聚腺苷二磷酸核糖聚合酶-1多态性的检测  

Determination of PARP-1 gene polymorphisms with PCR-SSCP silver dying

作　　者：唐焕文[1] 庄志雄[2] 梁海荣 李荣成[4] 何云[1] 农艺[4] 黄月葵[4] 

机构地区：[1]中山大学公共卫生学院卫生毒理学教研室,广州510080 [2]深圳市疾病预防控制中心 [3]广西桂林市灌阳县卫生防疫站 [4]广西壮族自治区疾病预防控制中心

出　　处：《中国公共卫生》2003年第10期1166-1168,共3页Chinese Journal of Public Health

基　　金：国家 973计划资助课题 ( 2 0 0 2CB51 2 90 4 )

摘　　要：目的　检测人类聚腺苷二磷酸核糖聚合酶 -1(PARP -1) 5个外显子核苷酸多态性。方法　采用聚合酶链式反应 (PCR) -单链构象多态性 (SSCP)和银染技术检测 3个民族 63 4名正常人PARP -1基因多态性。结果　在3个民族 63 4名正常人血标本的 5个外显子扩增产物SSCP电泳条带中 ,2 19名汉族人PARP -1基因 5个外显子均未检出多态性条带 ;2 0 3名布依族和 2 12名壮族人PARP -1基因的 5个外显子扩增产物中分别有 2例的外显子 2 0的SSCP电泳条带检出 1条多态性条带 ,其余 4个外显子扩增产物SSCP电泳未见多态性条带。结论　PARP -1基因第2 0外显子上可能存在多态性。PCR -SSCP银染技术具有简便、高效、快速、重现性好等优点 ,是对大样本进行PARP-1基因突变筛检的一种有效的方法 。Objective To investigate nucleotide polymorphisms of five exons in human poly(ADP-ribose)polymerase-1(PARP-1) gene. Methods PCR-SSCP silver staining was used to test the pol ymoephisms of PARP-1 gene in 634 chinese Han,Buyi and Zhuangzu people (219,203 a nd 212 separatively). Results Polymorphisms of 5 exons of PARP-1 gene was not d etected in 219 Han people and a polymorphisms of exon20 of PARP-1 gene was detec ted in 203 Buyi and 212 Zhuangzu people by PCR-SSCP,Other exons were not detecte d. Conclusion Polymorphisms may exist in exon20 of PARP-1 ge ne.PCR-SSCP silver staining had the advantages of simplicity,efficiency,speed an d reproducibility.It has excellent potential as a tool to screen rapidly the pol ymorphisms PARP-1 gene and could be incorporated into molecular epidemiology stu dy.

关 键 词：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 单核苷酸多态 

分 类 号：R113[医药卫生—公共卫生与预防医学]