【摘要】：目的探討O6-甲基鳥嘌呤-DNA-甲基轉(zhuǎn)移酶(MGMT)基因遺傳多態(tài)性位點(diǎn)在廣東省高本底地區(qū)(HBRA)漢族人群中的分布特征。方法采用單純隨機(jī)抽樣方法,選擇60名廣東省HBRA漢族人群,獲取其周圍血基因組DNA,通過聚合酶鏈?zhǔn)椒磻?yīng)(PCR)擴(kuò)增獲得MGMT基因5'側(cè)翼區(qū)和第一編碼區(qū)目的片段產(chǎn)物后純化直接測序,篩選并確證潛在的單核苷酸多態(tài)性(SNP)位點(diǎn),對SNP位點(diǎn)進(jìn)行遺傳特征分析,并與人類基因組單體型圖(Hap Map)數(shù)據(jù)庫中的不同人群分布數(shù)據(jù)進(jìn)行比較。結(jié)果 PCR擴(kuò)增和成功測序60名HBRA漢族人群(120條染色體)MGMT基因-875 nt~+362 nt的目的片段,序列比對發(fā)現(xiàn)該人群中6個(gè)已知SNP位點(diǎn)-797 GA、-245 TG、-177 TG、-19 CT、+73 CT和+336 GA,其最小等位基因頻率分別為11.7%、0.8%、2.5%、15.8%、15.8%和29.2%。其中+336 GA的等位基因頻率在該人群的分布與Hap Map數(shù)據(jù)庫中Hap Map-JPT和Hap MapCEU人種/人群的分布差異有統(tǒng)計(jì)學(xué)意義(P0.05)。結(jié)論篩選出廣東省HBRA漢族人群中MGMT基因5'側(cè)翼區(qū)和第一編碼區(qū)共6個(gè)SNP位點(diǎn)并提供其等位基因分布特征數(shù)據(jù),為后續(xù)DNA多態(tài)性功能分析提供基礎(chǔ)。
[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.
【作者單位】： 廣東省職業(yè)病防治院廣東省職業(yè)病防治重點(diǎn)實(shí)驗(yàn)室;中山大學(xué)附屬第三醫(yī)院;
【基金】：國家自然科學(xué)基金(81302387) 廣東省職業(yè)病防治重點(diǎn)實(shí)驗(yàn)室(2012A061400007) 廣東省醫(yī)學(xué)科研基金(B2013022)
【分類號】：R144
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本文編號：2271976