Abstract: Objective To investigate SNP and distribution of haplotypes in differentially methylated 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 samples from unrelated Chinese Korean individuals and 14 blood samples from 5 Chinese Korean intergenerational families which known genetic relationship were collected. The SNP in DMR upstream of H19 gene were investigated by PCR-cycle sequencing and McrBC digestion followed by PCR. The haplotypes detected by parentally imprinted allele （PIA） method and relevant genetic parameters 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 DMR upstream of H19 gene, with 9 SNPs having high discrimination power as good genetic markers. The average gene diversity （GD） of haplotypes was 0.714. The maternal haplotype was confirmed correctly by PIA method from McrBC-digested products of genomic DNA. Conclusion High polymorphisms exist in DMR upstream of H19 gene in Chinese Korean nationality. And determination of the maternal haplotype could furthermore enhance the forensic identification efficiency of imprinted gene.

Key words: forensic genetics, polymorphism, single nucleotide, DNA methylation, H19 gene, the Korean nationality