22194 Background: Breast cancer is the second leading cause of cancer deaths in Mexican females. Various prognostic factors have been studied to determine proteins from genes implicated in cancer d...
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The development of new fields of study in genetics, as the -omic sciences (transcriptomics, proteomics, metabolomics), has allowed the study of the regulation and expression of genomes. Therefore, nowadays it is possible to study global... more
The development of new fields of study in genetics, as the -omic sciences (transcriptomics, proteomics, metabolomics), has allowed the study of the regulation and expression of genomes. Therefore, nowadays it is possible to study global alterations--in the whole genome--and their effect at the protein and metabolic levels. Importantly, this new way of studying genetics has opened new areas of knowledge, and new cellular mechanisms that regulate the functioning of biological systems have been elucidated. In the clinical field, in the last years new molecular tools have been implemented. These tools are favorable to a better classification, diagnosis and prognosis of several human diseases. Additionally, in some cases best treatments, which improve the quality of life of patients, have been established. Due to the previous assertion, it is important to review and divulge changes in the study of genetics as a result of the development of the -omic sciences, which is the aim of this rev...
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Research Interests: Anthropology, Philosophy, Art, Molecular Biology, Biology, and 7 moreMedicine, Mexico, DNA, Humans, Clinical Medicine, Human Genome, and MEXICO
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Forty unrelated Mexican patients with Duchenne/Becker muscular dystrophy were analyzed for intragenic DMD gene deletions, using the multiplex amplification of 15 deletion-prone exons described by Chamberlain et al. and Beggs et al. The... more
Forty unrelated Mexican patients with Duchenne/Becker muscular dystrophy were analyzed for intragenic DMD gene deletions, using the multiplex amplification of 15 deletion-prone exons described by Chamberlain et al. and Beggs et al. The percentage of deletions was 52.5%, and the majority of them (86.3%) were located at the hot spot deletion region which encompasses exons 44-55. This frequency is higher than that found in American and European populations. There were no correlations between deletion size, location and clinical severity.
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Trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the... more
Trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the affected girls were the result of a maternal adjacent-1 meiotic segregation with a karyotype 46,XX, der(21), rcp(10;21)(p11;p11)mat. The concordant features in the abnormal patients constitute the following syndrome: severe psychomotor retardation, congenital microsomatia, mild hydrocephalus with cranium-face disproportion, low set ears with hypoplastic helix, ocular colobomata, pulmonary stenosis,flexion deformity of wrists and elbows, bilateral fifth finger clinodactyly and simian creases, hypoplastic dermal ridges, bilateral talipes, persistent icterus and delayed bone age. The phenotypical and cytogenetic findings permit the individualization of the 10p trisomy.
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Virchow’s “cellular pathology” had placed the cell at the center of the theory of disease: cells, the bearers of life, are also the seat of diseases. If anyone wants to learn about disease, he must first of all study cells.
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Research Interests: Genetics, Biology, Medicine, Genetic counseling, Humans, and 12 moreFluorescence in situ hybridization, Genetic Testing, Mutation, Muscular Dystrophy, Female, Polymerase Chain Reaction, Duchenne Muscular Dystrophy, Clinical Sciences, Family Health, Dystrophin, Genetic, and reverse transcriptase polymerase chain reaction
Partial 2p trisomy was diagnosed (by the G‐banding method) in two sibs with multiple congenital defects. Their father showed a balanced translocation 46,XY,rcp(2;15)(p21;q26) (so the patients were the result of a paternal adjacent‐1... more
Partial 2p trisomy was diagnosed (by the G‐banding method) in two sibs with multiple congenital defects. Their father showed a balanced translocation 46,XY,rcp(2;15)(p21;q26) (so the patients were the result of a paternal adjacent‐1 meiotic segregation). The clinical features of the two affected cases are compared with other cases previously reported of partial 2p trisomy in order to individualize the syndrome.
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Genetic and cytogenetic studies were performed in 110 children with retinoblastoma (57 girls and 53 boys), with 70% of cases being unilateral and 30% bilateral. The mean age of the patients at diagnosis was 22.6 months in unilateral and... more
Genetic and cytogenetic studies were performed in 110 children with retinoblastoma (57 girls and 53 boys), with 70% of cases being unilateral and 30% bilateral. The mean age of the patients at diagnosis was 22.6 months in unilateral and 11.1 months in bilateral cases. Sporadic cases were 94.5%, and the remaining were familial. There was no difference when the paternal age of sporadic cases was compared with that of familial cases. Three patients from a family exhibiting unilateral retinoblastoma had an interstitial deletion at band 13q14. The presence of other neoplasms and the importance of the genetic and chromosomic studies, for the purpose of genetic counseling, are discussed.
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In a girl with the Chediak-Higashi syndrome, a remarkable polymorphism of chromosome number one was identified by G and C banding. The association of the polymorphisms of constitutive heterochromatin with abnormal phenotypes is discussed.... more
In a girl with the Chediak-Higashi syndrome, a remarkable polymorphism of chromosome number one was identified by G and C banding. The association of the polymorphisms of constitutive heterochromatin with abnormal phenotypes is discussed. It is suggested that further cytogenetic studies might be performed in humans and animals with this rare autosomal recessive disorder in order to confirm the present findings.
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Submicroscopic duplications in the Miller-Dieker critical region have been recently described as new genomic disorders. To date, only a few cases have been reported with overlapping 17p13.3 duplications in this region. Also, small... more
Submicroscopic duplications in the Miller-Dieker critical region have been recently described as new genomic disorders. To date, only a few cases have been reported with overlapping 17p13.3 duplications in this region. Also, small deletions that affect chromosome region 10p14→pter are rarely described in the literature. In this study, we describe, to our knowledge for the first time, a 5-year-old female patient with intellectual disability who has an unbalanced 10;17 translocation inherited from the father. The girl was diagnosed by subtelomeric FISH and array-CGH, showing a 4.43-Mb heterozygous deletion on chromosome 10p that involved 14 genes and a 3.22-Mb single-copy gain on chromosome 17p, which includes the critical region of the Miller-Dieker syndrome and 61 genes. The patient’s karyotype was established as 46,XX.arr 10p15.3p15.1(138,206–4,574,436)x1,17p13.3(87,009–3,312,600)x3. Because our patient exhibits a combination of 2 imbalances, she has phenotypic features of both chr...
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... Estudios de Antropología Biológica, XII: 79-91, México, 2005, ISSN 1405-5066 ESTUDIO DE LA ESTRUCTURA GENÉTICA DE UNA COMUNIDAD NAHUA DEL CENTRO DE VERACRUZ Leonor Buentello Malo, Rosenda Peñaloza,* Fabio Salamanca* y Waleska... more
... Estudios de Antropología Biológica, XII: 79-91, México, 2005, ISSN 1405-5066 ESTUDIO DE LA ESTRUCTURA GENÉTICA DE UNA COMUNIDAD NAHUA DEL CENTRO DE VERACRUZ Leonor Buentello Malo, Rosenda Peñaloza,* Fabio Salamanca* y Waleska Sanabria** ...
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The present paper investigates the use of G-bands chromosome heteromorphisms for illegitimacy testing. We studied both parents and 171 of their children in 80 families utilizing the material, in addition, to establish the procedures... more
The present paper investigates the use of G-bands chromosome heteromorphisms for illegitimacy testing. We studied both parents and 171 of their children in 80 families utilizing the material, in addition, to establish the procedures sensitivity. The results showed that one (0.6%) of the 171 children studied was illegitimate, which was much lower than the figure of 6.7% obtained in a similar population studied with three blood group systems and three serum genetic markers. We could show that the low efficiency of the G-band heteromorphisms is at least partially due to its low sensitivity, 27% as compared to 60% obtained with the other genetic markers.
