肺癌患者hPARP-1基因突变PCR-SSCP检测  

Detection of hPARP-1 gene mutations in lung cancer population by PCRSSCP

作　　者：梁海荣[1] 唐焕文[1] 胡大林[2] 庄志雄[3] 

机构地区：[1]广东医学院预防医学教研室,湛江524023 [2]中山大学公共卫生学院 [3]深圳市疾病预防控制中心

出　　处：《中国公共卫生》2006年第12期1409-1410,共2页Chinese Journal of Public Health

基　　金：国家自然科学基金(30571592);广东医学院博士启动基金(XB0402);广东医学院面上项目(XK0407)

摘　　要：目的用聚合酶链反应-单链构象多态性(PCR-SSCP)技术研究肺癌患者聚腺苷二磷酸核糖聚合酶-1(hPARP-1)基因突变情况,寻找与肺癌发生相关的分子标记物。方法收集广东地区220名健康人群和106例肺癌病人的基础资料及血液标本,常规酚-氯法抽提血液DAN,用PCR单链构象多态性(SSCP)法检测hPARP-1基因第13,17和20外显子突变情况,并进行DNA序列分析。结果检测出5例肺癌病人在hPARP-1基因第17外显子有杂合性突变,为CAC→CGC的错义突变,即组氨酸→精氨酸。hPARP-1基因其余2个外显子未发现突变。结论PCR-SSCP是筛检基因突变的1种快速有效的方法,hPARP-1基因第17外显子上的突变可能是与肺癌发生相关的1种分子标记物。Objective To detect hPARP- 1 gene mutations in lung cancer population by PCR - SSCP and to find molecular biomarkers of tumor. Methods The basic dada and blood samples from 106 lung cancer patients were collected. The genetic mutations of the exon 13, 17 and exon 20 of hPARP- 1 gene were investigated by PCR - SSCP, followed by DNA sequencing. Results The PCR - SSCP method made it possible to detect hPARP - 1 gene mutations more quickly and more economically. Five samples of exon 17 mutation was detected in the cancer population. The mutation was His→Arg mutation. No mutation of exon 13 and 20 was detected by SSCP. Conclusion The PCR - SSCP method is effective in detecting genetic mutations. There is a mutation site in the seventh exon of hPARP - 1 gene. It is probably a biomarker of gynecologic tumor.

关 键 词：肺癌 聚腺苷二磷酸核糖聚合酶-1 聚合酶链反应-单链构象多态性 

分 类 号：R734[医药卫生—肿瘤]