人工修饰双等位基因特异性引物扩增法检测CYP1B1多态性与肺癌易感性的关系  

Detection of Relationship between Polymorphisms of CYP1B1 and Susceptibility to Lung Cancer in Jiangsu Population by di-Allele-Specific-Amplification with Artificially Modified Primers

作　　者：梁戈玉[1] 浦跃朴[1] 尹立红[1] 卜莹[2] 周国华[2] 

机构地区：[1]东南大学公共卫生学院,江苏南京210009 [2]南京军区联勤部军事医学研究所,江苏南京210002

出　　处：《环境与职业医学》2005年第1期4-7,共4页Journal of Environmental and Occupational Medicine

基　　金：国家自然科学基金 (编号 :30 1 70 791 );江苏省社会发展基金(编号 :BS2 0 0 0 0 34) ;江苏省高等学校研究生创新计划资助项目 (编号 :XM0 4 - 70 )

摘　　要：　 [目的 ]应用一种新的快速检测单核苷酸多态性 (SNP)方法———人工修饰双等位基因特异性引物扩增 (di ASA AMP)法研究CYP1B1基因Leu43 2Val位点多态性与江苏汉族人群肺癌易感性的关系。 [方法 ]采用配对病例 对照研究 ,收集江苏汉族人群原发性肺癌患者 2 2 7例为病例组 ,同时按 1∶1配对选择非肿瘤、非呼吸道疾病患者 2 2 7例为对照组。应用diASA AMP方法检测了病例组与对照组CYP1B1基因Leu43 2Val位点多态性 ,分析Leu43 2Val位点突变与肺癌易感性之间的关系。并应用测序法验证diASA AMP法的特异性。 [结果 ]CYP1B1基因Leu43 2Val位点突变C和G的基因频率在对照组和病例组的分布差异无显著性 ( χ2 =0 .2 0 1,P >0 .0 5 ) ,单纯CYP1B1基因Leu43 2Val位点突变与肺癌危险性也不存在明显的相关关系 (OR =1.0 85 ,95 %CI =0 .73 0～ 1.615 ) ,但该位点突变与吸烟可能有一定协同作用 ,携带G等位基因的基因型可增加吸烟者患肺癌的危险性 (OR =2 .0 5 7,95 %CI =1.162～ 3 .64 2 )。对照组的CYP1B1C和G等位基因频率与现有的中国汉族人群资料结果相近 ,测序结果与diASA AMP结果相符。 [结论 ]CYP1B1Leu43 2Val多态性可能是江苏汉族人群吸烟者肺癌发生的易感因素。diASAObjective To rapidly detect the relationship between CYP1B1 gene polymorphism Leu432 Val and lung cancer susceptibility in Jiangsu population by a new single nucleotide polymorphism(SNP) typing approach of di-allele-specific-amplification with artificially modified primer (diASA-AMP) techniques. A case-control study of 227 patients with lung cancer and 227 cancer-free subjects as a control group (matched for age±5 years and sex) was conducted to detect CYP1B1 polymorphism at Leu432 Val locus. Genotypes were analyzed by diASA-AMP techniques. It was shown that there was no difference in C or G allele frequency of CYP1B1 between cases and controls(χ 2=0.201,P>0.05). CYP1B1 Leu432Val variant alone was not observed in the relationship with lung cancer risk(OR=1.085,95%CI=0.730～1.615),but our stratified analysis suggested an interaction between CYP1B1 variant genotype and smoking,the genotype with G allele increased lung cancer risk of smokers(OR=2.057,95%CI=1.162～3.642). G allele frequency of CYP1B1 in the control group was close to other Chinese reports. The sequencing results of CYP1B1 matched with the diASA-AMP result. [Conclusion] CYP1B1Leu432Val polymorphism may be a susceptible factor in the development of lung cancer of smokers. The method diASA-AMP for typing single nucleotide polymorphism(SNP) is of low cost and more effective and without the use of expensive instrument. It can also be used for other SNP detection.

关 键 词：CYP 肺癌 对照组 位点突变 易感性 人工 等位基因 特异性引物 配对 多态性 

分 类 号：R734.2[医药卫生—肿瘤] R737.9[医药卫生—临床医学]