The SNP Consortium website (http://snp.cshl.org) has undergone many changes since its initial conception three years ago. The database back end has been changed from the venerable ACeDB to the more scalable MySQL engine. Users can access the data via gene or single nucleotide polymorphism (SNP) keyword searches and browse or dump SNP data to textfiles. A graphical genome browsing interface show...

The use of the three genetic models viz. additive, dominant and recessive in Genome-wide association study (GWAS) is a common powerful approach to between variants trait (disease). selection these depends on pattern inheritance scope study. GWAS typically focuses single-nucleotide polymorphism (SNPs) human diseases case-control setup. In order this type risk genotype phenotype for given pattern...

The brain-derived neurotrophic factor (BDNF) Val66Met polymorphism is a common human single nucleotide polymorphism (SNP) that affects the regulated release of BDNF, and has been implicated in affective disorders and cognitive dysfunction. A decreased activation of the infralimbic medial prefrontal cortex (IL-mPFC), a brain region critical for the regulation of affective behaviors, has been des...

Results 50 BD patients (median age: 38.30±11.06 years) and 51 controls (median age: 33.88±12.47 years) were recruited. Three types of mutations have found. First: A single nucleotide polymorphism (SNP) c.769-38C>T (rs35191208) in 21 of 50 BD patients and in 15 of 51 controls. Both groups were comparable for the frequency of c.769-38C>T (p>0,05). In all of the cases with c.76938C>T, a second SNP...

This thesis is based on the following publications, which are referred to in the text by their Roman numerals. " Silhouette " scores for assessment of SNP genotype clusters. BMC Genom-ics.resolution, high-throughput SNP mapping in Drosophila melanogaster. Positional cloning by fast-track SNP-mapping in Droso-phila melanogaster. Dried reagents for multiplex genotyping by tag-array minisequencing...

BACKGROUND Once metastasized, despite a variety of therapeutic options, the prognosis of patients with malignant melanoma (MM) is still poor. Therefore, the search for reliable markers to identify patients with high risk of disease progression is of high clinical importance. We have recently shown that TT genotypes of the single-nucleotide polymorphism (SNP) T393C in the gene GNAS1 are signific...

BACKGROUND Our previous studies have showed that the rs5888 single nucleotide polymorphism (SNP) in Scavenger receptor class B type 1 (SCARB1) gene is associated with serum lipid levels in the general Chinese populations. The present study was undertaken to detect the associations between rs5888 SNP and the risk of coronary artery disease (CAD) and ischemic stroke (IS). METHODS A total of 1,7...

INTRODUCTION Genetic variations in the calpain 10 gene (CALPIN-10), single nucleotide polymorphisms-43 (SNP-43), have increased the risk of type 2 diabete mellitus (T2DM) and coronary artery disease (CAD). METHODS We studied the control and CAD groups for association of association of SNP-43 in the CALPIN-10 gene with T2DM and other risk factors of its complications. Overall, we examined 452 ...

Hypoxia-inducible factor-2α (HIF-2α, or EPAS1) is important for cancer progression, and is a putative biomarker for poor prognosis for non-small cell lung cancer (NSCLC). However, molecular mechanisms underlying the EPAS1 overexpression are not still fully understood. We explored a role of a single nucleotide polymorphism (SNP), rs13419896 located within intron 1 of the EPAS1 gene in regulation...

In order to develop a novel system for the discrimination of five ginseng cultivars (Panax ginseng Meyer), single nucleotide polymorphism (SNP) genotyping assays with real-time polymerase chain reaction were conducted. Nucleotide substitution in gDNA library clones of P. ginseng cv. Yunpoong was targeted for the SNP genotyping assay. From these SNP sites, a set of modified SNP specific fluoresc...