华南女性人群CYP1A1、GSTM、GSTT基因型频率调查  

Investigation of the genotype frequency of CYP1A1 MspⅠ,I462V and GSTM,GSTT in southern China female population

作　　者：谢传波[1] 丁鹏[1] 刘涛[1] 何艳辉[1] 林建苗[2] 郭晓玲[3] 陈维清[1] 

机构地区：[1]中山大学公共卫生学院,广东广州518000 [2]深圳市妇幼保健院,广东深圳518000 [3]佛山市妇幼保健院,广东佛山528000

出　　处：《中国热带医学》2012年第12期1433-1438,共6页China Tropical Medicine

基　　金：国家自然科学基金(No.30872164)

摘　　要：目的调查华南女性人群CYP1A1 MspⅠ位点、I462V位点及GSTM、GSTT的基因型频率。方法选择2008-2011年间在深圳市妇幼保健院、佛山市妇幼保健院分娩的1355例孕产妇为研究对象,采用PCR-RFLP法对所得基因组DNA进行基因分型,以SPSS13.0对具有不同特征的人群的基因型构成进行比较。结果华南女性人群MspⅠT、C等位基因频率为61.2%、38.8%,I462V位点A、T等位基因频率为71%、29%,均满足Hardy-Weinberg平衡,CYP1A1MspⅠ位点TT、TC、CC基因型分布为39.4%、43.5%、17.1%,I462V位点AA、AG、GG基因型分布为52.2%、37.6%10.2%,Ⅱ相代谢酶基因GSTM存在型占50.3%,缺失型占49.7%,GSTT存在型占49.5%,缺失型占50.5%。MspⅠ位点、I462V位点纯合突变联合GSTM、GSTT缺失型的肺癌高风险个体有121人,占调查人群的8.93%。结论 CYP1A1 MspⅠ位点、I462V位点在华南女性人群中具有较高突变频率,GSTM、GSTT基因在华南女性人群中具有很高的缺失率。MspⅠ位点、I462V位点纯合突变联合GSTM、GSTT缺失型的肺癌高风险人群在华南女性人群中所占比重较大。CYP1A1 MspⅠ位点、I462V位点、GSTM、GSTT的基因型分布可能存在地区及种族差异。Objective To investigate the lung cancer susceptibility biomarker CYPIA1 Msp I, I462V and GSTM, GSTT genotype frequency in southern China female population. Methods The 1355 pregnant women given birth to their babies in Shenzhen Maternal and Child Care Hospital and Foshan maternal and Child Care Hospital between 2008 to 2011 were selected and investigated. PCR-RFLP were used to distinguish the genotype. Results The alleles frequency of Msp I （T,C） in southern China female population were 61.2%, 38.8%, I462V were 71%, 29% and all the two SNPs met Hardy-Weinberg equilibrium. The distribution frequencies of TT, TC, CC genotype of CYP1A1 Msp I were 39.4%,43.5%,17.1%, and the genotype frequencies of I462V AA,AG,GG were 52.2%, 37.6% ,10.2%. The non-deletion genotype frequencies of GSTM, GSTF （Phase 1I metabolic enzymes）were 50.3% and 49.5%, the deletion genotype was 49.7% and 50.5% respectively. Conclusion In south China female population CYP1A1 Msp I and I462V mutant genotype frequency is high. The deletion rate of GSTM, GSTT is also high in this population. According to the frequency, individuals with high-risk lung cancer population （Msp I , I462V Homozygous and GSTM, GSTT deletion） in Chinese women population accounts for a large proportion.

关 键 词：CYP1A1 GSTM GSTT 基因型 频率 

分 类 号：R394.3[医药卫生—医学遗传学]