Comprehensive annotated STR physical map of the human Y chromosome: Forensic implications
Comprehensive annotated STR physical map of the human Y chromosome: Forensic implications
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DOI：
10.1016/j.legalmed.2005.10.001
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发表时间：
2006-03-01
期刊：
影响因子：
1.5
通讯作者：
Ballantyne, Jack
中科院分区：
文献类型：
--
作者：
Hanson, Erin K.;Ballantyne, Jack
来自不同来源的大量 Y-STR 标记已存放在公共数据库中，并代表了纳入下一代 Y-STR 多重标记以供法医使用的潜在候选者。在这里，基于人类基因组数据库中已存储的所有 Y-STR 位点 (> 400)，我们使用最新的人类基因组测序数据 (NCBI Build 35) 沿 Y 染色体顺序定位每个位点。从这项工作中获得的信息定义了所有潜在法医相关 Y-STR 位点的数量和相对位置、它们在 Y 染色体物理连锁图中的位置以及它们与结构基因的关系。我们的结论是，目前至少存在 417 个独立的 Y-STR 标记可用于潜在的法医用途，尽管其中许多标记由于其他原因将被发现不适合。然而，从这些数据中，我们能够识别出 28 对重复基因座，这些基因座被赋予单独的 DYS 名称，以及四对具有重叠侧翼区域的基因座。从每组重复中删除一个基因座，将潜在有用的基因座数量从 417 个减少到 389 个。导出的信息对于设计新型 Y-STR 多重序列的工作人员应该有用，以确保非同义基因座的存在，并在需要时避免位于结构基因内的基因座。对于法医案件从业者（或分子人类学家）来说，它也可能有用，有助于区分染色体重排（例如重复和缺失）和真正的 DNA 混合物或由引物结合位点突变引起的无效等位基因。我们展示了染色体定位数据在使用 94 个 Y-STR 位点设计八个多重系统中的实际用途。 (c) 2005 Elsevier Ireland Ltd. 保留所有权利。
A plethora of Y-STR markers from diverse sources have been deposited in public databases and represent potential candidates for incorporation into the next generation of Y-STR multiplexes for forensic use. Here, based upon all of the Y-STR loci that have been deposited in the human genome database (> 400), we have sequentially positioned each one along the Y chromosome using the most current human genome sequencing data (NCBI Build 35). The information derived from this work defines the number and relative position of all potentially forensically relevant Y-STR loci, their location within the physical linkage map of the Y chromosome and their relationship to structural genes. We conclude that there exists at present at least 417 separate Y-STR markers available for potential forensic use, although many of these will be found to be unsuitable for other reasons. However, from this data, we were able to identify 28 pairs of duplicated loci that were given separate DYS designations and four pairs of loci with overlapping flanking regions. Removing one locus from each set of duplicates reduced the number of potentially useful loci from 417 to 389. The derived information should be useful for workers who are designing novel Y-STR multiplexes to ensure the presence of non-synonymous loci and, if so desired, to avoid loci that lie within structural genes. It may also be useful for forensic casework practitioners (or molecular anthropologists) to aid in distinguishing between chromosomal rearrangements (such as duplications and deletions) and bona fide DNA admixtures or null alleles caused by primer binding site mutations. We illustrate the practical usefulness of the chromosomal positioning data in the design of eight multiplex systems using 94 Y-STR loci. (c) 2005 Elsevier Ireland Ltd. All rights reserved.