论文部分内容阅读
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 genotype frequency of CYP1A1 MspⅠ, I462V, GSTM and GSTT in female population of South China. Methods A total of 1355 pregnant women and mothers who gave birth in Shenzhen Maternal and Child Health Hospital and Foshan Maternal and Child Health Hospital from 2008 to 2011 were selected as the research objects. Genomic DNA was genotyped by PCR-RFLP. The genotypes of the population were compared. Results The frequencies of MspⅠT and C alleles were 61.2% and 38.8% in South China women. The frequency of A and T alleles in I462V locus was 71% and 29%, respectively. All of them met the Hardy-Weinberg equilibrium. The frequencies of CYP1A1MspⅠ TT, TC, CC The genotypes of genotypes were 39.4%, 43.5% and 17.1%. The genotype distributions of AA, AG and GG at I462V locus were 52.2% and 37.6%, respectively. The prevalence of GSTM was 50.3% and 49.7% 49.5% of GSTT exist, and 50.5% of missing type. There were 121 high-risk individuals with MspⅠand I462V homozygous mutations combined with GSTM and GSTT deletion, accounting for 8.93% of the surveyed population. Conclusion The MspⅠ locus and the I462V locus of CYP1A1 have high mutation frequencies in southern Chinese women. GSTM and GSTT genes have a high deletion rate in southern Chinese women. MspⅠ, I462V site homozygous mutation combined with GSTM, GSTT deletion type of high-risk lung cancer patients in southern China accounted for a larger proportion of female population. CYP1A1 Msp Ⅰ site, I462V site, GSTM, GSTT genotype distribution may exist regional and ethnic differences.