MC1R基因与雀斑表型相关的SNP位点检测.docVIP

  MC1R 基因与雀斑表型相关的 SNP 位点检 测# 曹利平1，张旭2，丛瑞娟1，吴谨1，叶懿1，廖淼1，颜静1** 5 10 15 20 25 （1. 四川大学华西基础医学与法医学院法医遗传学教研室 四川省成都市人民南路三段 16 号 610041； 2. 泸州医学院基础医学院病理科 四川省泸州市 646000） 摘要：【目的】筛查成都地区汉族人群黑素皮质素受体 1(melanocortin 1 receptor，MC1R)基 因与雀斑相关联的 SNPs。【方法】随机抽取 20 例无血缘关系个体血液样本， MC1R 基因 全序列测定搜索在中国汉族人群中具有较好多态性的 SNPs。收集雀斑样本 113 例与正常样 本 200 例，高盐沉淀法提取并定量基因组 DNA。构建雀斑组和正常组 DNA 样本池，采用 Pyrosequencing 技术分析各 SNPs 位点的等位基因频率，运用χ 2 检验检测每个位点在两组 内的差异与雀斑发生的相关性。【结果】所测 MC1R 基因全长为 3099bp，共搜索到 11 个 SNPs,检测 11 个 SNPs 位点在雀斑组和正常组中的等位基因频率差异均小于 5%。此 11 个 SNPs 位点等位基因频率经过χ 2 检验，在雀斑组和正常组中差异均无统计学意义，P 值均大 于 0.05。【结论】在中国成都地区汉族人群中，尚未发现 MC1R 基因与雀斑发生明确相关 性的 SNPs 位点。 关键词：SNPs；雀斑； MC1R；体貌特征 中图分类号：R394.3 Observation of Freckles Phenotype Associated SNPs in the MC1R Gene CAO Liping1, ZHANG Xu2, CONG Ruijuan1, WU Jin1, YE Yi1, LIAO Miao1, YAN Jing1 (1. Department of Forensic Genetics, West China School of Preclinical (1. Department of Forensic Genetics,West China School of Preclinical and Forensic Medicine,Sichuan University,16 Renmin South Road,Chengdu,610041; 2. Department of Pathology, Luzhou Medical College, China, Sichaun Provience, Luzhou 30  Abstract: 64600 ）) Objective Investigate single nucleotide polymorphisms of MC1R gene and the relationship with freckles in Chinese Han population from Chengdu. Methods The whole sequence of MC1R gene was sequenced to detect highly polymorphic SNPs from twenty randomly selected samples which are unrelated. Genomic DNA were extracted by salt-extraction method from 113 35 freckles and 200 non-freckles samples, freckles and non-freckles DNA pool was prepared using these DNA fragments. The allele frequencies of each SNPs were evaluated by Pyrosequencing, and the relationship of freckles with allele frequencies of the freckles and control samples were detected by χ2 test. Results Eleven SNPs were found through the 3099 bp MC1R gene sequencing, and the allele frequency differences of each SNP in freckles and control groups were 40 less than 5% after pyrosequencing. These