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ABSTRACT: Penile erection depends on the balanced action between antagonist vasoactive molecules such as nitric oxide (NO) and angiotensin. Endothelial nitric oxide synthase (eNOS) and angiotensin‐converting enzyme (ACE) polymorphisms... more
ABSTRACT: Penile erection depends on the balanced action between antagonist vasoactive molecules such as nitric oxide (NO) and angiotensin. Endothelial nitric oxide synthase (eNOS) and angiotensin‐converting enzyme (ACE) polymorphisms have been associated with endothelial dysfunction, which is described as a cause of erectile dysfunction (ED). Endothelial NOS and ACE are both regulators of vascular and corporal smooth muscle tone, which are connected by interaction between the NO‐cyclic guanosine monophosphate pathway and the renin‐angiotensin system. We analyzed the frequencies of 894 G/T (Glu298Asp) eNOS and ACE I/D polymorphisms in Mexican patients with ED (n = 53) and in an age‐matched control group (n = 62). The populations analyzed were in Hardy Weinberg equilibrium. We found significant differences in allelic (χ2 = 4.42; P = .03) and genotypic frequencies (χ2 = 3.96; P = .04) between patients and controls for the 894 G/T eNOS polymorphism. Presence of the 894T allele in carri...
Research Interests: Endocrinology, Andrology, Biology, Erectile dysfunction, Humans, and 15 moreDiabetes mellitus, Endothelial dysfunction, Enzyme, Clinical Sciences, Genotype, Adult, Angiotensin Converting Enzyme, Genetic Susceptibility, Cardiac Disease, Confidence Interval, Control Group, ENOS, Endothelial nitric oxide synthase, Cigarette Smoke, and Genetic predisposition to disease
The development of new fi elds of study in genetics, as the omic sciences (transcriptomics, proteomics, metabolomics), has allowed the study of the regulation and expression of genomes. Therefore, nowadays it is possible to study global... more
The development of new fi elds of study in genetics, as the omic sciences (transcriptomics, proteomics, metabolomics), has allowed the study of the regulation and expression of genomes. Therefore, nowadays it is possible to study global alterations —in the whole genome— and their effect at the protein and metabolic levels. Importantly, this new way of studying genetics has opened new areas of knowledge, and new cellular mechanisms that regulate the functioning of biological systems have been elucidated. In the clinical field, in the last years new molecular tools have been implemented. These tools are favorable to a better classifi cation, diagnosis and prognosis of several human diseases. Additionally, in some cases best treatments, which improve the quality of life of patients, have been established. Due to the previous assertion, it is important to review and divulge changes in the study of genetics as a result of the development of the omic sciences, which is the aim of this rev...
Hemolytic disease of the newborn develops mainly when an Rh negative (D-) mother becomes sensitized and produces anti-Rh positive (anti-D) antibodies capable of hemolysing D+ fetal erythrocytes. Maternal alloimmunization can be prevented... more
Hemolytic disease of the newborn develops mainly when an Rh negative (D-) mother becomes sensitized and produces anti-Rh positive (anti-D) antibodies capable of hemolysing D+ fetal erythrocytes. Maternal alloimmunization can be prevented by the administration of anti-D gamma-globulin immediately after the birth of each Rh positive child. In order to identify the frequency of prevention of alloimmunization at the Instituto Mexicano del Seguro Social (IMSS), the amount of mothers at risk of sensitization from 1985 to 1995 was estimated from Rh and ABO blood group frequencies and with the number of deliveries and abortions at the Medical Institutions. Also, information in regard to the dose of gamma-globulin units purchased by the Institute of Social Security from 1985 to 1993 was obtained. The number of mothers at risk steadily increased from 16,616 in 1985 to 21,071 in 1995, amounting to a total of 203,203 in the 10-year period, while only 120,800 gamma-globulin units were purchased ...
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Endothelium-derived nitric oxide (NO) is an important factor in vasodilation synthesized by endothelial nitric oxide synthase (eNOS). A polymorphism (894 G to T) in exon 7 of the eNOS gene causes the conversion of Glu to Asp in position... more
Endothelium-derived nitric oxide (NO) is an important factor in vasodilation synthesized by endothelial nitric oxide synthase (eNOS). A polymorphism (894 G to T) in exon 7 of the eNOS gene causes the conversion of Glu to Asp in position 298. The Glu298Asp polymorphism has been extensively associated with cardiovascular disease. We determined the Glu298Asp polymorphism frequency in healthy Mexican Mestizo,
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Repeated sequences are dispersed along the human genome. These sequences are useful as markers in diagnosis of inherited diseases, in forensic medicine, and in tracking the origin and evolution of human populations. The (AC)n repeated... more
Repeated sequences are dispersed along the human genome. These sequences are useful as markers in diagnosis of inherited diseases, in forensic medicine, and in tracking the origin and evolution of human populations. The (AC)n repeated element is the most frequent in the human genome. In this paper, the (AC)n repeated element located in the 5′ flanking region of the β-globin
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The frequency of chromosomal alterations was compared among four children groups: those with Down syndrome and acute leukemia (DS/AL), those with acute leukemia (AL), those with only Down syndrome (DS) and healthy children (NC). The... more
The frequency of chromosomal alterations was compared among four children groups: those with Down syndrome and acute leukemia (DS/AL), those with acute leukemia (AL), those with only Down syndrome (DS) and healthy children (NC). The frequency of acquired chromosome abnormalities was larger in the AL group, followed by the DS/AL. The gaps and isogaps were more frequent in children with only DS. The polymorphisms of the constitutive heterochromatin were larger in the DS/AL group. These findings appear to imply that more genetic changes are necessary to develop AL in the case of healthy children compared to children with DS.
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The frequency of structural chromosomal aberrations in two samples (AM and PM of the same day) from each of nine normal subjects, cultured in two different laboratories, was studied by six observers. The results were analyzed in order to... more
The frequency of structural chromosomal aberrations in two samples (AM and PM of the same day) from each of nine normal subjects, cultured in two different laboratories, was studied by six observers. The results were analyzed in order to determine the relative importance of inter- and intralaboratory factors in the variability of chromosomal abnormalities. In addition to the difference in the frequency of the abnormalities between the subjects studied, there were differences due to observers from different laboratories (P less than 0.01), as well as between laboratories (P less than 0.01). These results could be explained in part by insufficient agreement between observers from different laboratories and by differences in the quality of the method used.
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Polymorphonuclear leucocytes from patients with full Turner's syndrome (45,X) revealed a significantly weaker chemotactic response towards zymosan‐activated serum than normal female and male controls. Random mobility and chemokinetic... more
Polymorphonuclear leucocytes from patients with full Turner's syndrome (45,X) revealed a significantly weaker chemotactic response towards zymosan‐activated serum than normal female and male controls. Random mobility and chemokinetic responses of polymorphonuclear leucocytes were normal, and so were all locomotive responses of mononuclear phagocytes in patients with Turner's syndrome. A subclinical polymorphonuclear leucocyte chemotactic defect is suggested by these results, and a possible regulatory effect by a gene(s) in chromosome X (and Y) that must be present in a full double dose to preserve this function can be proposed. Control of polymorphonuclear leucocyte chemotaxis may represent yet another exception to the general rule of X‐inactivation.
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According to cytogenetic analysis, about 50% of Turner individuals are 45,X. The remaining cases have a structurally abnormal X chromosome or are mosaics with a second cell line containing a normal or abnormal sex chromosome. In these... more
According to cytogenetic analysis, about 50% of Turner individuals are 45,X. The remaining cases have a structurally abnormal X chromosome or are mosaics with a second cell line containing a normal or abnormal sex chromosome. In these mosaics, approximately 20% have a sex marker chromosome whose identity cannot usually be determined by classical cytogenetic methods, requiring the use of molecular techniques. Polymerase chain reaction (PCR), primed in situ labeling (PRINS), and fluorescence in situ hybridization (FISH) analyses were performed in 8 patients with Turner syndrome and 45,X mosaic karyotypes to determine the origin and structure of the marker chromosome in the second cell line. Our data showed that markers were Y-derived in 2 patients and X-derived in the remaining 6 patients. We were also able to determine the breakpoints in the two Y chromosomes. The use of cytogenetic and molecular techniques allowed us to establish unequivocally the origin, X or Y, of the marker chromosomes in the 8 patients with Turner phenotype. This study illustrates the power of resolution and utility of combined cytogenetic and molecular approaches in some clinical cases.
