Polymorphisms Of 22 STR Loci And Developing A Multiplex Assay With 11 SNPs In Guizhou Han Population

Objective: The aim of this study is to investigate the polymorphism of22 STRs in Guizhou Han population,to observie and analysis the trait of mutation and to evaluate the system efficacy.The single nucleotide polymorphisms(SNPs)that meet requirements for Individual Identification SNPs(IISNPs)are selected in the human genome database.We Combined the single base extension(SBE)reaction and capillary electrophoresis detection technology to develope a SNPs multiplex assay to supplementing for existing STR and SNPs assay.Methods: 1.We used PowerPlex? Fusion kit to analyze 22 autosomal STRs on 2018 unrelated individuals from Guizhu Han population in order to gain their allelic frequencies,forensic parameters,mutation loci and mutation frequencies.2.We selected 20 SNPs that met the criterion of IISNPs.According to gene sequence published,the PCR primers were designed by software Primer 5.0,and SBE primers were used DNAMAN software.3.We constructed a multiplex PCR and a multiplex SNaPshot assay.The fragments were separated using ABI 3500 Series Genetic Analyzer,using 3500 Data Collection V3.0 software to collect data,and genotyped according to GeneMapper ID-X 1.4 software.Finally.4.We used the multiplex assay to analyze 11 autosomal SNPs on 103 unrelated individuals from Guizhu Han population in order to gain their allelic frequencies and forensic parameters.5.We used the SNPs multiplex assay to investigate the genetic relationship of the Family of the second-generation in Guizhou Han population,and analyzed whether they were consistented with the Mendelian inheritance law.6.We applyed the SNPs multiplex assay to analyze a case which STR genotyping was mutation and the cumulative paternity index(CPI)less than 104.And gain CPI.Results: 1.We got the population genetic data of 22 autosomal STR were obtained from 2018 Han population in Guizhou.The frequency distribution of genotype was consistent with Hardy-Weinberg equilibrium.The cumulativediscrimination power(CPD)was 1-2×10-26.The cumulative probability of exclusion(CPE)was 0.999999999,and the cumulative match probability(CMP)was 1.1516×10-26.2.We selected 20 autosomal SNPs and designed PCR and SBE primers.3.We constructing a multiplex assay with 11 SNPs.4.The population genetic data of 11 SNPs were obtained on 103 Guizhou Han populations.5.The genetic relationship of the Family of the second-generation in Guizhou Han population confoemed to Mendelian genetic law.6.When applying the SNPs multiplex assay to analyze a case which STR genotyping was mutation and the cumulative paternity index(CPI)less than 104,confirmed the reliability of the conclusions furtherly.Conclusion: 1.The 22 STR loci in this study have good genetic polymorphisms in Guizhou Han population,and can be used in personal identification and parentage testing.2.We developed a multiplex assay with 11 autosomal SNPs successfully for the existing STR and IISNP assay as a supplement.