目的 研究三种不同的Y-STR分型体系(Yfiler,Yfiler®Plus和快速突变Y-STRs)在家系遗传过程中所展现出的变异程度。方法 选取一遗传关系清晰的汉族家系,利用Yfiler®Plus复合扩增系统和包含7个快速突变Y-STR基因座的复合扩增系统,得到所采男性样本32个Y-STR基因座的分型数据,统计分析Y-STR单倍型在世代遗传中的变化程度。结果 同一家系不同男性个体的Y-STR单倍型具有一定的多样性,并且与Y-STR单倍型包含的基因座数量和基因座突变率有关;当家系中两名男性个体相隔10次减数分裂时,其Yfiler单倍型不一致的概率为7.35%,YfilerPlus单倍型不一致的概率是91.2%,快速突变Y-STR单倍型不一致的概率则为100%。结论 包含不同Y-STR基因座组合的Y-STR单倍型在世代遗传过程中的变化程度差异较大,在亲权鉴定和家系排查过程中特别是当Y-STR分型体系包含快速突变Y-STR基因座时应留心关注。本研究对Y-STR数据库建设中的采样规则和基因座选择也有参考价值。
Abstract
Objective To investigate the Y-STR haplotype variations within a pedigree by three Y-STR tests (Y filer, Y filer® Plus and the rapidly mutating Y-STR). Methods 32 Y-STR genotypes were obtained with both the Y filer® Plus kit and another multiplex amplification system enclosing 7 rapidly mutating Y-STRs to demonstrate the variations of Y-STR haplotypes. The variation patterns were analyzed through their emergence among generation descending. Results For different males in the big pedigree tested, their Y-STR haplotypes are of certain diversity, showing them very closely related to the amount and mutation rates of the involving Y-STR loci. The proportion of different Y-STR haplotypes increases along with meiosis times between individuals. When two relative males were separated by 10 meioses, the percentage of their Y-STR haplotypes was differentiated to 7.35% by Y filer, 91.2% by Y filer® Plus, and even 100% by rapidly mutating Y-STR. Conclusions Y-STR haplotypes, when consisted of different sets of Y-STR loci, reveal bigger diversity among various individuals due to the diverse mutating speed across their generation descending. Therefore, more attention should be paid in paternity test and familial search, especially when the Y-STR haplotype contains rapidly mutating Y-STRs. The discovery here should also be suggestive for Y-STR database construction.
关键词
法医遗传学 /
Y-STR单倍型变异 /
单倍型鉴定 /
快速突变Y-STR
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Key words
forensic genetics /
Y-STR haplotype variation /
haplotype identification /
rapidly mutating Y-STR (RM Y-STR)
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参考文献
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脚注
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基金
中央级公益性科研院所基本科研业务费专项资金项目（No.2013JB007）
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