汉族人群聚腺苷二磷酸核糖聚合酶-1遗传多态性的检测

Determination of DNA repair protein hPARP-1 genetic polymorphism in Han population

目的:通过检测人聚腺苷二磷酸核糖聚合酶-1(hPARP-1)7个外显子核苷酸多态性,了解在广东的汉族人群中hPARP-1基因多态性分布,为建立民族特色的DNA修复基因多态性数据提供基础资料。方法:选取在广东地区的汉族健康人群320名的基础资料及血液样本,抽提血液DNA,用PCR法扩增hPARP-1基因7个外显子,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hPARP-1基因多态性,并进行DNA序列测定。结果:在广东的汉族正常人320名血标本的7个外显子扩增产物SSCP电泳条带中,4个样本hPARP-1基因外显子17的SSCP电泳条带检出1条多态性条带,3个样本第12内含子检出1条多态性条带,其余6个外显子扩增产物SSCP电泳未见多态性条带。正常带型DNA测序结果与genebank中已知序列完全一致,第17外显子上有1种基因突变类型(T→C)。结论:在广东地区的汉族人群的hPARP-1基因第17外显子和第12内含子上可能存在多态性。

Objective： To investigate the nucleotide polymorphisms and distributions of seven exons in human poly （ADP-rihose） polymerase-1 （PARP-1） gene and to contribute to the construction of the special DNA repair gene polymorphisms databank. Methods： The basic materials and blood samples from 320 Guangdong health Han population were collected. The polymorphlsm of exon 3,11,12,13,16,17 and exon 20 of hPARP-1 gene were detected by PCR-SSCP, and sequencing test were performed. Results： A polymorphisms of exon 20 of PARP-1 gene was detected in 320 Han people by PCR SSCP, no abnormal bands were observed from the analysis of PCR-SSCP in other exons. Also, DNA sequence of normal bands turned out that PCR products were target ones in Genebank, one type mutations （T→C） and （G→A）were detected in exon 17 and in intron 12. Conclusionz Polymorphisms may exist in exon 17 and intron 12 of hPARP-1 gene in Guangdong Han population. PCR-SSCP silver staining could be as a tool to screen rapidly the polymorphisms hPARP-1 gene.