SNP in Differentially Methylated Region Upstream of H19 Gene in Guangdong Han Population
Author(s): MA Xiaoyan, HE Wenzhi, YUAN Tianli, ZUO Jiajia, WANG Xiaoman, LI Shaoying, LIU Haibo, LI Qing
Pages: 184-188
Year: 2016 Issue: 3
Journal: Journal of Forensic Medicine
Keyword: forensic genetics; polymorphism; single nucleotide; DNA methylation; H19 gene; Han na-tionality; Guangdong;
Abstract: Objective To investigate the single nucleotide polymorphism(SNP)and haplotypes in differen-tially methylated region(DMR)upstream of H19 gene in Guangdong Han population.Methods The PIA typing and restriction enzyme McrBC and Hpa Ⅱ were used to digest the genomic DNA and obtain the individual uniparental DNA template strand. The data of uniparental SNP alleles, genotypes and haplotypes in DMR upstream of H19 gene were obtained by sequencing.Results A total of 13 SNPs(rs10840167, rs2525883, rs12417375, rs4930101, rs2525882, rs2735970, rs2735971, rs11042170, rs2735972, rs10732516, rs2071094, rs2107425, and rs4930098)and one mutation locus(g7351c)were found. All loci followed the Hardy-Weinberg equilibrium(P>0.05)by statistical analysis. Except for rs12417375(DP=0.279)locus, the DP of remaining 12 SNPs were 0.446-0.614, and the g7351c mutation locus(DP=0.013)was the particular loci of the Southern Chinese Han population. Eight haplotypes(designated as haplotype 1-8) were detected, in which 3 haplotypes had not yet been reported and the DP, PIC, PE and H were 0.891, 0.714, 0.524 and 0.758, respectively.Conclusion Obtained by PIA typing, the SNP in DMR upstream of H19 gene and its haplotypes genetic marker system have a high determination power and show a good practical value in forensic identification.
Pages: 184-188
Year: 2016 Issue: 3
Journal: Journal of Forensic Medicine
Keyword: forensic genetics; polymorphism; single nucleotide; DNA methylation; H19 gene; Han na-tionality; Guangdong;
Abstract: Objective To investigate the single nucleotide polymorphism(SNP)and haplotypes in differen-tially methylated region(DMR)upstream of H19 gene in Guangdong Han population.Methods The PIA typing and restriction enzyme McrBC and Hpa Ⅱ were used to digest the genomic DNA and obtain the individual uniparental DNA template strand. The data of uniparental SNP alleles, genotypes and haplotypes in DMR upstream of H19 gene were obtained by sequencing.Results A total of 13 SNPs(rs10840167, rs2525883, rs12417375, rs4930101, rs2525882, rs2735970, rs2735971, rs11042170, rs2735972, rs10732516, rs2071094, rs2107425, and rs4930098)and one mutation locus(g7351c)were found. All loci followed the Hardy-Weinberg equilibrium(P>0.05)by statistical analysis. Except for rs12417375(DP=0.279)locus, the DP of remaining 12 SNPs were 0.446-0.614, and the g7351c mutation locus(DP=0.013)was the particular loci of the Southern Chinese Han population. Eight haplotypes(designated as haplotype 1-8) were detected, in which 3 haplotypes had not yet been reported and the DP, PIC, PE and H were 0.891, 0.714, 0.524 and 0.758, respectively.Conclusion Obtained by PIA typing, the SNP in DMR upstream of H19 gene and its haplotypes genetic marker system have a high determination power and show a good practical value in forensic identification.
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