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。diASA
Objective 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.
出处
《环境与职业医学》
CAS
北大核心
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 )
