SNPSTRs: Empirically derived, rapidly typed, autosomal Haplotypes for inference of population history and mutational processes
SNPSTRs: Empirically derived, rapidly typed, autosomal Haplotypes for inference of population history and mutational processes
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DOI：
10.1101/gr.238602
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发表时间：
2002-11-01
期刊：
影响因子：
7
通讯作者：
Underhill, PA
中科院分区：
文献类型：
--
作者：
Mountain, JL;Knight, A;Underhill, PA
有性生殖生物体的基因组的每个独立进化的片段都有一个单独的历史，反映了该生物体进化历史的一部分。单亲或克隆遗传的 DNA 片段，例如线粒体和叶绿体基因组以及 Y 染色体的非重组部分，迄今为止提供了有关群体内部和群体之间复合单倍型变异的大多数已知数据。这些相对较小的片段包含许多多态性位点并且很少或不发生重组。然而，重组常染色体构成了遗传变异的主要储存库。技术挑战和重组限制了常染色体单倍型的大规模应用。我们通过开发评估短常染色体 DNA 片段的通用方法克服了这一障碍。每个这样的片段包括一个或多个单核苷酸多态性（SNP）和恰好一个短串联重复（STR）基因座。由于突变率显着不同，这两种类型的遗传标记提供了互补的进化信息。我们将 SNP 和 STR 多态性的组合称为 SNPSTR，并开发了一种简单、快速的方法来凭经验确定双杂合子和三杂合子的配子期。在这里，我们用两个 SNPSTR 系统来说明该方法。尽管即使只有一个系统也能深入了解种群历史，但该方法的强大之处在于结合多个 SNPSTR 系统的结果。
Each independently evolving segment of the genomes of a Sexually reproducing organism has a separate history reflecting part of the evolutionary history of that organism. Uniparentally or clonally inherited DNA segments Such as the mitochondrial and chloroplast genomes and the nonrecombining portion of the Y chromosome have provided, to date, most of the known data regarding compound haplotypic variation within and among populations. These comparatively small segments include numerous polymorphic sites and undergo little or no recombination. Recombining autosomes, however, comprise the major repository of genetic variation. Technical challenges and recombination have limited large-scale application of autosomal haplotypes. We have overcome this barrier through development of a general approach to the assessment of short autosomal DNA segments. Each such segment includes one or more single nucleotide polymorphisms (SNPs) and exactly one short tandem repeat (STR) locus. With dramatically different mutation rates, these two types of genetic markers provide complementary evolutionary information. We call the combination of a SNP and a STR polymorphism a SNPSTR, and have developed a simple, rapid method for empirically determining gametic phase for double and triple heterozygotes. Here, we illustrate the approach with two SNPSTR systems. Although even one system provides insight into Population history, the power of the approach lies in combining results from Multiple SNPSTR systems.