introduction: long-term levodopa treatment of parkinson’s disease (pd) is frequently complicated by spontaneously occurring involuntary muscle movements called dyskinesia. the exact pathological mechanism of this complication has not yet been elucidated. we have previously demonstrated that in pd patients the vulnerability to develop peripheral but not orofacial dyskinesia is associated with th...

Inherited disease susceptibility in humans is most commonly associated with single nucleotide polymorphisms (SNPs). The mechanisms by which this occurs are still poorly understood. We have analyzed the effect of a set of disease-causing missense mutations arising from SNPs, and a set of newly determined SNPs from the general population. Results of in vitro mutagenesis studies, together with the...

Single nucleotide polymorphisms (SNPs) are the most frequent form of human genetic variation. They are of fundamental importance for a variety of applications including medical diagnostic and drug design. They also provide the highest–resolution genomic fingerprint for tracking disease genes. This paper is devoted to algorithmic problems related to computational SNPs validation based on genome ...

this is the first description of the polymorphisms of arylalkylamine-n-acetyltransferase (aa-nat) gene in indian goats with different reproductive traits (twinning percentage and age of sexual maturity). based on the important role of aa-nat in reproduction, it is considered as a possible candidate gene for this trait. two novel synonymous snps, c825t (exon2) and c1249t (exon3) were identified....

in this research, samples were collected from three iranian native dogs and three wolves. whole-genome sequencing for each individual was performed using next-generation sequencing technology. all short reads were aligned to the reference genome using bwa tool. single-nucleotide polymorphisms (snps) and small insertions and deletions (indels) were detected using the genome analysis toolkit (gat...

objective(s): multiple sclerosis (ms) is an autoimmune demyelinating disease of the central nervous system (cns) with unknown etiology. various genetics and environmental factors contribute to the pathogenesis of the disease. the interleukin-7 receptor alpha chain (il-7ra) was identified as the first non-major histocompatibility complex (non-mhc) ms susceptibility locus. in this study we are tr...

Background: Metformin is an insulin sensitizing drug, which is co-administered with Clominophene citrate or gonadotropins in most cases of polycystic ovary syndrome (PCOS), to improve ovulation. STK11 gene is necessary for action of metformin. Therefore the study of STK11 polymorphisms is important as pharmacogenetics aspects of metformin. The aim of our study was to investigate polymorphism of...

The aim of this study was to investigate effects of DGAT1, OPN and PPARGC1A candidate genes on milk production traits in Iranian Holstein cattle. Several papers have studied single nucleotide polymorphisms (SNPs) and their association with economic traits in dairy cows, but the combined effect of these genes has not been examined in Iranian Holstein cattle population. Blood samples were collect...