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德克萨斯州人口亚结构及其对从DNA证据估计Y染色体短串联重复序列单倍型稀有性的影响*

Texas population substructure and its impact on estimating the rarity of Y STR haplotypes from DNA evidence*.

作者信息

Budowle Bruce, Ge Jianye, Aranda Xavier G, Planz John V, Eisenberg Arthur J, Chakraborty Ranajit

机构信息

Department of Forensic and Investigative Genetics, Institute of Investigative Genetics, University of North Texas Health Science Center at Ft Worth, TX 76107, USA.

出版信息

J Forensic Sci. 2009 Sep;54(5):1016-21. doi: 10.1111/j.1556-4029.2009.01105.x. Epub 2009 Jul 15.

DOI:10.1111/j.1556-4029.2009.01105.x
PMID:19627418
Abstract

Three sampled populations of unrelated males--African American, Caucasian, and Hispanic, all from Texas-were typed for 16 Y short tandem repeat (STR) markers using the AmpFlSTR Yfiler kit. These samples also were typed previously for the 13 core CODIS autosomal STR loci. Most of the 16 marker haplotypes (2478 out of 2551 distinct haplotypes) were observed only once in the data sets. Haplotype diversities were 99.88%, 99.89%, and 99.87% for the African American, Caucasian, and Hispanic sample populations, respectively. F(ST) values were very small when a haplotype comprised 10-16 markers. This suggests that inclusion of substructure correction is not required. However, haplotypes consisting of fewer loci may require the inclusion of F(ST) corrections. The testing of independence of autosomal and Y STRs supports the proposition that the frequencies of autosomal and Y STR profiles can be combined using the product rule.

摘要

对来自得克萨斯州的三个不相关男性抽样群体——非裔美国人、白种人和西班牙裔人,使用AmpFlSTR Yfiler试剂盒对16个Y染色体短串联重复序列(STR)标记进行分型。这些样本之前也已对13个核心联合DNA索引系统(CODIS)常染色体STR位点进行了分型。在数据集中,16个标记单倍型中的大多数(2551个不同单倍型中的2478个)仅被观察到一次。非裔美国人、白种人和西班牙裔样本群体的单倍型多样性分别为99.88%、99.89%和99.87%。当一个单倍型包含10 - 16个标记时,F(ST)值非常小。这表明不需要纳入亚结构校正。然而,由较少位点组成的单倍型可能需要纳入F(ST)校正。常染色体和Y染色体STR独立性的检验支持了这样的观点,即常染色体和Y染色体STR谱的频率可以使用乘积法则进行合并。

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