ABSTRACT
OBJECTIVES@#To analyse the genetic polymorphisms of 19 autosomal STR loci in Han population of east, middle-northwest and southwest-south Shandong and to explore its genetic relationships among the population of these three regions.@*METHODS@#STR loci of 1 044 unrelated Han individuals in three Shandong regions were typed with a Goldeneye® DNA ID System 20A kit. The allele frequency and population genetics parameters of 19 autosomal STR loci were statistically analysed by Modified-Powerstates software. The genetic distances among the population in three regions were calculated by Arlequin v3.5 software. The phylogenetic tree was conducted using MEGA v4.0 software.@*RESULTS@#Fifteen of 19 autosomal STR loci were detected with the H values greater than 0.7, PIC values greater than 0.7, and DP values greater than 0.9 in the populations of all three Shandong regions. Among the populations in these three regions, the genetic distance between the populations in middle-northwest and southwest-south Shandong was closest (Fst=0.000 16), followed by east and southwest-south Shandong (Fst=0.0003 6). The genetic distance between the populations in east and middle-northwest Shandong was the farthest (Fst=0.000 66, P<0.05).@*CONCLUSIONS@#The 19 autosomal STR loci show good genetic polymorphisms in Han population of three Shandong regions, and 15 of them are high. There are genetic differences between the populations in east and middle-northwest Shandong.
Subject(s)
Humans , Asian People/genetics , China , Ethnicity , Gene Frequency , Genetic Loci/genetics , Genetics, Population , Microsatellite Repeats , Phylogeny , Polymorphism, Genetic/geneticsABSTRACT
OBJECTIVES@#To analyse the genetic polymorphism of 21 autosome STR loci in Han population of Shandong Province and the cases with loci mutation or allelic loss typed by Goldeneye® DNA identification system 25A.@*METHODS@#Totally 40 autosome STR loci types of 273 unrelated individuals in Han population of Shandong Province were typed by Goldeneye® DNA identification system 25A and 22NC, and the genetic polymorphism of 21 STR loci in those was analysed. Meanwhile, six cases with loci mutation were analysed by adding the tests with Goldeneye® DNA identification system 22NC, 20Y and 17X. Another three cases with allelic loss were tested by AmpFℓSTR® Identifiler® Plus PCR and analysed by gene sequencing.@*RESULTS@#The genetic parameters of 21 autosome STR loci in Han population of Shandong Province were obtained. When STR loci were added up to 40, five of those with loci mutation met the identification requirements, and the results of X-STR or Y-STR types were consistent with that of STR loci. There was another duo case with one suspected loci mutation, biological source of six STR loci genotypes could not be found in the genotypes of supposed father. The Y-STR genotype of two individuals was identical that indicated both of them came from same paternal line. However, the fatherhood was excluded according to the autosome STR loci system. For two cases with allelic loss on D18S51, base mutation or loss were found in the primer binding domain of mother and child by gene sequencing. Another mother-child case with allelic loss on D13S317 was certified by AmpFℓSTR® Identifiler® Plus PCR kit.@*CONCLUSIONS@#The 21 autosome STR loci in Han population of Shandong Province have high polymorphism, which can be used in routine cases of paternity identification. For some duo cases with loci mutation, Goldeneye® DNA identification system 25A cannot satisfy the identification requirements, thus more autosome STR loci should be added properly. For the cases with allelic loss, the problem can be resolved by gene sequencing or using different merchant kits.
Subject(s)
Humans , Asian People/genetics , China , Gene Frequency , Genetics, Population , Genotype , Loss of Heterozygosity , Microsatellite Repeats , Mutation/genetics , Paternity , Polymerase Chain Reaction , Polymorphism, GeneticABSTRACT
OBJECTIVE@#To investigate polymorphism distribution of the 5 Y-SNP loci in Jinan Han population, and evaluate their potential in forensic application.@*METHODS@#Genotyping of 5 Y-SNP loci (M89, M9, M122, M134, M95) were executed in the sample of 103 unrelated Chinese male individuals in Jinan Han population by using fragment length discrepant allele specific PCR (FLDAS-PCR).@*RESULTS@#In 5 Y-SNP loci, genetic polymorphism were identified in Jinan Han population, and the ranges of gene diversity(GD) were 0.093 3-0.491 2. Twenty different haplotypes were observed and the haplotypes diversity (HD) was 0.867 9. Six different haplogroups were detected according to international association of Y chromosome nomenclature.@*CONCLUSION@#Five Y-SNP loci and their haplogroups in Jinan Han population are highly polymorphic, which can provide more information for the genetic structure analysis and forensic genetics research in the region.