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目的检测人类聚腺苷二磷酸核糖聚合酶1[poly(ADP-ribose)polymerase1,PARP1]基因的基因型和基因频率在中国南方汉族和苗族人群中的分布。方法收集187名中国南方汉族和210名苗族人的血液DNA,用PCR法扩增hPARP1基因4个外显子,并进行单链构象多态性分析。结果用PCR成功扩增出第12、13、16、17外显子,片段长度分别为253bp、313bp、175bp、362bp,在187名中国南方汉族和210名苗族人群中,分别有3人和9人检测出hPARP1基因第12、13、16和17外显子上各有1种基因突变,分别为Phe548Ser、Ala683Ser、Asp798Tyr、His808Arg。结论中国南方汉族和苗族人群中hPARP1基因第12、13、16和17外显子上存在突变型等位基因。
Objective To detect the distribution of genotypes and gene frequencies of poly (ADP-ribose) polymerase1, PARP1 gene in Han and Miao populations in Southern China. Methods Blood DNA of 187 Han and 210 Miao people in southern China were collected. Four exons of hPARP1 gene were amplified by PCR, and the single-strand conformation polymorphism was analyzed. Results The 12th, 13th, 16th and 17th exons were successfully amplified by PCR. The lengths of the exons were 253bp, 313bp, 175bp and 362bp, respectively. Of the 187 Han and 210 Hmong populations in South China, 3 and 9 One gene mutation was detected in exon 12, 13, 16 and 17 of hPARP1 gene, which were Phe548Ser, Ala683Ser, Asp798Tyr and His808Arg, respectively. Conclusion There are mutant alleles on exon 12, 13, 16 and 17 of hPARP1 gene in Chinese Han and Miao populations in South China.