With the characteristics of low mutation rate,length variation and short amplicon size,insertion/deletion polymorphisms(InDels)have the advantages of both short tandem repeats(STRs)and single nucleotide polymorphisms(...With the characteristics of low mutation rate,length variation and short amplicon size,insertion/deletion polymorphisms(InDels)have the advantages of both short tandem repeats(STRs)and single nucleotide polymorphisms(SNPs).Herein,people of two ethnicities from Hainan Island were genotyped for the first time using the Investigator DIPplex kit.We investigated the forensic parameters of the 30 InDels and the phylogenetic relationships among different populations.The accumulated powers of discrimination and powers of exclusion were 0.9999999999646 and 0.9897 in the Hainan Han population and 0.9999999999292 and 0.9861 in the Hainan Li population,respectively.Additionally,population comparisons among geographically,ethnically and linguistically diverse populations via cluster heatmap,multidimensional scaling,principal component analysis,phylogenetic tree and STRUCTURE analyses demonstrated that the Hainan Han population had genetic similarities to the other Han,She and Tujia populations,while the Hainan Li population had close genetic relationships to the Zhuang and Miao groups;both populations had a high degree of genetic differentiation from most Turkic-speaking populations.Aforementioned results suggested that the 30 autosomal InDels are highly polymorphic and informative,which are suitable for human identification and population genetics.展开更多
We investigated the forensic efficacy of the 30 insertion/deletion(Indel)markers included in the Qiagen Investigator■DIPplex kit in 529 Pakistani individuals from five major subpopulations in Pakistan(Punjabi,Pashtun...We investigated the forensic efficacy of the 30 insertion/deletion(Indel)markers included in the Qiagen Investigator■DIPplex kit in 529 Pakistani individuals from five major subpopulations in Pakistan(Punjabi,Pashtun,Sindhi,Saraiki,and Baloch).In the Sindhi population,the distribution of HLD81 and HLD97 alleles deviated from Hardy-Weinberg equilibrium after Bonferroni correction.The combined match probability ranged from 2.0E-12(Pashtun and Baloch)to 1.0E-12(Sindhi),and the mean paternity exclusion power varied from 0.995(Punjabi,Sindhi,and Saraiki)to 0.996(Pashtun and Baloch).The high combined power of discrimination(0.99999999999997)and low combined match probability(1.7E-12)for all subpopulations studied support the utility of the 30 Indel markers for forensic identification in the studied subpopulations.The allele frequencies of the Indel markers in the Pakistani subpopulations were compared with those from 18 other populations.The results show that the populations clustered according to geography.The subpopulations investigated in this work showed a close genetic relationship with others from Pakistan,as well as with South Central Asian and Middle Eastern populations.The results suggest that the Investigator■DIPplex kit can be useful as a supplementary tool for human identification in the five Pakistani subpopulations investigated in this study.展开更多
For comprehensive understanding of practical application and evaluation on the power of30 commonly used InDeis(Qiagen Investigator DIPplex®kit),we captured population data from 25 Chinese populations and employed...For comprehensive understanding of practical application and evaluation on the power of30 commonly used InDeis(Qiagen Investigator DIPplex®kit),we captured population data from 25 Chinese populations and employed F-statistics for population genetics analysis.The results indicated that the distributions of allelic frequencies among populations were in different levels.Furthermore,the phylogeny confoiming pairwise FST distances showed that the difierentiation of majority populations were consistent with their geographic locations and historic dispersals.We conduct the comprehensive correlation analysis between FST and heterozygosity of30 InDel loci and provided strong evidence for ongoing InDei loci selection.The Fst values of 30 InDels were calculated within 25 Chinese populations,and then,these loci were characterized definitely based on their roles in population genetics or individual identification.Data indicated that 17 InDels with FST<0.01 could be utilized regarding Chinese individual identification(total discrimination power=0.999985 and cumulative matching probability=0.00000009).We comprehensively reconstructed the population structure and filled the gap of evaluating the ability of InDels in personal as well as population identification.The application of InDel loci in the forensic area would convincingly promote the development matter of forensic population identification and personal discrimination.展开更多
基金This work was supported by the National Natural Science Foundation of China[grant numbers 81571854 and 81871532]the Open Project of Key Laboratory of Forensic Genetics in Ministry of Public Security[grant number 2017FGKFKT01]the Fundamental Research Funds for the Central University[grant number YJ201651].
