Genetic Polymorphisms

Parkinson's disease is just a progressive disorder of the neural system that affects individual's movement. It develops slowly, sometimes beginning with barely obvious vibration in just one hand. But while a tremor could be the most recognized indication of Parkinson's disease, the disorder also generally causes hardness or slowing of movement. Type 2 diabetes referred to as adult-onset, is just an intense condition that affects the way in which the human body metabolizes sugar (glucose), the body's important supply of fuel.In this study, we evaluate of DISC1 gene rs3738401 polymorphism in Iranian Parkinson patients affected by type 2 Diabetes. The present research was conducted including number of 68Iranian Parkinson patients affected by type 2 Diabetes by employing ARMS-PCR process. To conclude, the information and statistics received from this study was analyzed by SPSS software. To sum up, the end outcome of current study explains considerable relation between DISC1 gene rs3738401 polymorphism in Iranian Parkinson patients affected by type 2 Diabetes. It could be an important genetic predisposition feature. INTRODUCTION Parkinson's disease (PD) is just a intense and progressive movement disorder, and thus symptoms continue and worsen over time [1]. The source is unknown, and though there is presently no treatment, you can find treatment methods for instance medication and surgery to control its symptoms. Parkinson's includes the malfunction and death of crucial nerve cells in the brain, named neurons. Parkinson's mainly affects neurons in a place of the brain labeled the substantia nigra [1,2]. Dopamine, a chemical that sends signals to the division of the brain that manages movement and skill. As PD progresses, the total amount of dopamine created in the brain decreases, leaving an individual unable to manage action normally[3]. Diabetes type 2 is a metabolic disease that is typified by hyperglycemia (high blood sugar) in the context of insulin resistance and relative lack of insulin. This really is in contrast to diabetes mellitus type 1, in which there's a complete insufficient insulin as a result of breakdown of islet cells in the pancreas.(4) The progress of type 2 diabetes is the result of a mixture of lifestyle and genetic factors. While some of those factors are under personal control, for example diet and obesity, other factors aren't, such as for instance increasing age, female sexual category, and genetics [5]. Deficiencies in sleep have been associated with type 2 diabetes. This really is believed to act through its effect on metabolism. The nutritional position of a mother during fetal development could also have a role, with one planned mechanism being that of altered DNA methylation [6]. Disrupted in schizophrenia 1 is just a protein which is encoded by the DISC1 gene in humans. In coordination with a wide collection of interacting partners, DISC1 has been demonstrated to take part in

Study Design. A case-control study was performed on 105 patients with idiopathic scoliosis (IS) and 210 unrelated gender-matched controls from Bulgarian population.

Objective. Investigation of the association between common genetic polymorphisms of IL-6 and MMP3 genes and the etiology and progression of IS among Bulgarian patients.

Summary of Background Data. The IL-6 and MMP3 genes have been considered as candidate genes of IS in Caucasian population.

Methods. Molecular detection of the promoter polymorphisms of IL-6 and MMP3 was performed by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). The statistical analysis was performed by [chi]2 test with a value of p < 0.05 as statistically significant. The combinatorial effect of the candidate genes was also examined.

Results. This case-control study revealed statistically significant association between the IL-6 (rs1800795) functional polymorphism and susceptibility to IS ([chi]2 = 16.055; p < 0.0001). In addition, a significant association between IL-6 (rs1800795) and curve severity was detected ([chi]2 = 16.87; p < 0.0001). No genotype or allele of MMP3 (rs3025058) was found to be correlated to the onset or progression of IS (p > 0.05). One IL-6-MMP3 genotype combination was associated with the susceptibility to IS.

Conclusion. IL-6 gene could be considered as a susceptibility and modifying factor of IS. The identification of molecular markers with diagnostic and prognostic value could be useful for early detection of children at risk for the development of IS and for prognosis of the risk for a rapid deformity progression. That would facilitate the therapy decisions and early stage treatment of the patient with the least invasive procedures.

Background and Aim: Canine degenerative myelopathy (CDM) is an adult-onset fatal disorder associated with a point mutation of the superoxide dismutase 1 (SOD1) gene (SOD1:c.118G>A). This study aimed to determine the allele and genotype frequencies of this mutation in a group of Belgian Malinois dogs in Greece.

Materials and Methods: Samples (n=72) of whole blood were collected from 72 purebred dogs of the Hellenic Armed Forces; these samples were processed for DNA isolation, polymerase chain reaction, and digestion with the restriction endonuclease AcuI. Sample testing was conducted in compliance with ISO17025 accreditation requirements.

