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

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.