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人类X染色体上的二核苷酸(CA)n串联重复序列与地中海人群的历史

Dinucleotide (CA)n tandem repeats on the human X-chromosome and the history of the Mediterranean populations.

作者信息

Santamaría Josep, Álvarez-Álvarez Miguel M, Esteban M Esther, Ramon-Gurrea Elies, Moral Pedro

机构信息

a Departamento de Biologia Evolutiva, Ecología y Ciencias Ambientales , Universitat de Barcelona , Barcelona , Spain.

出版信息

Ann Hum Biol. 2018 Feb;45(1):72-76. doi: 10.1080/03014460.2017.1414877.

Abstract

BACKGROUND

Tandem repeats (STRs) are genomic markers of particular interest in forensic and population genetics. Most of the population data currently available correspond to the variation of STRs of forensic panels, which barely include dinucleotide tandem repeats.

AIMS

The aim of the study is to test the usefulness of a battery of dinucleotide STRs on the X chromosome for population and forensic studies.

SUBJECTS AND METHODS

A total of 672 individuals from 12 Mediterranean populations and two external references were analysed for 15 X-STR following the instructions of the commercial company and using control DNA from the CEPH centre whose sequences are published in GenBank. Genotypic results were analysed using standard population genetics methods including estimates of linkage disequilibrium, population structure and gene flow. Common forensic efficiency parameters were calculated.

RESULTS

The analysed X-STRs show high values of genetic diversity, comparable to other STRs of more common use. No significant associations between markers were found. A slight population structure was detected between the two shores of the Mediterranean. The X-STRs studied here present a similar degree of variability to that of other X-STRs used in forensics.

CONCLUSION

Tandem-repeated dinucleotides are a good tool for evidencing population differences here. Forensic parameters indicate that the dinucleotide X-STRs are suitable for forensic use.

摘要

背景

串联重复序列(STRs)是法医和群体遗传学中特别受关注的基因组标记。目前可用的大多数群体数据对应于法医检测板中STRs的变异,其中几乎不包括二核苷酸串联重复序列。

目的

本研究的目的是测试一组位于X染色体上的二核苷酸STRs在群体和法医研究中的实用性。

对象和方法

按照商业公司的说明,对来自12个地中海群体的672名个体和两个外部参照群体进行了15个X-STRs的分析,并使用了CEPH中心的对照DNA,其序列已在GenBank上公布。使用标准群体遗传学方法分析基因型结果,包括连锁不平衡、群体结构和基因流的估计。计算了常见的法医效率参数。

结果

所分析的X-STRs显示出较高的遗传多样性值,与其他更常用的STRs相当。未发现标记之间存在显著关联。在地中海两岸检测到轻微的群体结构。这里研究的X-STRs呈现出与法医中使用的其他X-STRs相似程度的变异性。

结论

串联重复二核苷酸是证明这里群体差异的良好工具。法医参数表明二核苷酸X-STRs适用于法医用途。

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