Objective:To investigate 38 Y-chromosome short tandem repeat(Y-STR)genetic polymorphisms in Beijing Han and analyze the genetic distance with neighboring or linguistically similar populations.Materials and Methods:In ...Objective:To investigate 38 Y-chromosome short tandem repeat(Y-STR)genetic polymorphisms in Beijing Han and analyze the genetic distance with neighboring or linguistically similar populations.Materials and Methods:In the study,we selected 531 unrelated male individuals of Beijing Han,and the results were statistically analyzed by testing with GSTAR™41Y reagents.Results:The allele peak heights were balanced among the Y loci,the amplified fragment ranged from 100 to 500 bps.A total of 531 haplotypes were detected in 531 samples.Eight null genotypes were observed on locus DYS448.One and three double alleles were observed on single-copy locus DYS576 and DYS19,respectively.DYS385 a/b,DYF387S1 a/b,and DYS527 a/b were more common in double copies,but 3,13,and 11 triple alleles were detected,respectively.The gene diversity values of Y-STRs except DYS391,DYS438,and DYS645 were>0.5.Twenty-seven Y-STRs of Beijing Han population were selected for genetic distance comparison with 17 populations including Changchun Han,with Rst values ranging from 0.0002 to 0.1703.Conclusion:The 38 Y-STRs in this study have strong male lineage identification ability and have great potential for individual identification,kinship identification,Y-STR database construction,and genetic relationship research.展开更多
To investigate the genetic polymorphisms of 19 X‑STR loci in the Han population in Northern China,samples from 628 unrelated individuals(314 males and 314 females)were collected and 19 X‑STR loci were amplified by AGC...To investigate the genetic polymorphisms of 19 X‑STR loci in the Han population in Northern China,samples from 628 unrelated individuals(314 males and 314 females)were collected and 19 X‑STR loci were amplified by AGCU X19 STR System.A total of 270 different alleles were detected in 19 X‑STR loci.All loci were in Hardy−Weinberg equilibrium and there was only one pair of linkage loci(DXS10103‑DXS10101).There was no significant difference in allele frequency between male and female populations.The combined power of discrimination in males was 1–1.8667×10−13,while the combined power of discrimination in females was 1–3.6532×10−22.The combined mean paternity exclusion chance(CMEC)for X-chromosomal markers in father/daughter or mother/son duos Mean paternity exclusion chance(MECDesmarais Duo)was 1–5.1109×10−9.Moreover,the CMEC for X-chromosomal markers in trios involving daughters(MECDesmarais)was 1–2.0292×10−12.The compound amplification system composed of 19 X‑STR in this study showed high polymorphism in the Han population of Northern China,which had a high application value in difficult genetic relationship identification.展开更多
Complex kinship identification such as half‑sibling identification is a difficult task in forensic biology Here we represented an approach in dealing with half‑sisters from different mothers,with the combination of au...Complex kinship identification such as half‑sibling identification is a difficult task in forensic biology Here we represented an approach in dealing with half‑sisters from different mothers,with the combination of autosomal and X chromosomal short‑tandem repeats(STRs)data.X chromosomal STRs can offer additional information,especially in some cases where autosomal STRs alone may not provide enough information for an accurate opinion.In this case,half‑sister or unrelated relationship between two women(S_(1)and S_(2))with different mothers were distinguished.23 autosomal and 31 X chromosomal STRs of S_(1),S_(2),S_(1)’s mother(M1),S_(2)’s mother(M2)and S_(1)’s grandmother(G1)were profiled with three different commercial kits.As to X‑chromosome STRs,likelihood ratios(LRs)were calculated by FamLinkX with consideration of linkage,linkage disequilibrium,and mutations.When only the profiles of the two individuals(S_(1)and S_(2))were available,LRs between S_(1)and S_(2)were 1.1110×10^(2)based on 23 autosomal STRs and 3.2257 om107 based on 31 X chromosomal STRs.When the maternal genotypes were taken into consideration,LRs increased to 2.5297×10^(3)and 3.0563×10^(18).Therefore,both the DNA profiles of each mothers and X chromosomal STRs are important in dealing with the identification of half‑sisters from different mothers.展开更多
This study aimed to investigate the application of autosomal short tandem repeat(STR)loci using the ITO method and discriminant function algorithm for full‑sibling(FS)identification.A total of 342 pairs of full siblin...This study aimed to investigate the application of autosomal short tandem repeat(STR)loci using the ITO method and discriminant function algorithm for full‑sibling(FS)identification.A total of 342 pairs of full siblings(FSs)and 3900 pairs of unrelated individuals(UIs)were genotyped at 51 STR loci.The groups were in accordance with discrimination power(DP)values and the number of loci,and the values of FS index(FSI)of FSs and UIs were calculated by the ITO method.The discriminant functions of FS–UI were established using the Fisher’s discriminant analysis method with SPSS 19.0 software.All the lgFSI values in the FS and UI groups followed a normal distribution,and there were significant differences between the two pairs.A higher average DP value was associated with a more significant difference,as was a greater number of STR loci detected.Receiver operator characteristic curves showed that the accuracy of FS identification can be affected by both locus polymorphism and the number of loci detected.Comparing the rate of false positives and false negatives of discriminant function between the two groups,a higher average DP value and larger number of loci detected were associated with a lower rate of miscarriage of justice and were more helpful for FS–UI identification.The ITO‑based discriminant analysis method has high applicability in FS–UI tests.Testing of a greater number of STR loci promotes FS identification.展开更多
基金supported by opening research grants from Shanghai Key Lab of Forensic Medicine,Key Lab of Forensic Science,Ministry of Justice,PR.China(Academy of Forensic Science)(No.KF202111)supported by the Fundamental Research Funds for the Central Universities.
