新疆柯尔克孜族过氧化物酶体增殖物激活受体基因单核苷酸多态性  

Single nucleotide polymorphism of PPARG genes in Xinjiang Kirgiz people

作　　者：祖克拉·肉孜[1] 宋曼殳[2] 伊力哈木·乃扎木[2] 阿瓦古丽·阿布都克热木 多力坤·买买提玉素甫[1] 

机构地区：[1]新疆大学生命科学与技术学院,乌鲁木齐830046 [2]首都医科大学公共卫生学院,北京100069 [3]新疆维吾尔自治区胸科医院超声科,乌鲁木齐830049

出　　处：《解剖学杂志》2016年第1期80-85,95,共7页Chinese Journal of Anatomy

基　　金：新疆维吾尔自治区自然科学基金(2013211A016)

摘　　要：目的：分析柯尔克孜族健康人群过氧化物酶体增殖物激活受体基因（P只4RG）的31个单核苷酸多态性（SNP）位点的遗传多态性；方法：利用HapMap软件筛选31个SNPs位点，利用质谱检测技术进行多态性检测并根据质谱峰图判读样本目标位点基因型，利用χ^2检验确定筛选的SNP位点是否符合Hardy-Weinberg平衡定律并分析柯尔克孜族与其他民族间基因型和等位基因频率差异。结果：在31个SNP位点中，23个位点的最小等位基因频率MAF≥0．05具有多态性；在23个SNPs中rs1175540、rs17036242、rs2881654、rs2959273、rs2972162、rs4135275、rs709151、rs9310401、rs1801282位点在柯尔克孜族和维吾尔族人群间基因型和等位基因分布频率差异均有统计学意义；rs2292101、rs3856806、rs7626560位点在柯尔克孜族和北京汉族人群、犹他州居民、伊巴丹尼日利亚人群间基因型频率差异有统计学意义；rs3856806、rs4135275、rs6782475、rs7626560位点在柯尔克孜族和北京汉族人群、犹他州居民、伊巴丹尼日利亚人群间等位基因频率差异有统计学意义。结论：PPARG基因23个SNP位点多态性在新疆柯尔克孜人群和不同种族问差异具有统计学意义，这种差异可能是导致某些疾病在不同种族问的发现率和临床表现存在显著不同的因素之一。Objective： To get the data of genotype and allele frequencies of 31 SNP loci in PPARG gene of Xinjiang Kirgiz people. Methods： Hap Map software was used to screen SNPs of PPARG gene; SNPs genotyping was performed by （MALDI-TOF-MS） platform and Mass ARRAY technology and statistic analysis was used to analyze the genotype and allele frequency. Results： There were significant differences in genotypes and allele frequency distribution of SNPs rs1175540, rs17036242, rs2881654, rs2959273, rs2972162, rs4135275, rs709151, rs9310401, rs1801282 between Kirgiz and Uyghur, as well as differences in genotypes frequency distribution of SNPs rs2292101, rs3856806, rs7626560 between Kirgiz and CHB, CEU, YRI. And differences in allele frequency distribution of SNPs rs3856806, rs4135275, rs6782475, rs7626560 between Kirgiz and CHB, CEU, YRI. Conclusion： Statistically significant differences were found in the polymorphism of 23 SNPs of PPARG genes in Xinjiang Kirgiz and different groups. This difference may explain the different detection rate and clinical manifestations of certain diseases in different ethnic groups.

关 键 词：过氧化物酶体增殖物激活受体基因 单核苷酸多态性 柯尔克孜族 新疆 

分 类 号：R394[医药卫生—医学遗传学]