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Breast cancer is the second-leading cause of death among Mexican women... more
Breast cancer is the second-leading cause of death among Mexican women >35 years of age. At the molecular level, changes in many genetic pathways have been reported to be associated with this neoplasm. To analyze these changes, we determined gene expression profiles and chromosomal structural alterations in tumors from Mexican women. We obtained mRNA to identify expression profiles with microarray technology, and DNA to determine amplifications and deletions, in 10 fresh sporadic breast tumor biopsies without treatment, as well as in 10 nonaffected breast tissues. Expression profiles were compared with genetic changes observed by comparative genomic hybridization (CGH). We compared the expression profiles against the structural alterations from the studied genes by means of microarrays; at least 17 of these genes correlated with DNA copy number alterations. We found that the following genes were overexpressed: LAMC1, PCTK3, CCNC, CCND1, FGF3, PCTK2, L1CAM, BGN, and PLXNB3 (alias PLEXR). Underexpressed genes included CASP9, FGR, TP73, HSPG2, and ERCC1; genes turned off included FRAP1, EPHA2 (previously ECK), IL12A, E2F5, TNFRSF10B, TNFRSF10A, EFNB3, and BCL2. The results will allow us, in the near future, to outline genes that could serve as diagnostic, prognostic, or target therapy markers for the Mexican population.
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Retinoblastoma (RB) is a childhood tumor of the eye with an average incidence of one case in every 15,000-20,000 live births and occurs in sporadic or hereditary form. This cancer results from loss or inactivation of the RB1 gene located... more
Retinoblastoma (RB) is a childhood tumor of the eye with an average incidence of one case in every 15,000-20,000 live births and occurs in sporadic or hereditary form. This cancer results from loss or inactivation of the RB1 gene located at 13q14.1. This gene encodes for a 110 Kd nuclear phosphoprotein (pRB) that plays a major role in cell proliferation control. Different types of mutations in the RB1 gene have been reported, but point mutations are the most common. There are no molecular studies on RB1 gene mutation in Mexican patients. In this study, 19 patients with bilateral or unilateral RB were analyzed. Genetic and cytogenetic studies were carried out. Detection of RB1 gene mutations was done using single-strand conformational polymorphism (SSCP). Five conformational polymorphisms were identified in different exons. In all cases, SSCP sequence showed new non-described mutations that produced a frameshift on the open reading frame. The identification of mutations in the RB1 gene contributes to basic knowledge of this neoplasia and permits the possibility to offer adequate genetic counseling to relatives at risk.
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P53 mediates several biological processes for preservation of genetic stability such as the induction of cell cycle arrest, DNA repair or apoptosis in response to DNA damage. The antiparasitic drug,... more
P53 mediates several biological processes for preservation of genetic stability such as the induction of cell cycle arrest, DNA repair or apoptosis in response to DNA damage. The antiparasitic drug, 1-(2-hydroxyethyl)-2-methyl-5-nitroimidazole (metronidazole, MTZ) is able to increase lymphocyte proliferation inducing at the same time chromosomal aberrations. Trying to understand this unexpected event we used cell lines with different P53 functionality, determining the proliferation capacity and the induction of micronuclei (MN) after the treatment with MTZ or its hydroxy metabolite. Our results show that MTZ increased proliferation in a dose response manner in all P53 functional cell lines without inducing changes on the levels of P53 nor MN. However, MTZ hydroxy metabolite induced a dose response increase of P53 and MN, while cell proliferation was not increased. Several studies have shown that the hydroxy metabolite is more potent than MTZ itself. Only in cell lines that do not have a functional P53, MTZ and its metabolite increased both cell proliferation and MN. MTZ use is increasing and its carcinogenicity has not been discarded. Our data indicate that MTZ hydroxy metabolite is potentially a carcinogen and needs to be further studied.
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The present study was carried out in order to assess the genetic component in a group of sterile or infertile couples from a latin american population. During a six-year-period, 258 patients were investigated. Sixty two per cent of the... more
The present study was carried out in order to assess the genetic component in a group of sterile or infertile couples from a latin american population. During a six-year-period, 258 patients were investigated. Sixty two per cent of the cases were studied for sterility and 38% for infertility. It was found that 34% had genetic pathology. In infertile couples the frequency of chromosome abnormalities was 2.8%; when sterility was also considered this frequency was 11.6%. Chromosome variants were found in 11.4% of the sterile patients and in 8.8% of the infertile cases.
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To investigate the origin of von Willebrand disease in Mexican Mestizo population, we analyzed exons 18, 19, 20, 28, 45, and 52 of the VWF gene from 34 Mexican Mestizo index cases, 28 of them affected but not related, using DNA... more
To investigate the origin of von Willebrand disease in Mexican Mestizo population, we analyzed exons 18, 19, 20, 28, 45, and 52 of the VWF gene from 34 Mexican Mestizo index cases, 28 of them affected but not related, using DNA amplification by polymerase chain reaction and direct sequencing. We found three novel mutations: E1447Q in one patient with type 1; P2781S in one patient with type 2M; and P812L in another type 1/2N patient. These mutations were not found in 100 normal alleles. Moreover, we found other mutations previously reported in the literature; one of them (G1609R) was the most frequent (6/28) in patients with VWD type 2A. This is the first molecular study in a Mexican group that has a particular mixture of Indigenous, Caucasian, and African genes.
Research Interests: Genetics, Mathematics, Biology, Adolescent, Medicine, and 15 moreMexico, Humans, Child, Female, Male, Gene, Clinical Sciences, Genotype, MEXICO, Indexation, Allele, Exon, Child preschool, alleles, and Direct sequence
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The mouse alpha-sarcoglycan gene is expressed in muscle cells during differentiation, but its transcriptional regulation is not understood. We have characterized the promoter region of the mouse alpha-sarcoglycan gene. This region is... more
The mouse alpha-sarcoglycan gene is expressed in muscle cells during differentiation, but its transcriptional regulation is not understood. We have characterized the promoter region of the mouse alpha-sarcoglycan gene. This region is composed of positive and negative regulatory elements that respond to the myogenic differentiation environment. Accordingly, MyoD transactivates the alpha-sarcoglycan full-length and the proximal promoter. Chromatin immunoprecipitation assays revealed that MyoD, TFIID, and TFIIB interact with the distal promoter in C2C12 myoblasts, a stage at which the alpha-SG promoter appears to drive basal activity. In myotubes, such factors are located concomitantly at the distal promoter and at a DNA region around the proximal promoter. In agreement with these results, TFIID and TFIIB co-immunoprecipitate with MyoD. We conclude that the alpha-SG promoter is activated by MyoD, which interacts with TFIID and TFIIB in a protein complex differentially located at the distal promoter and around the proximal promoter during myogenic cell differentiation.
Research Interests: Genetics, Molecular Biology, Biology, Myogenesis, Biological Sciences, and 15 moreCell Differentiation, Mice, Animals, Physical sciences, Promoter, Muscle development, Chromatin Immunoprecipitation, Base Sequence, MyoD, Full Length Movies, Gene Expression Regulation, Myoblasts, Molecular Sequence Data, Muscle fibers skeletal, and MyoD Protein
The Publisher regrets that this article is an accidental duplication of an article that has already been published in Biochem. Biophys. Acta, doi:10.1016/j.bbagrm.2007.09.002. The duplicate article has therefore been withdrawn.
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Research Interests: Molecular Biology, Biology, Transcription Regulation, Myogenesis, Transcription Factors, and 15 moreCell line, Cell Differentiation, Mice, Animals, Promoter, Transcriptional regulation, Biochemical, Transcription Factor, Chromatin, Skeletal Muscle, Chromatin Immunoprecipitation, Biochemistry and cell biology, Gene Expression Regulation, Muscle cells, and Medical biochemistry and metabolomics
Research Interests: Cancer, Biology, Immunohistochemistry, Medicine, In Situ Hybridization, and 15 moreHumans, Female, Expression, HPV, Gene, Cervical Cancer, Carcinogenesis, RT PCR, Gene expression profiling, Medical Archives, Random Allocation, Papillomaviridae, Papillomavirus Infections, Uterine Cervical Neoplasms, and Medical and Health Sciences
In order to improve carrier detection of Duchenne and Becker muscular dystrophy, dinucleotide sequences repeats (CA) of introns 44, 45, 49 and 50 were used as well as two markers located at the 5' and 3' ends of the dystrophin... more
In order to improve carrier detection of Duchenne and Becker muscular dystrophy, dinucleotide sequences repeats (CA) of introns 44, 45, 49 and 50 were used as well as two markers located at the 5' and 3' ends of the dystrophin gene. Haplotypes of the unaffected and affected ...
