MC1R基因多态性与雀斑相关性研究在法医学个人识别中的应用.docVIP

  MC1R 基因多态性与雀斑相关性研究在法 医学个人识别中的应用# 曹利平，丛瑞娟，吴谨，叶懿，廖淼，颜静** 5 10 15 20 25 30 35 40 （四川大学华西基础医学与法医学院法医遗传学教研室，成都 610041） 摘要：【目的】探讨黑素皮质素受体 1（melanocortin-1 receptor，MC1R）基因 Val92Met （rs2228479）和 Arg163Gln（rs885479）位点单核苷酸多态性（single nucleotide polymorphisms， SNPs）在中国成都地区汉族人群中与雀斑发生的遗传相关性，为寻找与雀斑体貌相关联的 MC1R 基因 SNPs 位点进行初步研究。【方法】收集 111 例雀斑个体血液样本和 124 例无雀 斑对照者血液样本，应用焦磷酸测序技术（Pyrosequencing）对 MC1R 基因 rs2228479 和 rs885479 位点基因型进行测定。直接计数法分别对两 SNP 位点在雀斑组与对照组的基因型 分布及等位基因频率进行统计，运用 χ2 检验分别检测两位点在两组内的差异与雀斑发生的 相关性。【结果】rs2228479 在雀斑组和对照组的基因型分布分别为：A/A 2.7％、A/G 40.5 ％、G/G 56.8％和 A/A 4.8％、A/G 36.3％、G/G 58.9％；rs885479 在雀斑组和对照组的基因 型分布分别为：T/T 28.8％、T/C 59.6％、C/C 11.7％和 T/T 39.5％、T/C 47.6％、C/C 12.9％。 经 χ2 检验，两 SNP 位点基因型分布与等位基因频率在雀斑组与对照组之间的差异 P 值均大 于 0.05，无统计学意义。【结论】在成都地区汉族人群中，尚不能认为 MC1R 基因 rs2228479 和 rs885479 位点单核苷多态性与雀斑发生相关。 关键词：MC1R；雀斑；单核苷酸多态性（SNP）；Pyrosequencing 中图分类号：R394.3 Association between MC1R gene polymorphisms and freckles for use in personal identification CAO Liping, CONG Ruijuan, WU Jin, YE Yi, LIAO Miao, YAN Jing (Department of Forensic Genetics,West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041) Abstract: Objective Investigated the associations of melanocortin-1 receptor (MC1R) gene single nucleotide polymorphisms, Val92Met （rs2228479）and Arg163Gln（rs885479）with freckles in Chinese Han population from Chengdu, for preliminary study of the associations between MC1R gene polymorphisms and freckles. Methods Pyrosequencing technology was applied to genotype rs2228479 and rs885479 in 111 freckles and 124 non-freckles control blood samples. The relationship of freckles with the genotypes and allele frequency of the freckles and control samples were detected by χ2 test. Results The genotype distribution of rs2228479 in the freckles and control samples were ：A/A 2.7﹪,A/G 40.5﹪,G/G 56.8﹪ and A/A 4.8﹪,A/G 36.3 ﹪,G/G 58.9﹪respectively, and rs885479 were T/T 28.8﹪,T/C 59.6﹪,C/C 11.7﹪ and T/T 39.5 ﹪,T/C 47.6﹪,C/C 12.9﹪. The results suggest that ther