DYS527a/b、DYF387S1a/b基因座多带与Y-SNP单倍群的关联性初探  

The association between the DYS527a/b and DYF387S1a/b multi-allele pattern and Y-SNP haplogroups

作　　者：张艺严 黄磊 陈雪云[3] 邓钧 何玮[3] 翟滇[3] 杨广森 程宝文[3] Zhang Yiyan;Huang Lei;Chen Xueyun;Deng Jun;He Wei;Zhai Dian;Yang Guangsen;Cheng Baowen(Kunming Medical University School of Forensic Medicine,Kunming 650500,China;Institute of Criminal Science and Technology,Kunming Public Security Bureau 650000,Kunming,Yunnan,China;Criminal Investigation Corps of Yunnan Provincial Public Security Department,Kunming,Yunnan,650031,China)

机构地区：[1]昆明医科大学法医学院,云南昆明650500 [2]昆明市公安局刑事科学技术研究所,云南昆明650000 [3]云南省公安厅刑侦总队,云南昆明650031

出　　处：《中国法医学杂志》2023年第6期670-675,682,共7页Chinese Journal of Forensic Medicine

基　　金：北京市现场物证检验工程技术研究中心(2021CSEEKFKT08)。

摘　　要：目的 探讨DYS527a/b与DYF387S1a/b基因座多带分型与Y-SNP单倍群的关联性。方法 用YFilerPlus?试剂盒检测昆明地区DYS527a/b基因座为多带的295例无关男性样本,获取DYS527a/b、DYF387S1a/b和DYS385a/b等3个多拷贝基因座和各单拷贝基因座的基因型及其频率分布;用42个Y-SNP位点构成的AIYSNP42试剂盒对上述样本进行Y-SNP单倍群检测,探讨DYS527a/b基因座多带及其构成单倍型与相关单倍群的关联性。结果 295例样本中DYS527a/b基因座97.29%为三带分型、2.71%的为四带分型;DYF387S1a/b基因座54.24%的分型为三带、4.75%的分型为四带;DYS448基因座则检测出13.22%的分型缺失。Y-SNP位点共检测出O-M175和C-M130等7种单倍群,其中O-M175(135例)、C-M130(133例),分别为占45.76%和45.08%,而R1-M173、N-M231、D1-M174、J-M304和F-M89单倍群低于13例频率介于4.41%~0.34%之间。不同单倍群下Y-STR分型频率也有所差异。O单倍群下DYS385a/b(12/12,XX)、DYS392(13)、DYS593(16)、DYS393(12),C单倍群下DYS527a/b(19/20/21)、DYS385a/b(11)、DYS593(17)、DYS390(23)、Y_GATA_H4(11)和DYS444(13)等分型高频分布。结论 DYS527a/b基因座多带高频分布于昆明地区C单倍群人群中,较多的C、R1单倍群样本DYS527a/b与DYF387S1a/b基因座分型同时为多带分型;DYS527a/b、DYF387S1a/b基因座的多带、DYS385a/b基因座及DYS392等基因座中的高频基因分型在O、C、R1和N单倍群样本频率分布差异明显,为综合利用各基因座遗传信息与Y-SNP单倍群的关联性进而在父系家系排查中寻找更多的族源、地域信息提供方向。Objective To investigate the association of the DYS527a/b and DYF387S1a/b multi-allele pattern with Y-SNP haplogroups.Methods Samples from 295 unrelated males who carrying the DYS527a/b multi-allele pattern were amplified by the YFilerPlus®kit.The genotypes of their frequency distributions,including three multi-copy loci(DYS527a/b,DYF387S1a/b,DYS385a/b)and other single-copy loci were obtained.The DYS527a/b multi-allele pattern and their haplotypes were examined for the associations with Y-chromosome haplogroups using the AIYSNP42 kit,which contains 42 Y-SNP loci.Based on the above results,the association between the DYS527a/b multi-allele patter and its constituent Y-STR haplotypes and related haplogroups was discussed.Results Among the 295 samples,the DYS527a/b tri-allele pattern and tetra-allele pattern accounted for 97.29%and 2.71%respectively,while the DYF387S1a/b tri-allele pattern and tetraallele encompassed 54.24%and 4.75%.Null allele was detected in DYS448 in 13.22%of the samples.Here,7 Y-SNPs were deticted such as O-M175 and C-M131 which encompassed 45.76%and 45.08%.The haplogroups of R1-M173,N-M231,D1-M174,J-M304 and F-M89 were less than 13 cases,with frequencies ranging from 4.41%~0.34%.There were Y-STR genotypes differences among haplogroups,as haplogroup O-M175 was represented by 4 genotypes of Y-STR profiles characterized by DYS385a/b(12/12,as well as 12/17,12/18,12/19),DYS392(13),DYS593(16)and DYS393(12),and haplogroup C-M130 was characterized by DYS527a/b(19/20/21),DYS385a/b(11),DYS593(17),DYS390(23),Y_GATA_H4(11),and DYS444(13)and so on.Conclusion The DYS527a/b multi-allele pattern is frequently observed in the Kunming population with haplogroup C-M130.In the samples from haplogroups O,C,R1 and N,the DYS527a/b and DYF387S1a/b haplotypes frequently exhibit the multi-allele pattern.Given the frequencies of different haplogroups and the association between Y-SNP haplogroups and Y-STR loci,it could be helpful to look for more details in the paternal lineage search.

关 键 词：法医物证学 Y-STR Y-SNP DYS527a/b 基因转换 

分 类 号：D919.2[医药卫生—法医学]