Peng S, Lu X M, Luo H R, Xiang-Yu J G, Zhang Y P
Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, the Chinese Academy of Sciences.
Cell Res. 2001 Mar;11(1):81-4. doi: 10.1038/sj.cr.7290070.
There is strong relationship between melanocortin-1 receptor (MC1R) 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 also 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.
黑皮质素-1受体（MC1R）基因变异与人类头发颜色和皮肤类型之间存在密切关系。基于对维吾尔族、藏族、佤族和傣族50名个体的MC1R基因测序研究，我们探讨了由5个非同义位点（Val60Leu、Arg67Gln、Val92Met、Arg163Gln和Ala299Val）和2个同义位点（C414T和A942G）组成的7个mc1r变异的发生情况，其中C414T和Ala299Val为首次报道。还使用PCR-SSCP对122名个体的三个常见点突变（Val92Met、Arg163Gln、A942G）进行了验证和分析。Arg163Gln变异在这四个民族中的频率各不相同，分别为40%、85.0%、66.2%和72.7%，而Val92Met和A942G在这四个群体中的频率大致相似。中国不同民族的不同环境、迁移和混合可能对观察到的Arg163Gln频率产生影响。
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