苷二磷酸核_

汉族人群聚腺苷二磷酸核糖聚合酶1遗传多态性的检测

http://www.100md.com 《广东药学院学报》 2006年第2期

苷二磷酸核,,聚腺苷二磷酸核糖聚合酶-1；遗传多态性；聚合酶链反应,1方法,2结果,参考文献：

     【摘要】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。

    【关键词】聚腺苷二磷酸核糖聚合酶-1；遗传多态性；聚合酶链反应

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

    LIANG Hairong, TANG Huanwen, HU Dalin, ZHUANG Zhixiong

    (Department of Preventive Medicine, Guangdong Medical College, Zhanjiang 524023,China)

    【Abstract】 Objective: To investigate the nucleotide polymorphisms and distributions of seven exons in human poly (ADPribose) 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 polymorphism 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. Conclusion: 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. ......

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