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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ABSTRACT
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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.