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21 个常染色体 STR 基因座突变率评估:亲权鉴定经验。

Mutation rate evaluation at 21 autosomal STR loci: Paternity testing experience.

机构信息

Chimera Transplant Research Foundation, New Delhi, India.

Chimera Transplant Research Foundation, New Delhi, India.

出版信息

Leg Med (Tokyo). 2022 Sep;58:102080. doi: 10.1016/j.legalmed.2022.102080. Epub 2022 May 4.

Abstract

The short tandem repeats (STRs) or microsatellites are used for paternity testing and these sequences mutate more rapidlythanbulkDNAsequences. A total of 746 paternity cases were analysed to understand the mutation rate of 21 autosomal STR loci. We identified 41 mutations in 11 STR Loci with a maximum at SE33. No mutations occurred in the remaining 10 STR loci. The overall average mutation rate was estimated as 0.004523 and the estimated locus-specific mutation rate varied between 0.001214 and 0.016990. Among these 90.24% was accounted for single-step mutation, 2.44% for two steps, and 7.32 % for three or muti steps. The obtained data is crucial and could be helpful for ensuring the accuracy of DNA testing and interpretation.

摘要

短串联重复序列(STRs)或微卫星通常用于亲子鉴定,这些序列的突变速度比大部分 DNA 序列更快。本研究共分析了 746 例亲子鉴定案例,以了解 21 个常染色体 STR 基因座的突变率。在 11 个 STR 基因座中发现了 41 个突变,其中 SE33 基因座的突变最多。其余 10 个 STR 基因座没有发生突变。总体平均突变率估计为 0.004523,估计的基因座特异性突变率在 0.001214 到 0.016990 之间。其中,90.24%为单步突变,2.44%为两步突变,7.32%为三步或多步突变。获得的数据至关重要,可以帮助确保 DNA 检测和解释的准确性。

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