Molecular Basis of ESD*5 and ESD*7 and Haplotype Analysis with New Polymorphisms in Introns
Molecular Basis of ESD*5 and ESD*7 and Haplotype Analysis with New Polymorphisms in Introns
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ESD*5 和 ESD*7 的分子基础以及内含子新多态性的单倍型分析
DOI：
10.1353/hub.2004.0051
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发表时间：
2004
期刊：
影响因子：
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通讯作者：
J. Henke
中科院分区：
文献类型：
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作者：
I. Yuasa;K. Umetsu;S. Tsuchida;Y. Irizawa;L. Henke;J. Henke
酯酶D(ESD)的两个多态等位基因ESD*5和ESD*7分别是欧洲人和亚洲人特有的。在这项研究中，分子基础是：源于EsD*1的EsD*5有G到A的转变，导致Gly257(GGT)→天冬氨酸(Gat)；来源于EsD*2的EsD*7有A到G的转变，导致Asp231(Gat)→Gly(GGT)。甘氨酸也参与常见的esd*1/esd*2多态[Gly190(GGA)→Glu(GAA)]。利用几个新的基因内多态进行的单倍型分析显示，多态位点之间存在很强的相关性，这表明人类ESD基因的重组频率较低，尽管它从外显子1到外显子10大约有25kb。德国人和日本人的单倍型频率分布有显著差异。
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 Gly257 (GGT)→Asp(GAT); and ESD*7, originating from ESD*2, has an A to G transition, resulting in Asp231 (GAT)→ Gly(GGT). Glycine is also involved in the common ESD*1/ESD*2 polymorphism [Gly190 (GGA)→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.