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We have analyzed 59 unrelated Mexican Duchenne/Becker muscular dystrophy patients (DMD/BMD) using PCR analysis of the 2 prone deletion regions in the DMD gene. Thirty one (52%) of the patients had a deletion of one or several of the... more
We have analyzed 59 unrelated Mexican Duchenne/Becker muscular dystrophy patients (DMD/BMD) using PCR analysis of the 2 prone deletion regions in the DMD gene. Thirty one (52%) of the patients had a deletion of one or several of the exons. Most of the alterations (87%) were clustered in exons 44-52, this being the highest percentage reported until now. In order to improve the molecular diagnosis in the Mexican population, we designed a new multiplex assay to PCR amplify exons 44-52. This assay allowed for the identification of a greater number of deletions in this region compared with the 9 and 5-plex assays previously described and to determine most of the deletion end boundaries. This is a reliable alternative for the initial screening of the DMD patients in the Mexican population.
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Animal breeders, who bred and selected for loyalty in dogs, or speed in horses, or docility in cattle, were probably the first to notice the powerful influence of heredity, even if they didn’t know the word or understand the principles.... more
Animal breeders, who bred and selected for loyalty in dogs, or speed in horses, or docility in cattle, were probably the first to notice the powerful influence of heredity, even if they didn’t know the word or understand the principles. Certainly all successful breeders realized that much could be known about the traits of a newborn animal by having a thorough familiarity with the bloodlines of that animal. The bloodlines of racing horses in England have been recorded in the Stud Book for more than 200 years. The impetus for keeping this record for so many years is the sure knowledge that a cross between two slow horses will virtually never produce a fast horse. This simple perception is an affirmation that, to at least some extent, DNA is destiny. The first Stud Book, published in 1793, listed almost 200 horses available for sire, but only 3 of those horses have had offspring through all of the intervening years. Thus, every thoroughbred racing horse in the world today can trace its ancestry back to one of these 3 horses. Yet, even though the bloodline of each racing horse in the world is known, in some cases back for more than 20 generations, breeding a faster racehorse remains somewhat a matter of chance.
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Como resultado del metabolismo celular se forman radicales superoxido (O-2), las cuales afectan la multiplicacion y la sobrevida de las celulas y estan relacionadas con fenomenos tan importantes como el envejecimiento y la transformacion... more
Como resultado del metabolismo celular se forman radicales superoxido (O-2), las cuales afectan la multiplicacion y la sobrevida de las celulas y estan relacionadas con fenomenos tan importantes como el envejecimiento y la transformacion neoplasica. Las celulas tumorales se caracterizan por un notable incremento en su metabolismo y, por lo mismo, por una produccion excesiva de radicales superoxido. Para eliminar estas radicales las celulas cuentan al menos con dos enzimas fundamentales: la seperoxidodismutasa 1 y la superoxidodismutasa 2. La primera es soluble, es cobre-zinc dependiente y su locus esta localizado en el brazo largo del cromosoma 21 (21q22.1). La dismutasa 2 es mitocondrial, es dependiente de manganeso y su locus se encuentra en el brazo largo del cromosoma 6 (6q21). Para eliminar estos radicales las celulas cuentan al menos con dos enzimas fundamentales: la seperoxidodismutasa 1 y la superoxidodismutasa 2. La primera es soluble, es cobre-zinc dependiente y su locus esta localizado en el brazo largo del cromosoma 21 (21q22.1). La dismutasa 2 es mitocondrial, es dependiente de manganeso y su locus se encuentra en el brazo largo del cromosoma 6 (6q21).
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El autismo se presenta habitualmente durante los tres primeros anos de edad, se caracteriza por compromiso de la interaccion social con falla de contacto visual, expresion facial y gesticular, fallas en la comunicacion oral, con... more
El autismo se presenta habitualmente durante los tres primeros anos de edad, se caracteriza por compromiso de la interaccion social con falla de contacto visual, expresion facial y gesticular, fallas en la comunicacion oral, con dificultades para iniciar o mantener una conversacion, intereses restringidos a un topico o actividad y comportamientos repetitivos con rutinas o rituales sin proposito. El desorden tiene graves consecuencias para los pacientes y sus familiares. Se estima que se presenta con una frecuencia de 1 a 2 en 1,000 recien nacidos y es mas frecuente en varones que en mujeres, con una proporcion de 3 a 1. Cerca de la cuarta o quinta parte de los casos puede asociarse con alguna patologia medica, siendo las asociaciones mas comunes con el sindrome del cromosoma X fragil y con la esclerosis tuberosa. El componente genetico de la entidad se ha demostrado por estudios familiares en los cuales se ha encontrado una prevalencia de 4 a 10 por ciento entre los pacientes, y por estudios en gemelos, en los cuales la concordancia entre gemelos monocigotos es cercana al 60 por ciento.
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Research Interests: Blindness, Medicine, Macular Degeneration, Humans, Mutation, and 7 morePubmed, Risk factors, Aged, Middle Aged, Age Factors, Risk Factors, and alleles
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Research Interests: Anthropometry, Medicine, Humans, Female, Pubmed, and 3 moreMale, Noonan syndrome, and Turner Syndrome
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Deliberate inhalation of volatile substances is a common and harmful practice among young persons around the world. Psychological studies were performed in 40 children habituated to inhalation of volatile agents, with the aim to define... more
Deliberate inhalation of volatile substances is a common and harmful practice among young persons around the world. Psychological studies were performed in 40 children habituated to inhalation of volatile agents, with the aim to define the psychological profile of inhalers, particularly their reactions against frustration. A significant difference in the extrapunitive attitude (p less than 0.001) and in the reaction of ego-defense (p less than 0.02) was found in sniffers as compared with controls. Addicted children also showed inadequate handling of frustration, aggressive and defensive behaviours, and passive and irresponsible attitude when confronted with problems.
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La trisomia G1 conocida mas comunmente como Sindrome de Down y Mongolismo fue la primera aberracion cromosomica numerica descrita en el humano, en 1959 por Lejeune y Col. Quizas quien primero llamo la atencion sobre esta entidad fue... more
La trisomia G1 conocida mas comunmente como Sindrome de Down y Mongolismo fue la primera aberracion cromosomica numerica descrita en el humano, en 1959 por Lejeune y Col. Quizas quien primero llamo la atencion sobre esta entidad fue Esquirol en 1838, refiriendose a los pacientes afectados como "esos sujetos cuya talla es pequena, la cabeza poco voluminosa, la comisura palpebral externa mas elevada que la interna, la nariz deprimida en su base". Posteriormente, en 1846, F. Segun agrego a la anterior descripcion "La nariz truncada, la lengua grande y fisurada y la sensibilidad de los pulmones y tegumentos a las infecciones". En 1866 el mismo Segun hablo de la "diatesis furfuracea de esos buenos ninos que pueden aprender a hablar y adquirir algunos conocimientos"
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La obesidad constituye un grave problema de salud pública por su frecuencia y por los riesgos que conlleva para otras patologias. En el país, la frecuencia de la obesidad varia de cerca de 15 por ciento en las zonas rurales, hasta 30 por... more
La obesidad constituye un grave problema de salud pública por su frecuencia y por los riesgos que conlleva para otras patologias. En el país, la frecuencia de la obesidad varia de cerca de 15 por ciento en las zonas rurales, hasta 30 por ciento en las áreas urbanas. Por otra parte, la obesidad se asocia con un riesgo incrementado para diabetes mellitus, hipertensión arterial, enfermedades cardiovasculares, litiasis vesicular, enfermedad pulmonar obstructiva crónica, osteoartrosis, distintas neoplasias, especialmente cáncer de mama y trastornos psicológicos. La obesidad tiene un componente poligénico y multifactorial, en el cual el fenotipo anormal resulta de la acción aditiva de numerosos genes que interactóan con factores ambientales especialmente de indole nutricional. La genetica ha permitido recientemente el reconocimiento de genes que juegan un importante papel en la obesidad. Se ha aislado y clonado el gen de la obesidad, ob, que explica el sobrepeso en los ratones obesos y cu...
