Polymorphism coding region

Arranz, M. J., Munro, J., Owen, M. J. et al. (1998). Evidence for association between polymorphisms in the promoter and coding regions of the 5-HT2A receptor gene and response to clozapine. Mol. Psychiatry, 3, 61-6. 

Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet 1999 22 231-238. 

Cargill, M., et al., "Characterization of Single-Nucleotide Polymorphisms in Coding Regions of Human Genes," Nat. Genet., 22, 231-238 (1999). 

Most repetitive sequences are not in coding regions. Because expansion of these sequences in spacer DMA rarely affects any function, they become highly polymorphic in the population and can be used to develop a genetic fir erprint. Such fingerprints are important in paternity testing and forensic medicine. Very small samples containing dried tissue can be analyzed by this technique. 

The ACE gene encodes two isozymes (somatic ACE isozyme and germinal ACE isozyme). ACE is a membrane-bound enzyme on the surface of vascular endothelial cells that also circulates in plasma and shows great individual variability determined by an I/D polymorphism in intron 16 of the ACE gene (ACE-I/D polymorphism). More than 160 ACE polymorphisms have been reported, 34 of which are located in coding regions, and 18 are missense mutations (606). ACE-related polymorphic variants have been associated with hypertension, atherosclerosis, stroke, left ventricular hypertrophy, chronic renal failure in IgA nephropathy, Henoch-Schonlein purpura nephritis, mechanical efficiency of skeletal muscle, intracranial aneurysms, susceptibility to myocardial infarction, diabetic nephropathy, AD, and longevity (12,606,607). 

Araki K, Fujita K, Ando Y et al. Pharmacogenetic impact of polymorphisms in the coding region of the UGTIA 1 gene on SN-38 glucuronidation in Japanese patients with cancer. Cancer Sci 2006 97 1255-1259. 

Methylentetrahydrofolate dehydrogenase (MTHFDl) is a 72,429 base pair gene with 27 exons located on chromosome 14q24 (13). To date, eight coding region polymorphisms have been reported in dbSNP with limited data on ethnic group frequency... 

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