云南汉族家系Y—STR基因座突变率研究

目的研究Y—filer试剂盒中DYS19等基因座在云南省汉族家系样本中的突变率。方法应用Y—filer试剂盒中的DYS456等16个Y—STR基因座对云南省30个汉族家系爷／孙、叔／侄和兄弟／堂兄弟亲权关系的106份样本进行基因分型检测，对DYS19等基因座分型与家系其他成员不同的样本分别进行了单位点的测序。结果6个（周姓、徐姓、王姓、袁姓、许姓、李姓）不同父系姓氏7例样本的10个Y—STR基因座发生突变，分别是DYS19、DYS385各2例，DYS389Ⅰ、DYS389Ⅱ、DYS390、DYS458、DYS393、DYS635各1例，总突变率为5．549‰；王姓、袁姓、许姓家系中各有1例样本分别在2个Y—STR基因座上发生了突变。结论男性家系中随机样本Y—STR基因座的突变率高于父子对样本；用Y—STR基因座进行父系亲权鉴定和男性嫌疑人的家系排查时，既使有2个Y—STR基因座分型不同时也不要轻易排除其来源于同一父系家系。

Study on the mutation rate of 16 Y-STRs in different generation pedigree samples from Yunnan Han population

Objective To estimate the mutation rate of 16 Y-STRs in the AmpFLSTR Y-filer kit in different generation pedigree samples from Yunnan Han population. Methods 16 Y-STR loci (DYS19, DYS385 a/b, DYS389Ⅰ, DYS389Ⅱ, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y-GATA H4) were analyzed in a male sample of 106 unrelated individuals from 30 Han pedigree from Yunnan province using the AmpFLSTR Y-filer kit, and samples that the typing results had been different with that of others from the same pedigree were sequenced respectively. Results 10 mutations were observed in 7 samples from six different pedigrees, and two mutations for DYS19 and DYS385 loci and one each for DYS389I, DYS390, DYS389Ⅱ, DYS458, DYS390 and DYS635 markers. The overall mutation rate estimated across the 16 Y-STRs was 5.549 × 10-3. Two Y-STR gene mutations were observed in 3 different samples from Wang, Yuan and Xu surname pedigrees respectively. Conclusion More mutations were observed in the sample from the same male pedigree than that from the father/son pairs. When Y-STRs were used in paternity testing involving male children and ascertaining the male criminals through paternal lineage methods, even if the typing results between two samples were different in two Y-STR loci, we should not easily conclude that they are not from the same paternal pedigree.