The conjunction of high resolution genetic maps based on (CA)n microsatellite markers (1) and fluorescent genotyping (2) has led to research programs which require the determination of hundreds of thousands of genotypes. However, the migration profile of a (CA)n microsatellite marker after PCR (polymerase chain reaction) is often complicated because of slippage of Taq polymerase during PCR, and...

As the sole renal Na,K-ATPase isozyme, the a, Na,K-ATPase accounts for all active transport of Na throughout the nephron. This role in renal Na reabsorption and the primacy of the kidney in hypertension pathogenesis make it a logical candidate gene for salt-sensitive genetic hypertension. An adenine (A)—>thymine (T) transversion, resulting in the substitution of glutamine with leucine and assoc...

INTRODUCTIONThis protocol describes the oligonucleotide ligation assay (OLA), which uses a set of three oligonucleotides, in combination with a thermostable Taq DNA ligase enzyme, to discriminate single-nucleotide polymorphism (SNP) alleles. Sixteen-plex OLA genotyping reactions are carried out, and allele-specific OLA products are detected on membrane arrays using radiolabeled probes.

PCR amplification and detection of GC rich sequences in DNA is a challenge due to formation secondary structures which resist denaturation, thereby stalling Taq polymerases as well affecting primer annealing. Presently, high fidelity polymerase used for amplifying long GC-rich fragments, while dimethyl sulfoxide (DMSO) has also been suggested an additive Polymerase Chain Reaction (PCR) mix avoi...

BACKGROUND The aim of the study was to determine the influence of DRD2 gene polymorphisms in exon 8 G/A (rs 6276) in the promoter region -141 C Ins/Del (rs1799732) and the influence of ANKK-1 gene Taq-1A polymorphism (rs 1800497) on the preference of increasing sucrose concentrations in men with alcohol dependence. SUBJECTS AND METHODS 63 male patients with alcohol dependence were genotyped f...

Objective Genetic and environmental factors are important in the development of the multiple sclerosis (MS). Vitamin D shows its effects on the immune system with the vitamin D receptor (VDR) in the nucleus. Single nucleotide polymorphisms (SNPs) in the VDR gene can lead to alterations in vitamin D functions and metabolism.Taq I, Apa I, Fok I and Bsm I polymorphisms and MS associations have bee...

BACKGROUND Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D₃ has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages...

background attention deficit hyperactivity disorder (adhd) is a multi-factorial disorder that has defined by hyperactivity, impulsivity and attention deficits. various neurotransmitters such as dopamine can play a role in its pathophysiology. the aim of this study was to examine the association of two common single nucleotide polymorphisms in drd2 gene, taq i a (t/c) and taq i b (g/a), with adh...

Although genetic variants that affect susceptibility to coronary artery disease (CAD) have been greatly known, a number of these single nucleotide polymorphisms (SNPs) remain to be analyzed in populations with different ethnicities. CAD is influenced by numerous genetic, environmental, and lifestyle factors, and is an important reason for mortality around the globe. In this study, a novel SNP (...

Background: Several studies have provided strong evidence that gene variants at the cyclin-dependent kinase inhibitor 2B antisense non-coding RNA (CDKN2BAS1) locus of 9p21 is an important risk factor in the development of primary open angle glaucoma (POAG) making it a strong candidate for risk factor screening. Objectives: The present study investigated the possible association of SNP rs2157719...