Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots
Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots
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DOI：
10.1038/ng1100
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发表时间：
2003-03-01
期刊：
影响因子：
30.8
通讯作者：
Cardon, LR
中科院分区：
文献类型：
--
作者：
Phillips, MS;Lawrence, R;Cardon, LR
最近对人类群体的研究表明，基因组由祖先保守的染色体片段（“单倍型块”；参考文献 1-3）组成，并具有由重组热点定义的离散边界 (4,5)。使用公开可用的遗传标记 (6)，我们构建了 19 号染色体的第一代单倍型图。正如对该标记密度 (7) 的预期，大约三分之一的染色体包含在单倍型块内。数据的进化模型表明，只要考虑标记确定和观察到的标记间距，不需要重组热点来解释大多数观察到的块。相比之下，几个长块与我们的进化模型不一致，不同的机制可以解释它们的起源。
Recent studies of human populations suggest that the genome consists of chromosome segments that are ancestrally conserved ('haplotype blocks'; refs. 1-3) and have discrete boundaries defined by recombination hot spots(4,5). Using publicly available genetic markers(6), we have constructed a first-generation haplotype map of chromosome 19. As expected for this marker density(7), approximately one-third of the chromosome is encompassed within haplotype blocks. Evolutionary modeling of the data indicates that recombination hot spots are not required to explain most of the observed blocks, providing that marker ascertainment and the observed marker spacing are considered. In contrast, several long blocks are inconsistent with our evolutionary models, and different mechanisms could explain their origins.