[SNP in differentially methylated region upstream of H19 gene in Chinese Korean nationality].
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.


CONCLUSIONS
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.
School of Forensic Medicine, China Medical University, Shenyang 110001, China. weiwentao0311@163.com
Wen-tao
WT
Wei
School of Forensic Medicine, China Medical University, Shenyang 110001, China.
Xin
X
Wang
School of Forensic Medicine, China Medical University, Shenyang 110001, China.
Dong-mei
DM
Wang
School of Forensic Medicine, China Medical University, Shenyang 110001, China.
Lu-yuan
LY
Tian
School of Forensic Medicine, China Medical University, Shenyang 110001, China.
Bao-jie
BJ
Wang
School of Forensic Medicine, China Medical University, Shenyang 110001, China.
Hao
H
Pang
School of Forensic Medicine, China Medical University, Shenyang 110001, China.
Mei
M
Ding
D044466:Asian People / Q000235:genetics*; D002681:China; D004247:DNA / Q000097:blood / Q000235:genetics; D019175:DNA Methylation; D017931:DNA Primers; D053803:Forensic Genetics / Q000379:methods; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D062085:RNA, Long Noncoding / Q000235:genetics*; D056910:Republic of Korea / Q000208:ethnology; D017422:Sequence Analysis, DNA
D017931:DNA Primers; C094335:H19 long non-coding RNA; D062085:RNA, Long Noncoding; D004247:DNA