联合DNA索引系统（CODIS）短串联重复序列（STR）基因座在混合分析中的信息性。

Informativeness of the CODIS STR loci for admixture analysis.

作者信息

Barnholtz-Sloan Jill S, Pfaff Carrie L, Chakraborty Ranajit, Long Jeffrey C

机构信息

H. Lee Moffitt Cancer Center & Research Institute Tampa, FL 33612, USA.

出版信息

J Forensic Sci. 2005 Nov;50(6):1322-6.

PMID:16382826

Abstract

Population admixture (or ancestry) is used as an approach to gene discovery in complex diseases, particularly when the disease prevalence varies widely across geographic populations. Admixture analysis could be useful for forensics because an indication of a perpetrator's ancestry would narrow the pool of suspects for a particular crime. The purpose of this study was to use Fisher's information to identify informative sets of markers for admixture analysis. Using published founding population allele frequencies we test three marker sets for efficacy for estimating admixture: the FBI CODIS Core STR loci, the HGDP-CEPH Human Genome Diversity Cell Line Panel and the set of 39 ancestry informative SNPS from the Shriver lab at Pennsylvania State University. We conclude that the FBI CODIS Core STR set is valid for admixture analysis, but not the most precise. We recommend using a combination of the most informative markers from the HGDP-CEPH and Shriver loci sets.

摘要

人群混合（或血统）被用作复杂疾病基因发现的一种方法，特别是当疾病患病率在不同地理人群中差异很大时。混合分析对法医学可能有用，因为犯罪者血统的线索会缩小特定犯罪的嫌疑人范围。本研究的目的是利用费舍尔信息来识别用于混合分析的信息性标记集。利用已发表的奠基人群等位基因频率，我们测试了三组标记用于估计混合的功效：联邦调查局联合DNA索引系统（CODIS）核心短串联重复序列（STR）位点、人类基因组多样性细胞系计划（HGDP-CEPH）人类基因组多样性细胞系面板以及宾夕法尼亚州立大学施赖弗实验室的39个血统信息单核苷酸多态性（SNP）集合。我们得出结论，联邦调查局CODIS核心STR集对混合分析有效，但不是最精确的。我们建议结合使用HGDP-CEPH和施赖弗位点集中信息性最强的标记。