白癜风患者黑素刺激素受体1单核苷酸多态性分析刘宝珩郭洪杨韶艳.DOCVIP

白癜风患者黑素刺激素受体1单核苷酸多态性分析 刘宝珩 郭洪 杨韶艳 宋秋荷 白云 郝飞 摘 要：目的 检测白癜风患者黑素刺激素受体1（MC1R）基因编码区的单核苷酸多态性（SNP），探讨其在白癜风发病中的作用。方法 提取40例寻常型白癜风患者和38例对照组血液中的基因组，PCR扩增MC1R基因，用直接测序法检测多态性，结合文献报道的结果，χ2检验分析比较SNP的发生和分布以及频率差异。 结果 白癜风人群和对照组MC1R基因共发现5个SNP位点G274A(Val92Met）、T359C（His120His）、G488A（Gln163Arg）、C491A(Ala164Gln)、A942G(Thr312Thr)，其中多态性较高的两个位点是G274A(Val92Met）和G488A（Gln163Arg）；白癜风组Val92Met位点和Gln163Arg位点的多态性频率分别为26.25％和81.25％，而正常对照人群分别为22.37％和57.89％，χ2检验提示白癜风组与对照组Gln163Arg之间有显著差异（χ2＝9.966，Ｐ＜0.01）；白癜风组与文献组之间Gln163Arg多态性也差异显著（χ2＝6.214，0.01＜Ｐ＜0.05）；对照组与文献组之间均无显著差异。三组之间的Val92Met位点多态性无显著差异。新发现了一个变异位点C491A(Ala164Gln)。 结论 Gln163Arg的变异和白癜风发病可能有关，Val92Met和白癜风发病无明显相关。发现一个新的MC1R基因变异位点C491A(Ala164Gln)。 关键词：白癜风，MC1R，单核苷酸多态性 Assessment of polymorphisms in melanocortin-1 receptor (MC1R) genes in vitiligo patients LIU Bao-heng, GUO Hong, YANG Shao-yan, SONG Qiu-he, BAI Yun, HAO Fei Dermatology of Southwest Hospital , Third Military Medical University , Chongqing 400038 , china Abstract: Objective To detect the polymorphisms of coding reigon of melanocortin-1 receptor (MC1R) genes, in order to study the relationship between it and pathogenesis of vitiligo. Methods 　Forty patients with vitiligo (disease group) and thirty-eight normal control subjects (control group) were recruited. The MC1R gene were extracted from the blood，and amplified by PCR. Then the sequences of them were detected.χ2 analysis was used to assess the frequencies of the SNP of the MC1R among the disease group, control group and literature group. Results 　In disease group and control group, 5 MC1R coding region single nucleotide polymorphisms(SNPs) were founded: G274A(Val92Met), T359C(His120His), G488A(Gln163Arg), C491A(Ala164Gln) and A942G(Thr312Thr). Among them, G274A(Val92Met) and G488A(Gln163Arg）had much higher frequencies. G274A(Val92Met) is 26.25% in patient group vs. 22.37% in control group, and G488A(Gln163Arg) is 81.25% in patient group vs. 57.89% in control group. Significant difference was found in Gln163Arg between dis