文摘With the characteristics of low mutation rate,length variation and short amplicon size,insertion/deletion polymorphisms(InDels)have the advantages of both short tandem repeats(STRs)and single nucleotide polymorphisms(SNPs).Herein,people of two ethnicities from Hainan Island were genotyped for the first time using the Investigator DIPplex kit.We investigated the forensic parameters of the 30 InDels and the phylogenetic relationships among different populations.The accumulated powers of discrimination and powers of exclusion were 0.9999999999646 and 0.9897 in the Hainan Han population and 0.9999999999292 and 0.9861 in the Hainan Li population,respectively.Additionally,population comparisons among geographically,ethnically and linguistically diverse populations via cluster heatmap,multidimensional scaling,principal component analysis,phylogenetic tree and STRUCTURE analyses demonstrated that the Hainan Han population had genetic similarities to the other Han,She and Tujia populations,while the Hainan Li population had close genetic relationships to the Zhuang and Miao groups;both populations had a high degree of genetic differentiation from most Turkic-speaking populations.Aforementioned results suggested that the 30 autosomal InDels are highly polymorphic and informative,which are suitable for human identification and population genetics.
基金The study was supported by an overseas research grant to Muhammad Adnan Shan from the University of the Punjab,Pakistan[grant number D-1829-Est-I/2017].
文摘We investigated the forensic efficacy of the 30 insertion/deletion(Indel)markers included in the Qiagen Investigator■DIPplex kit in 529 Pakistani individuals from five major subpopulations in Pakistan(Punjabi,Pashtun,Sindhi,Saraiki,and Baloch).In the Sindhi population,the distribution of HLD81 and HLD97 alleles deviated from Hardy-Weinberg equilibrium after Bonferroni correction.The combined match probability ranged from 2.0E-12(Pashtun and Baloch)to 1.0E-12(Sindhi),and the mean paternity exclusion power varied from 0.995(Punjabi,Sindhi,and Saraiki)to 0.996(Pashtun and Baloch).The high combined power of discrimination(0.99999999999997)and low combined match probability(1.7E-12)for all subpopulations studied support the utility of the 30 Indel markers for forensic identification in the studied subpopulations.The allele frequencies of the Indel markers in the Pakistani subpopulations were compared with those from 18 other populations.The results show that the populations clustered according to geography.The subpopulations investigated in this work showed a close genetic relationship with others from Pakistan,as well as with South Central Asian and Middle Eastern populations.The results suggest that the Investigator■DIPplex kit can be useful as a supplementary tool for human identification in the five Pakistani subpopulations investigated in this study.
基金This study was financially supported by The Fundamental Research Funds for the Central Research Institutes with project number“2017JB004.”
文摘For comprehensive understanding of practical application and evaluation on the power of30 commonly used InDeis(Qiagen Investigator DIPplex®kit),we captured population data from 25 Chinese populations and employed F-statistics for population genetics analysis.The results indicated that the distributions of allelic frequencies among populations were in different levels.Furthermore,the phylogeny confoiming pairwise FST distances showed that the difierentiation of majority populations were consistent with their geographic locations and historic dispersals.We conduct the comprehensive correlation analysis between FST and heterozygosity of30 InDel loci and provided strong evidence for ongoing InDei loci selection.The Fst values of 30 InDels were calculated within 25 Chinese populations,and then,these loci were characterized definitely based on their roles in population genetics or individual identification.Data indicated that 17 InDels with FST<0.01 could be utilized regarding Chinese individual identification(total discrimination power=0.999985 and cumulative matching probability=0.00000009).We comprehensively reconstructed the population structure and filled the gap of evaluating the ability of InDels in personal as well as population identification.The application of InDel loci in the forensic area would convincingly promote the development matter of forensic population identification and personal discrimination.
