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一组用于五个亚洲人群和高加索人群血统鉴定的130个常染色体单核苷酸多态性。

A panel of 130 autosomal single-nucleotide polymorphisms for ancestry assignment in five Asian populations and in Caucasians.

作者信息

Hwa Hsiao-Lin, Lin Chih-Peng, Huang Tsun-Ying, Kuo Po-Hsiu, Hsieh Wei-Hsin, Lin Chun-Yen, Yin Hsiang-I, Tseng Li-Hui, Lee James Chun-I

机构信息

Department and Graduate Institute of Forensic Medicine, College of Medicine, National Taiwan University, No. 1, Sec. 1, Jen Ai Rd, Taipei, 100, Taiwan.

Department of Obstetrics and Gynecology, National Taiwan University Hospital, No. 7 Chung Shan S. Rd, Taipei, 100, Taiwan.

出版信息

Forensic Sci Med Pathol. 2017 Jun;13(2):177-187. doi: 10.1007/s12024-017-9863-8. Epub 2017 Apr 24.

Abstract

Ancestry informative single-nucleotide polymorphism (AISNP) panels for differentiating between East and Southeast Asian populations are scarce. This study aimed to identify AISNPs for ancestry assignment of five East and Southeast Asian populations, and Caucasians. We analyzed 145 autosomal SNPs of the 627 DNA samples from individuals of six populations (234 Taiwanese Han, 91 Filipinos, 79 Indonesians, 60 Thais, 71 Vietnamese, and 92 Caucasians) using arrays. The multiple logistic regression model and a multi-tier approach were used for ancestry classification. We observed that 130 AISNPs were effective for classifying the ethnic origins with fair accuracy. Among the 130 AISNPs, 122 were useful for stratification between these five Asian populations and 64 were effective for differentiating between Caucasians and these Asian populations. For differentiation between Caucasians and Asians, an accuracy rate of 100% was achieved in these 627 subjects with 50 optimal AISNPs among the 64 effective SNPs. For classification of the five Asian populations, the accuracy rates of ancestry inference using 20 to 57 SNPs for each of the two Asian populations ranged from 74.1% to 100%. Another 14 degraded DNA samples with incomplete profiling were analyzed, and the ancestry of 12 (85.7%) of those subjects was accurately assigned. We developed a 130-AISNP panel for ethnic origin differentiation between the five East and Southeast Asian populations and Caucasians. This AISNP set may be helpful for individual ancestral assignment of these populations in forensic casework.

摘要

用于区分东亚和东南亚人群的祖先信息单核苷酸多态性(AISNP)面板很少见。本研究旨在鉴定用于五个东亚和东南亚人群以及高加索人群祖先归属的AISNP。我们使用基因芯片分析了来自六个群体(234名台湾汉族、91名菲律宾人、79名印度尼西亚人、60名泰国人、71名越南人和92名高加索人)的627个DNA样本中的145个常染色体SNP。采用多元逻辑回归模型和多层方法进行祖先分类。我们观察到130个AISNP对准确分类种族起源有效。在这130个AISNP中,122个对这五个亚洲人群之间的分层有用,64个对区分高加索人和这些亚洲人群有效。对于区分高加索人和亚洲人,在这627名受试者中,使用64个有效SNP中的50个最佳AISNP,准确率达到了100%。对于五个亚洲人群的分类,使用20至57个SNP对两个亚洲人群中的每一个进行祖先推断的准确率在74.1%至100%之间。另外分析了14个基因分型不完整的降解DNA样本,其中12个(85.7%)受试者的祖先被准确归属。我们开发了一个130-AISNP面板,用于区分五个东亚和东南亚人群与高加索人群的种族起源。这个AISNP集可能有助于在法医案件工作中对这些人群进行个体祖先归属。

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