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 (...

The Applied Biosystems PRISM fluorescence-based genotyping system as well as the Invitrogen TA Cloning vector system are influenced by the tendency of Taq DNA polymerase to add an adenine nucleotide to the 3' end of PCR products after extension. Incomplete addition of adenine to a majority of PCR product strands creates problems in allele-calling during genotyping and potentially diminishes the...

Plasma concentrations of HDL (high-density lipoprotein) cholesterol are low in the Saudi Arabian population. A B polymorphism at the CETP (cholesteryl ester protein transfer) locus that is detectable with the restriction enzyme Taq I is a genetic determinant of the plasma HDL cholesterol concentration. We assessed the relationship between the Taq I B CETP polymorphism and lipid and apolipoprote...

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 (...

We have developed a method for the direct analysis of a hypoxanthine-guanine phosphoribosyltransferase (HPRT) allele associated with a deficiency of enzyme activity and an early onset of gout. The functionally abnormal enzyme coded for by this mutant allele (HPRTToronto) differs from the normal enzyme by an arginine-to-glycine substitution at position 50. A single base change in the codon for a...

AIMS To investigate the associations between the Rsa I, Dra I, and Taq I genetic polymorphisms of cytochrome p4502E1 and susceptibility to alcoholic liver disease or to hepatocellular carcinoma. METHODS DNA samples isolated from 61 patients with alcoholic liver disease, 46 patients with hepatocellular carcinoma, and 375 healthy controls were subjected to polymerase chain reaction amplificatio...

Cystic fibrosis (CF) is characterized by progressive and ultimately fatal pulmonary disease although there are notable variations in clinical features. This heterogeneity is thought to lie outside the cystic fibrosis transmembrane regulator (CFTR) gene locus and may stem from deficiencies in the antiproteinase screen that protects the lung from proteolytic attack. One hundred and fifty seven pa...

The TaqMan® SNP genotyping technology utilizes the 5’ nuclease activity of Taq polymerase to generate a fluorescent signal during PCR. For each SNP, the assay uses two TaqMan probes that differ in sequence only at the SNP site, with one probe complementary to the wild-type allele and the other to the variant allele. The technique utilizes the FRET technology whereby a 5’ reporter dye and a 3’ q...