D21S11位点三等位基因峰的遗传研究

Yukinobu Kutsuwada
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引用次数: 0

摘要

在商业STR试剂盒检测的情况下,很少从单源DNA中检测到三等位基因峰,而在每个位点上经常观察到纯合或杂合峰。健康人群中可能出现三等位基因的模式,而diŠerent来源的各种三等位基因的峰值平衡可能会导致一些问题,即从伪峰aŠecting中辨别STR分型的结果,或在亲属关系评价中存在差异。在本研究中,diŠerent志愿者的D21S11三等位基因(等位基因26、29和30)样本使用常规STR分析方法进行检测。三等位基因的峰值平衡在不同样品之间差异显著,因此在diŠerentiation的早期阶段由体细胞突变引起的1型三等位基因模式是可能的,因为在每种情况下,较低的两个峰高的总和大致等于最高的峰高。对个体家庭成员的直接序列分析显示,三等位基因模式既没有从母亲那里遗传,也没有传给女儿。此外,还鉴定了其中一个三等位基因的突变形式及其突变的重复单位和数量。当怀疑是三等位基因峰时,不仅要分析基因座内的峰平衡,而且要分析整个电泳图。这意味着考虑到拉起峰或口吃峰可能类似于三等位基因峰,STR分型是必要的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic research to evaluate tri-allelic peaks on D21S11 locus
Tri-allelic peaks are rarely detected from single-source DNA in the case of testing with commercial STR kits, while homozygous or heterozygous peaks are fre-quently observed at each locus. Tri-allelic patterns can possibly occur in healthy peo-ple, and the peak balance of various tri-alleles from diŠerent origins can cause some problems that discern from artifact peaks aŠecting the result of STR typing, or di‹culties in the evaluation of kinship. In this study, diŠerent samples from a volunteer with D21S11 tri-alleles ( alleles 26, 29, and 30 ) were tested using routine STR analysis methods. The peak balances of the tri-allele varied signiˆcantly between samples, therefore a type 1 tri-allelic pattern caused by somatic mutation in the early stages of diŠerentiation was possible because the sum of the lower two peak heights was roughly equal to the highest peak height in every case. Direct sequence analysis of the individual's family members revealed that the tri-allelic pattern was not inherited from the mother, nor was it passed down to the daughter. In addition, a mutated form of one of the tri-alleles and its mutated repeat unit and numbers were identiˆed. When tri-allelic peaks are suspected, it is essential to analyze not only intra-locus peak balance but also the whole electropherogram proˆle. This means that STR typ-ing is necessary considering the fact that pull-up peaks or stutter peaks could resem-ble tri-allelic peaks.
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