The Selection, Verification And Forensic Application Of Imprinted SNP In Chinese Han Population

Purpose:The purpose of this subject aimed at full use of the human genome imprinting gene mapping and the international human genome single-type diagram (Hapmap), the Chinese genetic background of the genome polymorphism and other large genome plans of the latest research achievements, the preliminary screening in the Chinese Han population hasgood frequency distribution of genetic markers of pro-source-specific methylation imprint of SNP loci; to establish the methylation-sensitive restriction enzyme combination of single base extension technology, verify the source of the parental imprint of SNP allele; and established authenticationgenetic markers of pro-source-specific methylation imprint SNP application study of forensic identification and paternity identification.Methed:Initial screening of candidate imprinted genes from the imprinted gene map of human genome, single nucleotide polymorphism (SNP) data obtained in Hapmap database, selected imprinted gene SNP analysis by Haploview analysis software to filter out the agreement with the experimentalrequirements of11SNP loci (IGF2AS rs1003483, SNURF rs220028, rs4906939DLGAP2rs6558478rs11748PKP3CHMP2A rs873104, COL9A3rs760087, SIM2rs737380, TP73rs3765730, SOX8rs9931183, rs11139063APBA1); optimization of amplification conditions restrictions were8SNPs (IGF2AS rs1003483, SNURF rs220028, rs6558478rs4906939DLGAP2PKP3rs11748, rs873104CHMP2ACOL9A3rs760087, a SIM2rs737380) compound was amplified using the multiplex amplification Snapshot micro-sequencing detected10cases of pedigree (STR testing confirmed paternityrelations) sample8SNP allele typing; use methylation-sensitive restriction enzyme combination of single base extension technology demonstrator to mark the three SNPs (the SNP IGF2AS rs1003483, the SNURF rs220028, rs4906939) allele of the parental generation sources; screenedimprinting of genes differentially methylated source of parental-specific imprint of SNP application in forensic medicine studies.Resit:Initial screening of candidate imprinted genes from the imprinted gene map of huma ngenome, single nucleotide polymorphism (SNP) data obtained in Hapmap database, selected im printed gene SNP analysis by Haploview analysis software to filter out the agreement with the ex perimentalrequirements of11SNP loci (IGF2AS rs1003483, SNURF rs220028, rs4906939DLG AP2rs6558478rs11748PKP3CHMP2A rs873104, COL9A3rs760087, SIM2rs737380, TP73r S3765730, SOX8rs9931183, rs11139063APBA1); optimization of amplification conditions restr ictions were8SNPs (IGF2AS rs1003483, SNURF rs220028, rs6558478rs4906939DLGAP2PK P3rs11748, rs873104CHMP2A COL9A3rs760087, a SIM2rs737380) compound was amplifie d using the multiplex amplification Snapshot micro-sequencing detected10cases of pedigree (S TR testing confirmed paternityrelations) sample8SNP allele typing; use methylation-sensitive r estriction enzyme combination of single base extension technology demonstrator to mark the thr ee SNPs (the SNP IGF2AS rs1003483, the SNURF rs220028, rs4906939) allele of the parental g eneration sources; screenedimprinting of genes differentially methylated source of parental-speci fic imprint of SNP application in forensic medicine studies.Conclusion:Methylation-sensitive restriction enzyme digestion, PCR and single nucleotide primer extension technology (Snapshot) is a simple and efficient DNA methylation markers and single nucleotide detection techniques may be a composite detection of single nucleotide polymorphismsstate typing at the same time to determine the parental source of alleles; IGF2AS the SNP rs1003483, the SNURF the SNP rs220028and SNURF SNP rs4906939with the forensic value of the mark of the SNP.