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Research Interests: Medicine, Transgenic Mice, Mexico, Finland, Humans, and 6 moreMice, Haplotypes, Animals, Adult, MEXICO, and Type 2 Diabetes Mellitus
La obesidad constituye un grave problema de salud pública por su frecuencia y por los riesgos que conlleva para otras patologias. En el país, la frecuencia de la obesidad varia de cerca de 15 por ciento en las zonas rurales, hasta 30 por... more
La obesidad constituye un grave problema de salud pública por su frecuencia y por los riesgos que conlleva para otras patologias. En el país, la frecuencia de la obesidad varia de cerca de 15 por ciento en las zonas rurales, hasta 30 por ciento en las áreas urbanas. Por otra parte, la obesidad se asocia con un riesgo incrementado para diabetes mellitus, hipertensión arterial, enfermedades cardiovasculares, litiasis vesicular, enfermedad pulmonar obstructiva crónica, osteoartrosis, distintas neoplasias, especialmente cáncer de mama y trastornos psicológicos. La obesidad tiene un componente poligénico y multifactorial, en el cual el fenotipo anormal resulta de la acción aditiva de numerosos genes que interactóan con factores ambientales especialmente de indole nutricional. La genetica ha permitido recientemente el reconocimiento de genes que juegan un importante papel en la obesidad. Se ha aislado y clonado el gen de la obesidad, ob, que explica el sobrepeso en los ratones obesos y cu...
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Research Interests: Medicine, Transgenic Mice, Mexico, Finland, Humans, and 6 moreMice, Haplotypes, Animals, Adult, MEXICO, and Type 2 Diabetes Mellitus
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The use of illegal substances in sports to enhance athletic performance during competition has caused international sports organizations such as the COI and WADA to take anti doping measures. A new doping method know as gene doping is... more
The use of illegal substances in sports to enhance athletic performance during competition has caused international sports organizations such as the COI and WADA to take anti doping measures. A new doping method know as gene doping is defined as "the non-therapeutic use of genes, genetic elements and/or cells that have the capacity to enhance athletic performance". However, gene doping in sports is not easily identified and can cause serious consequences. Molecular biology techniques are needed in order to distinguish the difference between a "normal" and an "altered" genome. Further, we need to develop new analytic methods and biological molecular techniques in anti-doping laboratories, and design programs that avoid the non therapeutic use of genes.
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Mitotic configurations consistent in split centromeres and splayed chromatids in all or most of the chromosomes or premature centromere division (PCD) have been described in three categories. (1) Low frequency of PCD observed in... more
Mitotic configurations consistent in split centromeres and splayed chromatids in all or most of the chromosomes or premature centromere division (PCD) have been described in three categories. (1) Low frequency of PCD observed in colchicines-treated lymphocyte cultures from normal individuals. (2) High frequency of PCD with mosaic variegated aneuploidy. (3) High frequency of PCD as a sole chromosome abnormality observed in individuals with no recognizable clinical pattern. We report four members of a family with the third category of PCD. Cell cycle duration assessed by average generation time using differential sister chromatid stain analysis and FISH studies of DNA centromere sequences in PCD individuals, are included and compared with previously reported PCD individuals from 9 families. We observed PCD in colchicine-treated cultures from the propositus, his father, and two paternal aunts but not in his mother and four other paternal and maternal family members, as well as in untre...
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Red cell acid phosphatase types and GC polymorphisms were studied in Mérida and Oaxaca, Mexico. GC polymorphisms were also investigated in León and Saltillo. The ACP*A, ACP*B, and ACP*C gene frequencies were 0.215, 0.770, and 0.015... more
Red cell acid phosphatase types and GC polymorphisms were studied in Mérida and Oaxaca, Mexico. GC polymorphisms were also investigated in León and Saltillo. The ACP*A, ACP*B, and ACP*C gene frequencies were 0.215, 0.770, and 0.015 respectively, in Mérida and 0.205, 0.788, and 0.002, respectively, in Oaxaca. In Oaxaca the ACP*R gene had a frequency of 0.005. The results are similar to other Mestizo groups studied in Mexico; it is concluded that the ACP*C and ACP*R genes were introduced by admixture of native Amerindians with whites and blacks, respectively. The GC*1S, GC*1F, and GC*2 gene frequencies were 0.489, 0.289 and 0.222, respectively, in León; 0.500, 0.272, and 0.228, respectively, in Mérida; 0.454, 0.337, and 0.209, respectively, in Oaxaca; and 0.505, 0.356, and 0.139, respectively, in Saltillo. These results are similar to what has been obtained in other Mestizo populations and Indian groups in Mexico, probably because the main ethnic component in both is Amerindian.
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Medical research is a fundamental tool to achieve the advancement of science, through the improvement of strategies aimed to protect, promote and restore an individual's and society's health. Three characteristics are required to... more
Medical research is a fundamental tool to achieve the advancement of science, through the improvement of strategies aimed to protect, promote and restore an individual's and society's health. Three characteristics are required to obtain approval of the research proposal: scientific relevance, technical quality and the accomplishment of ethical issues. The present review aimed at the determination of the specific criteria to perform a critical review of research proposals. A research was carried out in the PubMed, Medline, Ovid and Google Scholar databases, using the terms: peer review, research proposals, review and protocols, and reviewers. A total of 3546 related articles were reviewed, without finding a guide to critically assess research proposals. The guides to assess research articles consider that the quality criteria of the study should have been present since the study's conception; many of the issues described to review articles are incorporated in the review o...
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Research Interests: Biochemistry, Bioinformatics, Evolutionary Biology, Environmental Science, Developmental Biology, and 15 moreClimate Change, Computational Biology, Biotechnology, Cancer, Biology, Cell Cycle, Ecology, Drug Discovery, Evolution, Astrophysics, Functional Genomics, Astronomy, DNA, Cell Signalling, and Earth Science
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Research Interests: Biochemistry, Bioinformatics, Evolutionary Biology, Environmental Science, Developmental Biology, and 15 moreClimate Change, Computational Biology, Biotechnology, Cancer, Biology, Cell Cycle, Ecology, Drug Discovery, Evolution, Astrophysics, Astronomy, DNA, Cell Signalling, Austria, and Earth Science
Research Interests: Philosophy and Humanities
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Research Interests: Demography, Probability, Mexico, Population, Humans, and 4 morePaternity, MEXICO, Illegitimacy, and blood group antigens
Breast cancer is one of the most frequent causes of death in Mexican women over 35 years of age. At molecular level, changes in many genetic networks have been reported as associated with this neoplasia. To analyze these changes, we... more
Breast cancer is one of the most frequent causes of death in Mexican women over 35 years of age. At molecular level, changes in many genetic networks have been reported as associated with this neoplasia. To analyze these changes, we determined gene expression profiles of tumors from Mexican women with breast cancer at different stages and compared these with those of normal breast tissue samples. 32P-radiolabeled cDNA was synthesized by reverse transcription of mRNA from fresh sporadic breast tumor biopsies, as well as normal breast tissue. cDNA probes were hybridized to microarrays and expression levels registered using a phosphorimager. Expression levels of some genes were validated by real time RT-PCR and immunohistochemical assays. We identified two subgroups of tumors according to their expression profiles, probably related with cancer progression. Ten genes, unexpressed in normal tissue, were turned on in some tumors. We found consistent high expression of Bik gene in 14/15 tu...
Research Interests: Breast Cancer, Membrane Proteins, Immunohistochemistry, Mexico, Cell line, and 15 moreHumans, Female, Nucleic acid hybridization, Cluster Analysis, Aged, Middle Aged, Adult, Disease Progression, MEXICO, Cytoplasm, Gene expression profiling, Breast Neoplasms, BMC, reverse transcriptase polymerase chain reaction, and Cause of death
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Research Interests: Endocrinology, Genetics, Cardiology, Hematology, Nephrology, and 15 moreNeurology, Oncology, Epidemiology, Immunology, Nutrition, Down Syndrome, Allergy, Humans, Child, Female, Male, Infant, Monocytes, Fetus, and Child preschool
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Research Interests: Genetics, Genetic Epidemiology, Human Genetics, Genomics, Biology, and 15 moreEpigenetics, Human, Cytogenetics, Brain, Humans, Clinical Genetics, Infant, Creatine Kinase, Clinical Sciences, Human Genome, Consanguinity, Autosomal Recessive, Magnetic resonance image, Laminin, and Congenital muscular dystrophy
Repeated sequences are dispersed along the human genome. These sequences are useful as markers in diagnosis of inherited diseases, in forensic medicine, and in tracking the origin and evolution of human populations. The (AC)n repeated... more
Repeated sequences are dispersed along the human genome. These sequences are useful as markers in diagnosis of inherited diseases, in forensic medicine, and in tracking the origin and evolution of human populations. The (AC)n repeated element is the most frequent in the human genome. In this paper, the (AC)n repeated element located in the 5' flanking region of the beta-globin gene was studied by single-strand conformation polymorphism (SSCP). Four ethnic Mexican groups (Mixteca, Nahua, Otomí, Purépecha) and a Mestizo population were analyzed. We observed three alleles, A [(AC)16, B [(AC)14], and C [(AC)18], with a frequency of between 68.2% and 86.9%, 13.1% and 18.2%, and 6.7% and 13.7%, respectively. Allele C was present only in Purépecha and Mestizo groups. The absence of this allele in the other ethnic groups studied suggests that there is low genetic admixture of Purépecha and that this is a relatively isolated population. However, it could be that the C allele occurs in low frequencies in the other groups as a result of small sample sizes. The (AC)n repeat polymorphism in the beta-globin gene has not been previously studied in Amerindian populations.
