18个X-STR在中国北方汉族人群中的突变率研究

摘要

从484个北方汉族家系人员中提取获得模板DNA,并用TYPERX19扩增试剂盒检测分析,在5 652次等位基因传递中,有6个基因座(DXS6810,DXS8378,DXS6797,DXS7423,DXS7424,DXS8377)共发生了8次突变,DXS6810和DXS8377的突变率为0.006 4,DXS8378,DXS6797,DXS7423和DXS7424的突变率为0.003 2,其他12个基因座未观察到突变,18个X-STR的平均突变率为0.001 4,所有的突变都是一步突变,各基因座之间的突变率没有显著性差异(P＞0.05),在所有突变中,增加突变和减少突变没有显著差异,X-STR基因座突变率和等位基因长度有关,等位基因重复次数越多越容易突变,大部分的突变来源于父亲.%Genomic DNA samples extracted from blood stains from 484 lineage members from North Chinese Han population were genotyped with TYPERX19 kit.In a total of 5 652 allele transmissions,8 mutations were detected from 6 different markers including DXS6810,DXS8378,DXS6797,DXS7423,DXS7424,DXS8377 through the 484 lineage members,the mutation rate of DXS6810 and DXS8377 was 0.006 4,the mutation rate of DXS8378,DXS6797,DXS7423 and DXS7424 was 0.003 2.No mutation was found in the other 12 markers.The average mutation rate across all 18 X-STR markers was 0.001 4.All mutations were with single step.There were no significant differences between mutation rates of different X-STR loci (P ＞ 0.05).The losses and gains were balanced at all loci.Mutation rates were correlated with the lengths of the alleles.Alleles with higher number of repeats were more likely to mutate.The origins of the mutation are mostly from the fathers.