黑素皮质激素受体1基因单核苷酸多态性与发色的相关性

The association of melanocortin receptor 1 gene polymorphism with hair color

目的通过检测人类黑素皮质激素受体1(MC1R)基因的单核苷酸多态性(SNP)在黑发和非黑发色群体中的分布,探讨MC1R基因与发色表型的相关性。方法采用DNA测序技术,选择黑发色和非黑发色人群的DNA为样本,对MC1R基因进行SNP位点检测和分析。结果 MC1R基因包括4个SNP位点(T176G、G274A、G488A和A942G),各位点等位基因频率分布分别为:176T和G在黑发色人群0.758和0.242,在非黑发色人群0.817和0.183;274A和G在黑发色人群0.25和0.75,在非黑发色人群0.183和0.817;488A和G在黑发色人群0.675和0.325,在非黑发色人群0.758和0.242;942A和G在黑发色人群0.9和0.1,在非黑发色人群0.933和0.067。MC1R基因基因型和等位基因频率的分布在黑发色和非黑发色之间的差别不具有统计学意义。结论 MC1R基因多态性与发色间不存在相关性。

Objective To evaluate the relationship between the melanocortin receptor 1 gene（MC1R） and hair color by comparing the single nucleotide polymorphism（SNP）of human with black hair and those with no-black hair.Methods DNA extracted from specimens of human with black and no-black hair were analyzed and sequenced.Results MC1R gene contains 4 SNP points,and the distribution of T176G was T=0.758,G=0.242 in black group and T=0.817,G=0.183 in no-black group.And the distribution of G274A was A=0.25,G=0.75 in black group and A=0.183,G=0.817 in no-black group.And the distribution of G488A was A=0.675,G=0.325 in black group and A=0.758,G=0.242 in no-black group.And the distribution of A942G was A=0.9,G=0.1 in black group and A=0.933,G=0.067 in no-black group.There were no statistically significant differences in the 4 SNP of MC1R gene between the black and no-black hair people.Conclusion There is no relationship between SNP of MC1R gene and hair color.