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

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.