Phillips M S, Lawrence R, Sachidanandam R, Morris A P, Balding D J, Donaldson M A, Studebaker J F, Ankener W M, Alfisi S V, Kuo F-S, Camisa A L, Pazorov V, Scott K E, Carey B J, Faith J, Katari G, Bhatti H A, Cyr J M, Derohannessian V, Elosua C, Forman A M, Grecco N M, Hock C R, Kuebler J M, Lathrop J A, Mockler M A, Nachtman E P, Restine S L, Varde S A, Hozza M J, Gelfand C A, Broxholme J, Abecasis G R, Boyce-Jacino M T, Cardon L R
Orchid Biosciences Inc., 303A College Road East, Princeton, New Jersey 08540, USA.
Nat Genet. 2003 Mar;33(3):382-7. doi: 10.1038/ng1100. Epub 2003 Feb 18.
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. Using publicly available genetic markers, we have constructed a first-generation haplotype map of chromosome 19. As expected for this marker density, 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.
近期针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，且具有由重组热点定义的离散边界。利用公开可得的遗传标记，我们构建了19号染色体的第一代单倍型图谱。对于这种标记密度而言，不出所料，该染色体约三分之一的区域被包含在单倍型块内。数据的进化建模表明，如果考虑标记确定和观察到的标记间距，解释大多数观察到的块并不需要重组热点。相比之下，有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。
