SNP in Differentially Methylated Region Upstream of H19 Gene in Chinese Kore-an Nationality / 法医学杂志

ABSTRACT

Objective To investigate SNP and distribution of haplotypes in differentially m ethylated region (DMR) upstream of H19 gene in Chinese Korean nationality in order to provide basic data for forensic application and population genetics research. Methods One hundred and one blood sam ples from unrelat-ed Chinese Korean individuals and 14 blood sam ples from 5 Chinese Korean intergenerational fam ilies which known genetic relationship were collected. The SNP in DMRupstream of H19 gene were investi-gated by PCR-cycle sequencing and McrB Cdigestion followed by PCR . The haplotypes detected by parentally im printed allele (PIA) m ethod and relevant genetic param eters were calculated. Results Thirteen SNPs (rs10840167, rs2525883, rs12417375, rs4930101, rs2525882, rs2735970, rs2735971, rs11042170, rs2735972, rs10732516, rs2071094, rs2107425, and rs4930098) and five haplotypes were detected in 1 174 bp target product in DMRupstream of H19 gene, with 9 SNPs having high discrim ination power as good genetic markers. The average gene diversity (GD) of haplotypes was 0.714. The maternal haplotype was confirm ed correctly by PIAm ethod from McrB C-digested products of genom ic DNA. Conclusion High polym orphism sexist in DMRupstream of H19 gene in Chinese Korean nationality. And determ ination of the maternal haplotype could furtherm ore enhance the forensic identification efficiency of im printed gene.