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对来自土耳其南部和东部的100对父子中13个快速突变的Y染色体短串联重复序列(Y-STR)位点进行基因分型。

Genetic characterisation of 13 rapidly mutating Y-STR loci in 100 father and son pairs from South and East Turkey.

作者信息

Ay Mustafa, Serin Ayse, Sevay Huseyin, Gurkan Cemal, Canan Husniye

机构信息

a Department of Forensic Medicine , Institute of Health Science, University of Cukurova , Adana , Turkey.

b Department of Forensic Medicine, Faculty of Medicine , University of Cukurova , Adana , Turkey.

出版信息

Ann Hum Biol. 2018 Sep-Dec;45(6-8):506-515. doi: 10.1080/03014460.2018.1559353. Epub 2019 Feb 20.

Abstract

BACKGROUND

Rapidly mutating (RM) Y-STRs recently emerged as a useful genotyping tool that can counteract problems normally associated with traditional Y-STRs. For instance, RM Y-STRs have the potential to differentiate Y-chromosomes from both close and distant paternal relatives.

AIM

Characterisation of 13 RM Y-STR loci in a new sample pool from Turkey in terms of population genetic data and mutation rates.

SUBJECTS AND METHODS

One hundred father-son pairs from South and East Turkey were genotyped. Based on the 99 father haplotypes unique to the current study, statistical parameters of forensic interest were computed. Nei's D distances among 112 global population datasets were estimated and visualised by phylogenetic and multidimensional scaling (MDS) analyses.

RESULTS

Fifteen father-son pairs were found to differ at a single locus and four at two loci, resulting in a differentiation rate of 19%. Mutations were observed at 10 out of 13 loci, with rates ranging from 1 × 10 to 6 × 10.

CONCLUSION

Mutation rates and differentiation rates between the father-son pairs were similar to those from the literature. In contrast to previous work, novel phylogenetic tree construction results based on Nei's D distances suggested a close correlation between the geographic and genetic distances observed, except for known cases of past mass migration events.

摘要

背景

快速突变(RM)Y染色体短串联重复序列(Y-STR)最近成为一种有用的基因分型工具,可解决通常与传统Y-STR相关的问题。例如,RM Y-STR有潜力区分近亲和远亲的Y染色体。

目的

根据群体遗传数据和突变率,对来自土耳其的一个新样本库中的13个RM Y-STR基因座进行特征分析。

对象与方法

对来自土耳其南部和东部的100对父子进行基因分型。基于本研究中99个独特的父亲单倍型,计算了法医感兴趣的统计参数。通过系统发育分析和多维尺度分析(MDS)估计并可视化了112个全球人群数据集之间的Nei氏D距离。

结果

发现15对父子在单个基因座上存在差异,4对在两个基因座上存在差异,分化率为19%。在13个基因座中的10个观察到突变,突变率范围为1×10至6×10。

结论

父子对之间的突变率和分化率与文献报道的相似。与之前的工作不同,基于Nei氏D距离构建的新系统发育树结果表明,除了已知的过去大规模迁移事件外,观察到的地理距离和遗传距离之间存在密切相关性。

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