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In this descriptive study we investigated the genetic structure of 513 Mexican indigenous subjects grouped in 14 populations (Mixteca-Alta, Mixteca-Baja, Otomi, Purépecha, Tzeltal, Tarahumara, Huichol, Nahua-Atocpan, Nahua-Xochimilco,... more
In this descriptive study we investigated the genetic structure of 513 Mexican indigenous subjects grouped in 14 populations (Mixteca-Alta, Mixteca-Baja, Otomi, Purépecha, Tzeltal, Tarahumara, Huichol, Nahua-Atocpan, Nahua-Xochimilco, Nahua-Zitlala, Nahua-Chilacachapa, Nahua-Ixhuatlancillo, Nahua-Necoxtla, and Nahua-Coyolillo) based on mtDNA haplogroups. These communities are geographically and culturally isolated; parents and grandparents were born in the community. Our data show that 98.6% of the mtDNA was distributed in haplogroups A1, A2, B1, B2, C1, C2, D1, and D2. Haplotype X6 was present in the Tarahumara (1/53) and Huichol (3/15), and haplotype L was present in the Nahua-Coyolillo (3/38). The first two principal components accounted for 95.9% of the total variation in the sample. The mtDNA haplogroup frequencies in the Purépecha and Zitlala were intermediate to cluster 1 (Otomi, Nahua-Ixhuatlancillo, Nahua-Xochimilco, Mixteca-Baja, and Tzeltal) and cluster 2 (Nahua-Necoxtla, Nahua-Atocpan, and Nahua-Chilacachapa). The Huichol, Tarahumara, Mixteca-Alta, and Nahua-Coyolillo were separated from the rest of the populations. According to these findings, the distribution of mtDNA haplogroups found in Mexican indigenous groups is similar to other Amerindian haplogroups, except for the African haplogroup found in one population.
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This study explores the genetic admixture of eight Mexican indigenous populations (Otomi-Ixmiquilpan, Otomi-Actopan, Tzeltales, Nahua-Milpa-Alta, Nahua-Xochimilco, Nahua-Zitlala, Nahua-Ixhuatlancillo, and Nahua-Coyolillo) on the basis of... more
This study explores the genetic admixture of eight Mexican indigenous populations (Otomi-Ixmiquilpan, Otomi-Actopan, Tzeltales, Nahua-Milpa-Alta, Nahua-Xochimilco, Nahua-Zitlala, Nahua-Ixhuatlancillo, and Nahua-Coyolillo) on the basis of five PCR-based polymorphic DNA loci (LDLR, GYPA, HBGG, D7S8, GC), HLA_DQA1, and the blood groups ABO and Rh (CcDEe). Among the indigenous populations, the highest gene frequencies for O and D were 0.9703 and 1.000 for Zitlala (State of Guerrero) and 0.9955 and 0.9414 for Tzeltales (State of Chiapas), respectively. Maximum likelihood estimates of admixture components yield a trihybrid model with Amerindian (assuming that Nahua-Zitlala is the most representative indigenous population), Spanish, and African ancestry with the admixture proportions: 93.03, 6.03, and 0.94 for Tzeltales, and 28.99, 44.03, and 26.98 for Coyolillo. A contribution of the ancestral populations of Ixhuatlancillo, Actopan, Ixmiquilpan, Milpa-Alta, and Xochimilco were found with the following average of admixture proportions: 75.84, 22.50, and 1.66. The findings herein demonstrate that the genetic admixture of the Mexican indigenous populations who at present speak the same Amer-Indian language can be differentiated and that the majority of them have less ancestral indigenous contribution than those considered as Mestizo populations.
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For a child to develop acute leukaemia (AL), environmental exposure may not be sufficient: interaction with a susceptibility factor to the disease, such as Down syndrome (DS), may also be necessary. We assessed whether breastfeeding and... more
For a child to develop acute leukaemia (AL), environmental exposure may not be sufficient: interaction with a susceptibility factor to the disease, such as Down syndrome (DS), may also be necessary. We assessed whether breastfeeding and early infection were associated with the risk of developing AL in children with DS. Children with DS in Mexico City, and either with or without AL, were the cases (N=57) and controls (N=218), respectively. Population was divided in children with AL and with acute lymphoblastic leukaemia (ALL) and also in children < or = 6 and >6 years old. Breastfeeding and early infections showed moderate (but not significant) association for AL, whereas hospitalisation by infection during the first year of life increased the risk: odds ratios (confidence interval 95%) were 0.84 (0.43-1.61), 1.70 (0.82-3.52); and 3.57 (1.59-8.05), respectively. A similar result was obtained when only ALL was analysed. We found that breastfeeding was a protective factor for dev...
Research Interests: Immunology, Incidence Geometry, British, Adolescent, Down Syndrome, and 15 moreBreastfeeding, Acute Myeloid Leukemia, Humans, Child, Female, Acute Lymphoblastic Leukaemia, Etiology, Immune system, First Year, Breast feeding, Environmental Exposure, Confidence Interval, Case Control Studies, Acute Disease, and Child preschool
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This descriptive study investigates the genetic structure of seven Mexican indigenous populations (Mixteca Alta, Mixteca Baja, Otomies, Purepecha, Nahuas-Guerrero, Nahuas-Xochimilco, and Tzeltales) on the basis of five PCR-based... more
This descriptive study investigates the genetic structure of seven Mexican indigenous populations (Mixteca Alta, Mixteca Baja, Otomies, Purepecha, Nahuas-Guerrero, Nahuas-Xochimilco, and Tzeltales) on the basis of five PCR-based polymorphic DNA loci: LDLR, GYPA, HBGG, D7S8, and GC. Genetic distance and diversity analyses indicate that these Mexican indigenous are similar and that more than 96% of the total gene diversity (HT) can be attributed to individual variation within populations. Mixteca-Alta, Mixteca-Baja, and Nahuas-Xochimilco show indications of higher admixture with European-derived persons. The demonstration of a relative genetic homogeneity of Mexican Indians for the markers studied suggests that this population is suitable for studying disease-marker associations in the search for candidate genes of complex diseases. Am. J. Hum. Biol. 15:23–28, 2003. © 2002 Wiley-Liss, Inc.
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Research Interests: Down Syndrome, Mexico, Humans, Child, Female, and 5 moreMale, MEXICO, Hypersensitivity, Logistic Models, and Case Control Studies
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Introducción: La Distrofia muscular de Duchenne/Becker (DMD/BMD) es la miopatía hereditaria más frecuente en las poblaciones humanas. Se caracteriza por una debilidad muscular progresiva que ocasiona, para el tipo Duchenne, la muerte por... more
Introducción: La Distrofia muscular de Duchenne/Becker (DMD/BMD) es la miopatía hereditaria más frecuente en las poblaciones humanas. Se caracteriza por una debilidad muscular progresiva que ocasiona, para el tipo Duchenne, la muerte por falla cardiaca y/o respiratoria durante la segunda década de la vida. Para el tipo Becker las alteraciones musculares son menos severas y los pacientes generalmente sobreviven hasta la edad adulta. El gen DMD, responsable de la enfermedad, se localiza en el brazo corto del cromosoma X y se hereda en forma recesiva ligada al cromosoma X. La mutación más frecuentemente asociada a esta enfermedad es la eliminación genética de diversas partes del gen DMD.La identificación del estado portador sólo se pude realizar mediante estudios moleculares, debido a la ausencia de manifestaciones clínicas en las posibles portadoras.En el presente trabajo se estudió la distribución de eliminaciones genéticas en el gen DMD de pacientes mexicanos con DMD/BMD y se identi...