文摘Objective:To investigate 38 Y-chromosome short tandem repeat(Y-STR)genetic polymorphisms in Beijing Han and analyze the genetic distance with neighboring or linguistically similar populations.Materials and Methods:In the study,we selected 531 unrelated male individuals of Beijing Han,and the results were statistically analyzed by testing with GSTAR™41Y reagents.Results:The allele peak heights were balanced among the Y loci,the amplified fragment ranged from 100 to 500 bps.A total of 531 haplotypes were detected in 531 samples.Eight null genotypes were observed on locus DYS448.One and three double alleles were observed on single-copy locus DYS576 and DYS19,respectively.DYS385 a/b,DYF387S1 a/b,and DYS527 a/b were more common in double copies,but 3,13,and 11 triple alleles were detected,respectively.The gene diversity values of Y-STRs except DYS391,DYS438,and DYS645 were>0.5.Twenty-seven Y-STRs of Beijing Han population were selected for genetic distance comparison with 17 populations including Changchun Han,with Rst values ranging from 0.0002 to 0.1703.Conclusion:The 38 Y-STRs in this study have strong male lineage identification ability and have great potential for individual identification,kinship identification,Y-STR database construction,and genetic relationship research.
文摘To investigate the genetic polymorphisms of 19 X‑STR loci in the Han population in Northern China,samples from 628 unrelated individuals(314 males and 314 females)were collected and 19 X‑STR loci were amplified by AGCU X19 STR System.A total of 270 different alleles were detected in 19 X‑STR loci.All loci were in Hardy−Weinberg equilibrium and there was only one pair of linkage loci(DXS10103‑DXS10101).There was no significant difference in allele frequency between male and female populations.The combined power of discrimination in males was 1–1.8667×10−13,while the combined power of discrimination in females was 1–3.6532×10−22.The combined mean paternity exclusion chance(CMEC)for X-chromosomal markers in father/daughter or mother/son duos Mean paternity exclusion chance(MECDesmarais Duo)was 1–5.1109×10−9.Moreover,the CMEC for X-chromosomal markers in trios involving daughters(MECDesmarais)was 1–2.0292×10−12.The compound amplification system composed of 19 X‑STR in this study showed high polymorphism in the Han population of Northern China,which had a high application value in difficult genetic relationship identification.
基金This work was financially supported by the project of Humanities and Social Sciences Research of the Ministry of Education(No.19YJA820050).
文摘Complex kinship identification such as half‑sibling identification is a difficult task in forensic biology Here we represented an approach in dealing with half‑sisters from different mothers,with the combination of autosomal and X chromosomal short‑tandem repeats(STRs)data.X chromosomal STRs can offer additional information,especially in some cases where autosomal STRs alone may not provide enough information for an accurate opinion.In this case,half‑sister or unrelated relationship between two women(S_(1)and S_(2))with different mothers were distinguished.23 autosomal and 31 X chromosomal STRs of S_(1),S_(2),S_(1)’s mother(M1),S_(2)’s mother(M2)and S_(1)’s grandmother(G1)were profiled with three different commercial kits.As to X‑chromosome STRs,likelihood ratios(LRs)were calculated by FamLinkX with consideration of linkage,linkage disequilibrium,and mutations.When only the profiles of the two individuals(S_(1)and S_(2))were available,LRs between S_(1)and S_(2)were 1.1110×10^(2)based on 23 autosomal STRs and 3.2257 om107 based on 31 X chromosomal STRs.When the maternal genotypes were taken into consideration,LRs increased to 2.5297×10^(3)and 3.0563×10^(18).Therefore,both the DNA profiles of each mothers and X chromosomal STRs are important in dealing with the identification of half‑sisters from different mothers.
基金the Open Project of Key Laboratory of Forensic Genetics,Ministry of Public Security(2017FGKFKT03).
文摘This study aimed to investigate the application of autosomal short tandem repeat(STR)loci using the ITO method and discriminant function algorithm for full‑sibling(FS)identification.A total of 342 pairs of full siblings(FSs)and 3900 pairs of unrelated individuals(UIs)were genotyped at 51 STR loci.The groups were in accordance with discrimination power(DP)values and the number of loci,and the values of FS index(FSI)of FSs and UIs were calculated by the ITO method.The discriminant functions of FS–UI were established using the Fisher’s discriminant analysis method with SPSS 19.0 software.All the lgFSI values in the FS and UI groups followed a normal distribution,and there were significant differences between the two pairs.A higher average DP value was associated with a more significant difference,as was a greater number of STR loci detected.Receiver operator characteristic curves showed that the accuracy of FS identification can be affected by both locus polymorphism and the number of loci detected.Comparing the rate of false positives and false negatives of discriminant function between the two groups,a higher average DP value and larger number of loci detected were associated with a lower rate of miscarriage of justice and were more helpful for FS–UI identification.The ITO‑based discriminant analysis method has high applicability in FS–UI tests.Testing of a greater number of STR loci promotes FS identification.