Comprehensive analysis of Y⁃STRs and Y⁃SNPs in paternal lineage identification
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    Abstract:

    Objective:Evaluate the function of comprehensive analysis of Y-STRs and Y-SNPs,and apply network analysis in paternal lineage identification. Methods:Samples of 180 males from two pedigrees with different surnames were collected. Haplotypes at 26 Y-STRs loci were genotyped with YfilerTM Plus Kit. The genotypes of 42 Y-SNPs in 36 males selected from 180 males were obtained by mini-sequencing. The haplotypes were analyzed using direct counting method and network to discuss the variations of Y-STRs haplotypes within pedigree and the distribution of Y-SNPs haplogroups. Results:Eighteen Y-STRs haplotypes were found in 63 individuals of the P1 pedigree,and the 17 individuals selected all belonged to the N-M231 haplogroup;35 haplotypes were found in 117 samples of the P2 pedigree,and the 19 individuals selected all belonged to O1a1a1a1-F78 haplogroup. The network results showed that the P1 pedigree had a central tendency,while the P2 pedigree had two centers. Step-by-step mutation among Y-STR haplotypes within pedigree visually and clearly showed in the network. Conclusion:The Y-SNPs information and the network method integrated with the Y-STRs during pedigree investigation can largely broaden the scale in pedigree investigation,get more reliable paternal pedigree structure and increase the accuracy of paternal lineage identification.

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钱恩芳,吴文静,王 磊,王小娟,刘 杨,马 泉,赵 慧,李彩霞,黄 江,江 丽. Y⁃STRs和Y⁃SNPs综合分析方法在父系家系调查中的应用[J].南京医科大学学报(自然科学版英文版),2019,(8):1135-1141.

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  • Received:September 30,2018
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  • Online: August 29,2019
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