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Recently, participation of the sarcoglycan (SG)-sarcospan (SSPN) complex in the development of cardiomyopathy in patients with limb-girdle muscular dystrophy has been shown, and presence of the complex in smooth muscle may be important... more
Recently, participation of the sarcoglycan (SG)-sarcospan (SSPN) complex in the development of cardiomyopathy in patients with limb-girdle muscular dystrophy has been shown, and presence of the complex in smooth muscle may be important for the contraction/dilation process of vessels. However, there are few studies determining the SG-SSPN complex in vascular smooth muscle and endothelial cells of vessels. In this study, we analyzed by reverse transcriptase-polymerase chain reaction and immunofluorescence the expression of different components of the complex in vein/artery smooth muscle and endothelial cells of the human umbilical cord. By RNA analysis, we observed expression of α-, β-, γ-, δ-, Ε-SG, and SSPN in smooth muscle cells. In endothelial cells, RNA expression was restricted to β-, δ-, Ε-SG, and SSPN. At protein level, we observed in smooth muscle the presence of β-, δ-, Ε-SG, and SSPN. In endothelial cells, immunostaining only evidenced the presence of Ε-SG and SSPN. However...
Research Interests: Biology, Membrane Proteins, Limb Girdle Muscular Dystrophy, Medicine, Humans, and 12 moreSmooth muscle, Endothelial Cells, Vascular, Fluorescent Antibody Technique, Endothelial cell, Caveolin-1, Umbilical Cord, Expression analysis, Vascular Smooth Muscle, Smooth muscle cell, reverse transcriptase polymerase chain reaction, and Medical and Health Sciences
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In Mexico, breast cancer represents the first cause of cancer death in females. At the molecular level, non-coding RNAs and especially microRNAs have played an important role in the origin and development of this neoplasm In the... more
In Mexico, breast cancer represents the first cause of cancer death in females. At the molecular level, non-coding RNAs and especially microRNAs have played an important role in the origin and development of this neoplasm In the Anglo-Saxon population, diverse genetic variants in microRNA genes and in their targets are associated with the development of this disease. In the Mexican population it is not known if these or other variants exist. Identification of these or new variants in our population is fundamental in order to have a better understanding of cancer development and to help establish a better diagnostic strategy. DNA was isolated from mammary tumors, adjacent tissue and peripheral blood of Mexican females with or without cancer. From DNA, five microRNA genes and three of their targets were amplified and sequenced. Genetic variants associated with breast cancer in an Anglo- Saxon population have been previously identified in these sequences. In the samples studied we iden...
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Breast cancer, specifically mammary carcinoma, is the most common cause of death from cancer in women worldwide, with a lifetime risk of one in nine, and its prevalence is increasing. It represents around 30% of all cancer in females and... more
Breast cancer, specifically mammary carcinoma, is the most common cause of death from cancer in women worldwide, with a lifetime risk of one in nine, and its prevalence is increasing. It represents around 30% of all cancer in females and approximately 40,000 deaths in the United States per year. Important advances have been made in detection and treatment, but a significant number of breast cancers are still detected late. This summary of its epidemiology and history, the molecular aspects of detection and the main implicated genes emphasizes the etiology and heterogeneity of the disease. It is still not clear whether the remaining cases of breast cancer negative to BRCA are due to mutations in another high penetrance gene or to unknown factors yet to be discovered.
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The goals of this population genetics study were to describe mtDNA haplogroups and ABO and Rh blood group systems of 3 Native Mexican populations, to determine their genetic variability, and to compare their haplogroups with those of 13... more
The goals of this population genetics study were to describe mtDNA haplogroups and ABO and Rh blood group systems of 3 Native Mexican populations, to determine their genetic variability, and to compare their haplogroups with those of 13 Native Mexican populations previously reported. The three communities under analysis were a Tepehua-speaking community from Huehuetla (Hidalgo state), an Otomi-speaking community from San Antonio el Grande (Hidalgo state), and a Zapotec-speaking community from Juchitán (Oaxaca state). Every subject studied in each community had four grandparents who were born in the same community and spoke the same language. The four Amerindian mtDNA haplogroups (A, B, C and D) were studied by restriction analysis and gel electrophoresis. Regarding the blood groups, the O group was the most frequent in the three populations (97.2, 94.7, and 86.2%, respectively), as well as the Rh+ group (100, 100, 84%). The three populations analyzed were in Hardy-Weinberg equilibri...
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Trinucleotide repeat expansion is responsible for ten human diseases described so far. Four types of repeats are involved in these expansions, with type, number and position in the gene varying from one disease to another. In some fragile... more
Trinucleotide repeat expansion is responsible for ten human diseases described so far. Four types of repeats are involved in these expansions, with type, number and position in the gene varying from one disease to another. In some fragile sites, the trinucleotide repeat is found to be enlarged to 200 or more. Smaller expansions have been found within coding regions of some genes that are associated with neurodegenerative diseases, such as Huntington's disease. The continuous expansion of the trinucleotide repeats in subsequent generations explains the genetic anticipation, peculiar to these disorders. Recently, it was shown that two expanded minisatellite sequences are also involved in both progressive myoclonus epilepsy type 1 and distamycin A-sensitive fragile site, FRA16B. This form of peculiar heredity is very important because of its relationship with some of the common human degenerative diseases.
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Research Interests: Population Genetics, Sickle Cell Anemia, Biology, Medicine, Mexico, and 3 moreHumans, Haplotypes, and MEXICO
Molecular studies using polymerase chain reaction (PCR) and restriction enzymes, as well as intragenic STRs and newly designed primers, were performed in patients with Duchenne-Becker muscular dystrophy, sickle cell anemia,... more
Molecular studies using polymerase chain reaction (PCR) and restriction enzymes, as well as intragenic STRs and newly designed primers, were performed in patients with Duchenne-Becker muscular dystrophy, sickle cell anemia, retinoblastoma, and nephroblastoma. The usefulness of these methodologies in the precise identification of mutational changes, in carrier detection and in the understanding of neoplastic transformations, as well as its applications in genetic counseling and prenatal diagnosis, are discussed. In addition, genetic polymorphisms in the beta globin gene cluster and in mtDNA were investigated. All these studies, the first performed in our population, contribute to establish the genetic origin and to a better characterization of the Mexican population.
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Research Interests: Demography, Probability, Mexico, Population, Humans, and 4 morePaternity, MEXICO, Illegitimacy, and blood group antigens
Breast cancer is one of the most frequent causes of death in Mexican women over 35 years of age. At molecular level, changes in many genetic networks have been reported as associated with this neoplasia. To analyze these changes, we... more
Breast cancer is one of the most frequent causes of death in Mexican women over 35 years of age. At molecular level, changes in many genetic networks have been reported as associated with this neoplasia. To analyze these changes, we determined gene expression profiles of tumors from Mexican women with breast cancer at different stages and compared these with those of normal breast tissue samples. 32P-radiolabeled cDNA was synthesized by reverse transcription of mRNA from fresh sporadic breast tumor biopsies, as well as normal breast tissue. cDNA probes were hybridized to microarrays and expression levels registered using a phosphorimager. Expression levels of some genes were validated by real time RT-PCR and immunohistochemical assays. We identified two subgroups of tumors according to their expression profiles, probably related with cancer progression. Ten genes, unexpressed in normal tissue, were turned on in some tumors. We found consistent high expression of Bik gene in 14/15 tu...