Results: The observed relative genotype frequencies were 71% for the homozygous (GG), 25% for the heterozygous (AG), and 4% for the homozygous mutant (AA) alleles. These frequencies were close to those expected, indicating no significant departure from Hardy–Weinberg equilibrium (HWE, p=0.395). The frequency of heterozygous animals indicates that a high risk of developing CDM in forthcoming generations exists in the tested population because mating among carriers would result in 25% AA progeny. The medical record of the group of study animals indicated selection against leishmaniosis, as applied throughout generations by owners and breeders. The potential association of this selection with the HWE status of the study population was discussed.

Conclusion: The SOD1:c.118G>A mutation was common in the tested group of dogs; thus, they are suitable for a follow-up investigation on the development and progression of CDM. A case-control study on animals with evidence of sensitivity to infectious myelopathy could provide new insights into disease pathogenesis.

Animal geneticists' unvarying endeavor to maximize profit from livestock can be achieved by improving the genetic potential using appropriate selection methods. Genetic selection is an important tool for gaining maximum benefit from livestock. The improved reproductive efficiency and increased fertility rate of animal will ultimately pave the way for economic benefit of farmers. However, improvement of reproductive traits through selection is usually difficult to accomplish due to low heritability of traits. Therefore, immense efforts are being made to search some of major genes that would influence fecundity of animal. In this present context we focus on various SNPs of prolific genes associated with prolificacy in goat.

Aim:  The aim  of the present  study  was to analyze the association between vitamin D receptor (VDR) (rs10735810) gene polymorphism and chronic periodontitis (CP). Methods:  A total of  100 subjects were recruited for this study, which included 50 CP and 50 healthy  controls. Genomic DNA was extracted from  the whole blood collected from the subjects. DNA was amplified using specific primers flanking the  FokI region of  the  VDR  gene  (rs10735810). The amplicon was further subjected to genotyping using restriction fragment length polymorphism (RFLP) using the  FokI  enzyme. The  genotype  obtained  based  on  RFLP pattern  was  recorded  and  used  for  statistical analysis. The distribution of  genotypes and allele frequencies in the chronic periodontitis and control groups were compared using the  χ2‐test. Results:  The CP  group  displayed the highest  frequency  of  CT  (20%) and TT (6%) genotypes when compared with the control subjects. Allele frequency was found to be similar in both groups. The C allele was found to be predominant  in the study population compared with the T allele. Conclusion:  The present  study  denotes that  the  VDR  polymorphism  (rs10735810) is not associated with CP in the study group analyzed.

Results of population genetic study among eastern Khants from a collection of biological material of
ecological genetics lab. RCMG were presented. On a wide range of biochemical-genetic markers (HP, TF,
GC, PI, ACP, PGM1, GLO1, ESD) and autosomal DNA polymorphisms (CHIT1, ABCC11,NOS3 ) among
Khantian population of Yugan and Agan rivers drainage-basins were analyzed. The gene pool of eastern
Khants includes characters peculiar to both for eastern Eurasian and western Eurasian populations. One of
the main objectives of our work was establishment of the ethnic anthropological importance «new» autosomal
DNA polymorphisms. High degree of CHIT1 polymorphism efficiency in the anthropological relation was
established. The share of western Eurasian genetic component in studied Khantian group forms 43.3% and
eastern Eurasian proportion was 56.7%. Our data about serological and biochemical genetic markers (AB0,
MN, RH, TF, GC, C’3, PI, ACP, PGM1, ESD, GLO1) allows to estimate genetic relationship between Khants
and neighboring and more remote Finno-Ugric and

Behavioural polymorphisms associated with morphs with a known genetic basis are interesting to study since they provide a model system to investigate the molecular basis of complex behaviours. Whitethroated sparrows are one of such rare models, presenting two morphologies and behavioural types, tan and white, caused by a chromosomal rearrangement. The behavioural differences have been mainly studied during reproduction, defining two morph-specific breeding strategies and different levels of aggression between morphs. Outside of the breeding season, the morphological differences are less apparent, morphs are more difficult to distinguish and the behavioural polymorphism is poorly understood. In this study, we caught wild individuals during the winter, determined their morph by genetic analysis, and analysed the differences in behaviour between morphs when encountering a novel object under standardized conditions in captivity. White morphs are more aggressive during reproduction; therefore, we expected them to be less affected by the presence of the novel object than tan morphs; animal personality research shows that more aggressive individuals are less affected by the presence of novel objects (i.e. neophilic). Contrary to our expectations, white morphs were more neophobic than tan morphs, and within morphs, males were more neophobic than females. Furthermore, white morph individuals and males of both morphs suffered greater weight loss during captivity compared to tan morphs and females, respectively, suggesting that the response to captivity-induced stress differs between morphs and between sexes. Finding behavioural differences between morphs not related to reproduction implies a broader impact of the effects of the chromosomal  rearrangement on the behavioural polymorphism in this species.


Keywords: animal personality behavioural polymorphism novel object test white-throated sparrow Zonotrichia albicollis