| 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 |
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| 引用本文： | 苏洁,张博,邓亚军.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[J].检验医学与临床,2011,0(13):1537-1538,1540. |
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| 作者姓名： | 苏洁 张博 邓亚军 |
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| 作者单位： | 华大方瑞司法物证鉴定中心,北京,101318 |
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| 基金项目： | 北京市新世纪百千万人才工程项目 |
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| 摘 要： | 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。
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| 关 键 词： | 黑素皮质激素受体1基因 单核苷酸多态性 发色 |
The association of melanocortin receptor 1 gene polymorphism with hair color |
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| SU Jie,ZHANG Bo,DENG Ya-jun.The association of melanocortin receptor 1 gene polymorphism with hair color[J].Laboratory Medicine and Clinic,2011,0(13):1537-1538,1540. |
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| Authors: | SU Jie ZHANG Bo DENG Ya-jun |
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| Institution: | SU Jie,ZHANG Bo,DENG Ya-jun(Center of Forensic Sciences,Beijing Genomics Institute,Beijing 101318,China) |
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| Abstract: | 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 gr... |
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| Keywords: | melanocortin receptor 1 gene single nucleotide polymorphism hair color |
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