Research Interests: Breast Cancer, Membrane Proteins, Immunohistochemistry, Mexico, Cell line, and 15 moreHumans, Female, Nucleic acid hybridization, Cluster Analysis, Aged, Middle Aged, Adult, Disease Progression, MEXICO, Cytoplasm, Gene expression profiling, Breast Neoplasms, BMC, reverse transcriptase polymerase chain reaction, and Cause of death
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Research Interests: Endocrinology, Genetics, Cardiology, Hematology, Nephrology, and 15 moreNeurology, Oncology, Epidemiology, Immunology, Nutrition, Down Syndrome, Allergy, Humans, Child, Female, Male, Infant, Monocytes, Fetus, and Child preschool
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Research Interests: Genetics, Genetic Epidemiology, Human Genetics, Genomics, Biology, and 15 moreEpigenetics, Human, Cytogenetics, Brain, Humans, Clinical Genetics, Infant, Creatine Kinase, Clinical Sciences, Human Genome, Consanguinity, Autosomal Recessive, Magnetic resonance image, Laminin, and Congenital muscular dystrophy
Repeated sequences are dispersed along the human genome. These sequences are useful as markers in diagnosis of inherited diseases, in forensic medicine, and in tracking the origin and evolution of human populations. The (AC)n repeated... more
Repeated sequences are dispersed along the human genome. These sequences are useful as markers in diagnosis of inherited diseases, in forensic medicine, and in tracking the origin and evolution of human populations. The (AC)n repeated element is the most frequent in the human genome. In this paper, the (AC)n repeated element located in the 5&amp;amp;#39; flanking region of the beta-globin gene was studied by single-strand conformation polymorphism (SSCP). Four ethnic Mexican groups (Mixteca, Nahua, Otomí, Purépecha) and a Mestizo population were analyzed. We observed three alleles, A [(AC)16, B [(AC)14], and C [(AC)18], with a frequency of between 68.2% and 86.9%, 13.1% and 18.2%, and 6.7% and 13.7%, respectively. Allele C was present only in Purépecha and Mestizo groups. The absence of this allele in the other ethnic groups studied suggests that there is low genetic admixture of Purépecha and that this is a relatively isolated population. However, it could be that the C allele occurs in low frequencies in the other groups as a result of small sample sizes. The (AC)n repeat polymorphism in the beta-globin gene has not been previously studied in Amerindian populations.
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In this descriptive study we investigated the genetic structure of 513 Mexican indigenous subjects grouped in 14 populations (Mixteca-Alta, Mixteca-Baja, Otomi, Purépecha, Tzeltal, Tarahumara, Huichol, Nahua-Atocpan, Nahua-Xochimilco,... more
In this descriptive study we investigated the genetic structure of 513 Mexican indigenous subjects grouped in 14 populations (Mixteca-Alta, Mixteca-Baja, Otomi, Purépecha, Tzeltal, Tarahumara, Huichol, Nahua-Atocpan, Nahua-Xochimilco, Nahua-Zitlala, Nahua-Chilacachapa, Nahua-Ixhuatlancillo, Nahua-Necoxtla, and Nahua-Coyolillo) based on mtDNA haplogroups. These communities are geographically and culturally isolated; parents and grandparents were born in the community. Our data show that 98.6% of the mtDNA was distributed in haplogroups A1, A2, B1, B2, C1, C2, D1, and D2. Haplotype X6 was present in the Tarahumara (1/53) and Huichol (3/15), and haplotype L was present in the Nahua-Coyolillo (3/38). The first two principal components accounted for 95.9% of the total variation in the sample. The mtDNA haplogroup frequencies in the Purépecha and Zitlala were intermediate to cluster 1 (Otomi, Nahua-Ixhuatlancillo, Nahua-Xochimilco, Mixteca-Baja, and Tzeltal) and cluster 2 (Nahua-Necoxtla, Nahua-Atocpan, and Nahua-Chilacachapa). The Huichol, Tarahumara, Mixteca-Alta, and Nahua-Coyolillo were separated from the rest of the populations. According to these findings, the distribution of mtDNA haplogroups found in Mexican indigenous groups is similar to other Amerindian haplogroups, except for the African haplogroup found in one population.
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This study explores the genetic admixture of eight Mexican indigenous populations (Otomi-Ixmiquilpan, Otomi-Actopan, Tzeltales, Nahua-Milpa-Alta, Nahua-Xochimilco, Nahua-Zitlala, Nahua-Ixhuatlancillo, and Nahua-Coyolillo) on the basis of... more
This study explores the genetic admixture of eight Mexican indigenous populations (Otomi-Ixmiquilpan, Otomi-Actopan, Tzeltales, Nahua-Milpa-Alta, Nahua-Xochimilco, Nahua-Zitlala, Nahua-Ixhuatlancillo, and Nahua-Coyolillo) on the basis of five PCR-based polymorphic DNA loci (LDLR, GYPA, HBGG, D7S8, GC), HLA_DQA1, and the blood groups ABO and Rh (CcDEe). Among the indigenous populations, the highest gene frequencies for O and D were 0.9703 and 1.000 for Zitlala (State of Guerrero) and 0.9955 and 0.9414 for Tzeltales (State of Chiapas), respectively. Maximum likelihood estimates of admixture components yield a trihybrid model with Amerindian (assuming that Nahua-Zitlala is the most representative indigenous population), Spanish, and African ancestry with the admixture proportions: 93.03, 6.03, and 0.94 for Tzeltales, and 28.99, 44.03, and 26.98 for Coyolillo. A contribution of the ancestral populations of Ixhuatlancillo, Actopan, Ixmiquilpan, Milpa-Alta, and Xochimilco were found with the following average of admixture proportions: 75.84, 22.50, and 1.66. The findings herein demonstrate that the genetic admixture of the Mexican indigenous populations who at present speak the same Amer-Indian language can be differentiated and that the majority of them have less ancestral indigenous contribution than those considered as Mestizo populations.
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The goals of this population genetics study were to describe mtDNA haplogroups and ABO and Rh blood group systems of 3 Native Mexican populations, to determine their genetic variability, and to compare their haplogroups with those of 13... more
The goals of this population genetics study were to describe mtDNA haplogroups and ABO and Rh blood group systems of 3 Native Mexican populations, to determine their genetic variability, and to compare their haplogroups with those of 13 Native Mexican populations previously reported. The three communities under analysis were a Tepehua-speaking community from Huehuetla (Hidalgo state), an Otomi-speaking community from San Antonio el Grande (Hidalgo state), and a Zapotec-speaking community from Juchitán (Oaxaca state). Every subject studied in each community had four grandparents who were born in the same community and spoke the same language. The four Amerindian mtDNA haplogroups (A, B, C and D) were studied by restriction analysis and gel electrophoresis. Regarding the blood groups, the O group was the most frequent in the three populations (97.2, 94.7, and 86.2%, respectively), as well as the Rh+ group (100, 100, 84%). The three populations analyzed were in Hardy-Weinberg equilibri...
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Trinucleotide repeat expansion is responsible for ten human diseases described so far. Four types of repeats are involved in these expansions, with type, number and position in the gene varying from one disease to another. In some fragile... more
Trinucleotide repeat expansion is responsible for ten human diseases described so far. Four types of repeats are involved in these expansions, with type, number and position in the gene varying from one disease to another. In some fragile sites, the trinucleotide repeat is found to be enlarged to 200 or more. Smaller expansions have been found within coding regions of some genes that are associated with neurodegenerative diseases, such as Huntington's disease. The continuous expansion of the trinucleotide repeats in subsequent generations explains the genetic anticipation, peculiar to these disorders. Recently, it was shown that two expanded minisatellite sequences are also involved in both progressive myoclonus epilepsy type 1 and distamycin A-sensitive fragile site, FRA16B. This form of peculiar heredity is very important because of its relationship with some of the common human degenerative diseases.
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Research Interests: Population Genetics, Sickle Cell Anemia, Biology, Medicine, Mexico, and 3 moreHumans, Haplotypes, and MEXICO
Molecular studies using polymerase chain reaction (PCR) and restriction enzymes, as well as intragenic STRs and newly designed primers, were performed in patients with Duchenne-Becker muscular dystrophy, sickle cell anemia,... more
Molecular studies using polymerase chain reaction (PCR) and restriction enzymes, as well as intragenic STRs and newly designed primers, were performed in patients with Duchenne-Becker muscular dystrophy, sickle cell anemia, retinoblastoma, and nephroblastoma. The usefulness of these methodologies in the precise identification of mutational changes, in carrier detection and in the understanding of neoplastic transformations, as well as its applications in genetic counseling and prenatal diagnosis, are discussed. In addition, genetic polymorphisms in the beta globin gene cluster and in mtDNA were investigated. All these studies, the first performed in our population, contribute to establish the genetic origin and to a better characterization of the Mexican population.