摘要
目的探讨黑素皮质素受体1（melanocortin一1receptor，MCIR）基因单核苷酸多态性（singlenucleotidepolymorphism，SNP）与成都地区汉族人群中雀斑发病的相关性。方法随机抽取20份无血缘关系个体血液样本，测序筛查MCIR基因用于与雀斑发生进行关联分析的SNPs。收集111例雀斑患者和124名正常对照个体的外周血样本，焦磷酸技术结合DNA池对筛查到12个SNPs位点的等位基因频率进行定量分析，选择能引起氨基酸改变和多态性较好的位点，分别应用焦磷酸技术和聚合酶链反应一限制性片段长度多态技术进行单个样本基因型鉴定。结果经焦磷酸技术结合DNA池初筛，从测序所得到的12个SNPs位点中，选择rs2228479、rs885479、rs33932559和rs2228478这4个SNP位点进行单个样本基因型鉴定。4个SNPs位点基因型频率和等位基因频率分布与dbSNP数据库中国北京汉族人群的数据一致，rs33932559位点以T等位基因为主，在雀斑组与对照组中的频率分别为90．09％、91．94％，两组间差异无统计学意义（P〉0．05）。rs2228479位点G等位基因频率和rs2228478位点A等位基因频率均占77％左右，rs885479位点T等位基因频率占60％左右，这3个位点等位基因频率与基因型频率分布在雀斑组与对照组间的差异无统计学意义（P〉0．05）。结论在成都汉族人群中尚未发现MCIR基因单核苷多态性与雀斑发生的相关性。
Objective To assess the association between single nucleotide polymorphisms （SNPs） of melanocortin-1 receptor gene （MC1R） and freckles in Chinese Han population from Chengdu. Methods Twenty randomly selected samples were used to select SNPs of the MC1R gene through DNA sequencing. Pyrosequencing in combination with DNA pooling technique was used to assess allelic frequencies of the selected SNPs in 111 individuals with freckles and 124 normal controls. Representative SNPs were selected based on their functional implications and minimum allele frequency （MAF^0.05）. Genotype of the SNPs were determined with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） or pyrosequencing. Results Based on results of DNA sequencing and pyrosequencing, 4 SNPs （rs2228479, rs885479, rs33932559 and rs2228478） were selected to determine the genotype for each sample. Comparison of genotypic and allelic frequencies of the 4 SNPs with 7.2 test has found no significant difference between the two groups （P〉0.05）. For rs33932559, the frequencies of T allele were respectively 90. 09% and 91.94% for individuals with freckles and normal controls. For rs2228479 and rs2228478, the frequencies of G and A alleles were both about 77%. For rs885479, the frequency of T allele was about 60%. None of the above 3 SNPs showed a significant difference between the two groups in terms of allelic or genotypic frequencies. Conclusion No association between the selected SNPs of MCIR gene has been found with development of freckles for the selected Chinese Han population from Chengdu.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第3期352-356,共5页
Chinese Journal of Medical Genetics
基金
基金项目：高等学校博士学科点专项科研基金（200806101086）
上海法医学重点实验室开放课题（1002）
关键词
黑素皮质素受体1基因
雀斑
单核苷酸多态性
遗传关联研究
Melanocortin-1 receptor gene
Freckles, Single nucleotide polymorphisms
Geneticassociation study
