A nomenclature system for the tree of human Y-chromosomal binary haplogroups.
A nomenclature system for the tree of human Y-chromosomal binary haplogroups.
复制标题
DOI：
10.1101/gr.217602
复制
发表时间：
2002-10
期刊：
影响因子：
7
通讯作者：
A. Redd
中科院分区：
文献类型：
--
作者：
A. Redd
Y 染色体包含人类基因组中最大的非重组块。凭借其许多多态性，它现在是信息最丰富的单倍型系统，可应用于进化研究、法医学、医学遗传学和谱系重建。然而，Y 染色体二元单倍群的几种不相关且非系统命名法的出现日益引起混乱。为了解决这个问题，我们对一组具有全球代表性的样本中的 245 个标记进行了基因分型，其中 74 个是来自 Y 染色体联盟细胞系存储库的雄性。为观察到的 153 个二元单倍群构建了一个最简约的系统发育。开发了一组简单的规则来明确标记嵌套在该树中的不同分支。这种分层命名法系统取代并统一了过去的命名法，并允许包含其他尚未发现的突变和单倍群。
The Y chromosome contains the largest nonrecombining block in the human genome. By virtue of its many polymorphisms, it is now the most informative haplotyping system, with applications in evolutionary studies, forensics, medical genetics, and genealogical reconstruction. However, the emergence of several unrelated and nonsystematic nomenclatures for Y-chromosomal binary haplogroups is an increasing source of confusion. To resolve this issue, 245 markers were genotyped in a globally representative set of samples, 74 of which were males from the Y Chromosome Consortium cell line repository. A single most parsimonious phylogeny was constructed for the 153 binary haplogroups observed. A simple set of rules was developed to unambiguously label the different clades nested within this tree. This hierarchical nomenclature system supersedes and unifies past nomenclatures and allows the inclusion of additional mutations and haplogroups yet to be discovered.