Melanocortin-1 receptor gene variants in four Chinese ethnic populations

查看全文 作　　者：[1]ShiP;[2]LuXM

机构地区：[1]LaboratoryofCellularandMolecularEvolution,KunmingInstituteofZoology,theChineseAcademyofSciences,Kunming650223,China;[2]LaboratoryofCellularandMolecularEvolution,KunmingInstituteofZoology,theChineseAcadem

出　　处：《Cell Research》索引2001年第11卷第1期,共4页

摘　　要：There is strong relationship between melanocortin-1 receptor (MCIR) gene variants and human hair color and skin type. Based on a sequencing study of MC1R gene in 50 individuals from the Uygur, Tibetan, Wa and Dai ethnic populations, we discuss the occurrence of 7 mc1r variants consisting of 5 nonsynonymous sites (Val60Leu, Arg67Gln, Val92Met, Arg163Gln and Ala299Val) and 2 synonymous sites (C414T and A942G), among which C414T and Ala299Val were reported for the first time. Confirmation and analysis were the made of 122 individuals at three common point mutations (Val92Met, Arg163Gln, A942G) using PCR-SSCP. The frequency of Arg163Gln variant varies in the four ethnic populations, with percentage of 40%, 85.0%, 66. 2% and 72.7%, respectively, while those of Val92Met and A942G are roughly similar in these four populations. The different environments, migration and admixture of various ethnic groups in China might have impact on the observed frequency of Arg163Gln. 关键词：黑质皮质素受体基因少数民族同义位点非同义位点中国

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Melanocortin-1 receptor gene variants in four Chinese ethnic populations

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