广东省高本底地区汉族人群MGMT基因遗传多态性分布
发布时间：2018-10-15 08:38
【摘要】：目的探讨O6-甲基鸟嘌呤-DNA-甲基转移酶(MGMT)基因遗传多态性位点在广东省高本底地区(HBRA)汉族人群中的分布特征。方法采用单纯随机抽样方法,选择60名广东省HBRA汉族人群,获取其周围血基因组DNA,通过聚合酶链式反应(PCR)扩增获得MGMT基因5'侧翼区和第一编码区目的片段产物后纯化直接测序,筛选并确证潜在的单核苷酸多态性(SNP)位点,对SNP位点进行遗传特征分析,并与人类基因组单体型图(Hap Map)数据库中的不同人群分布数据进行比较。结果 PCR扩增和成功测序60名HBRA汉族人群(120条染色体)MGMT基因-875 nt~+362 nt的目的片段,序列比对发现该人群中6个已知SNP位点-797 GA、-245 TG、-177 TG、-19 CT、+73 CT和+336 GA,其最小等位基因频率分别为11.7%、0.8%、2.5%、15.8%、15.8%和29.2%。其中+336 GA的等位基因频率在该人群的分布与Hap Map数据库中Hap Map-JPT和Hap MapCEU人种/人群的分布差异有统计学意义(P0.05)。结论筛选出广东省HBRA汉族人群中MGMT基因5'侧翼区和第一编码区共6个SNP位点并提供其等位基因分布特征数据,为后续DNA多态性功能分析提供基础。
[Abstract]:Objective to investigate the distribution of O6-methylguanine DNA- methyltransferase (MGMT) gene polymorphism in (HBRA) Han population in Guangdong Province. Methods 60 HBRA Han population in Guangdong Province were selected by random sampling, and their peripheral blood genomic DNA, was amplified by polymerase chain reaction (PCR). The 5'flanking region and the first coding region of MGMT gene were purified and sequenced. The potential single nucleotide polymorphism (SNP) loci were screened and confirmed. The genetic characteristics of SNP loci were analyzed and compared with different population distribution data in the (Hap Map) database of human genome haplotype map. Results the target fragment of MGMT gene-875 nt~ 362 nt was amplified by PCR and sequenced successfully in 60 HBRA Han population (120 chromosomes). The minimum alleles frequencies of 6 known SNP loci-797 GA,-245 TG,-177 TG,-19 CT, 73 CT and 336 GA, were found to be 11.70.0.2.5 and 29.2cm, respectively. The allele frequency of 336 GA in this population was significantly different from that of Hap Map-JPT and Hap MapCEU in Hap Map database (P0.05). Conclusion six SNP loci of the 5'flanking region and the first coding region of the MGMT gene were screened from the Han population of HBRA in Guangdong Province and their allelic distribution data were provided, which provided the basis for the subsequent analysis of the function of DNA polymorphism.
【作者单位】： 广东省职业病防治院广东省职业病防治重点实验室;中山大学附属第三医院;
【基金】：国家自然科学基金(81302387) 广东省职业病防治重点实验室(2012A061400007) 广东省医学科研基金(B2013022)
【分类号】：R144
，
本文编号：2271976
[Abstract]:Objective to investigate the distribution of O6-methylguanine DNA- methyltransferase (MGMT) gene polymorphism in (HBRA) Han population in Guangdong Province. Methods 60 HBRA Han population in Guangdong Province were selected by random sampling, and their peripheral blood genomic DNA, was amplified by polymerase chain reaction (PCR). The 5'flanking region and the first coding region of MGMT gene were purified and sequenced. The potential single nucleotide polymorphism (SNP) loci were screened and confirmed. The genetic characteristics of SNP loci were analyzed and compared with different population distribution data in the (Hap Map) database of human genome haplotype map. Results the target fragment of MGMT gene-875 nt~ 362 nt was amplified by PCR and sequenced successfully in 60 HBRA Han population (120 chromosomes). The minimum alleles frequencies of 6 known SNP loci-797 GA,-245 TG,-177 TG,-19 CT, 73 CT and 336 GA, were found to be 11.70.0.2.5 and 29.2cm, respectively. The allele frequency of 336 GA in this population was significantly different from that of Hap Map-JPT and Hap MapCEU in Hap Map database (P0.05). Conclusion six SNP loci of the 5'flanking region and the first coding region of the MGMT gene were screened from the Han population of HBRA in Guangdong Province and their allelic distribution data were provided, which provided the basis for the subsequent analysis of the function of DNA polymorphism.
【作者单位】： 广东省职业病防治院广东省职业病防治重点实验室;中山大学附属第三医院;
【基金】：国家自然科学基金(81302387) 广东省职业病防治重点实验室(2012A061400007) 广东省医学科研基金(B2013022)
【分类号】：R144
，
本文编号：2271976
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