Genotyping polymorphisms

There is genotypic polymorphism within populations (Arnold 1981a)... 

Tan RM, Zehnbauer B, Picus J et al. TYMS genotype polymorphism directed neoadjuvant chemora-diation for patients (pts) with T3/T4 adenocarcinoma of the rectum (Abstract). 2006Gastrointestinal Cancers Symposium 2006. 

Halmos, B., Szalay, F., Cserniczky, T., Nemesanszky, E., Lakatos, R, Barlage, S., Schmitz, G., Romics, L., Csaszar, A. Association of primary bihary cirrhosis with vitamin D receptor Bsml genotype polymorphism in a Hungarian population. Dig. Dis. Sci. 2000 45 1091-1095... 

Genotype— Polymorphic forms of alcohol dehydrogenases and acetaldehyde dehydrogenases can greatly affect the rate of ethanol oxidation and the accumulation of acetaldehyde. CYP2E1 activity may vary as much as 20-fold between individuals, partly because of differences in the inducibility of different allelic variants. 

Key Words Genotyping polymorphism single nucleotide polymorphism (SNP) simple sequence repeat (SSR) tandem repeat insertion deletion. 

Key Words Fragment size analysis capillary electrophoresis genotyping polymorphism polymerase slippage. 

A number of studies have been done exploring the potential associations of Pb exposure and Pb nephropathy modified by the ALAD genotype polymorphism. These studies are presented in Table 15.6. Five of the six cohorts... 

TPMT genotype polymorphisms (TPMT 2, 3A, 3B, and 3C) have been studied in 108 patients with vascuhtis associated with positive antineutrophil cytoplasmic antibodies (ANCA), who were given azathioprine and followed for 47 months [144. Adverse reactions (leukopenia, anemia, thrombocytopenia, gastrointestinal adverse reactions including hepatitis, and hypersensitivity reactions) did not differ between patients who were heterozygous and those who were homozygous or between the ter-tiles of patients who were homozygous. 

Allele variant forms oftheDNA sequence at a specified locus. For example, alleles at a single-nucleotide polymorphism (SNP) are characterized by the nucleotide that is changing. The combination of two alleles at a locus constitutes a genotype. 

Their activities may be altered in diseased tissues (eg, cirrhosis), affecting drug metabolism Genotyping the P450 profile of patients (eg, to detect polymorphisms) may in the future permit individualization of drug therapy... 

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