Molecular basis of esterase D polymorphism in the pig.
Department of Legal Medicine and Human Genetics, Jichi Medical School, Minami kawachi-machi, Tochigi-ken, Japan.Animal Genetics (Impact Factor: 2.58). 01/2001; 31(6):413-4. DOI:10.1046/j.1365-2052.2000.00690.x
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ABSTRACT: The two polymorphic alleles of esterase D (ESD), ESD*5 and ESD*7, are specific to Europeans and Asians, respectively. In this study the molecular basis was characterized: ESD*5, arising from ESD*1, has a G to A transition, resulting in Gly 257 (GGT)VAsp(GAT); and ESD*7, originating from ESD*2, has an A to G transition, resulting in Asp 231 (GAT)V Gly(GGT). Glycine is also involved in the common ESD*1/ESD*2 polymor- phism (Gly 190 (GGA)V Glu(GAA)). Haplotype analysis using a few novel intragenic polymorphisms showed strong associations among polymorphic sites, suggesting that recombination has been less frequent in the human ESD gene, although it spans about 25 kb from exon 1 to exon 10. A marked difference was observed in the distribution of haplotype frequencies between Germans and Japanese.
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