染色体 17q21.31 倒置是普通结构的多型性首先在欧洲人口发现了的 900-kb。尽管在倒置区域以内的基因流动被假定可观压制,它关于在 H1 (非转换的顺序) 和 H2 (转换顺序) 之间的基因交换的细节仍然是不清楚的这倒置的 haplotypes。这里,我们在 17q21.31 区域以内描述在一些基因安排之间的基因交换的一张精制地图。用 1,546 单个核苷酸多型性的 HapMap 阶段 II 数据,我们成功地由加入邻居的树重建在欧洲样品推出了 96 H1 和 24 H2 haplotypes。而且,我们分别地与相互、非相互的基因交换识别了 15 和 26 条候选人道。在怀有相互的交换的所有 15 个区域, haplotypes 由克隆定序重建了没支持这些交换事件,建议这在某些异质接合的个人在二个姐妹染色体之间的交换发信号被分阶段执行错误区域引起。在另一方面,与非相互的基因流动越过 26 条道中的 4 个定序的完成的克隆证实这种基因交换被基因变换引起。在摘要,更加作为在一些基因安排之间的转线路被压制了,基因变换可能是为在 17q21.31 的基因交换的最重要的机制。
The chromosome 17q21.31 inversion is a 900-kb common structural polymorphism found primarily in European population. Although the genetic flux within inversion region was assumed to be considerable suppressed, it is still unclear about the details of genetic exchange between the H1 (non-inverted sequence) and H2 (inverted sequence) haplotypes of this inversion. Here we describe a refmed map of genetic exchanges between pairs of gene arrangements within the 17q21.31 region. Using HapMap phase II data of 1,546 single nucleotide polymorphisms, we successfully deduced 96 H1 and 24 H2 haplotypes in European samples by neighbor-joining tree reconstruction. Furthermore, we identified 15 and 26 candidate tracts with reciprocal and non-reciprocal genetic exchanges, respectively. In all 15 regions harboring reciprocal exchange, haplotypes reconstructed by clone sequencing did not support these exchange events, suggesting that such signals of exchange between two sister chromosomes in certain heterozygous individual were caused by phasing error regions. On the other hand, the finished clone sequencing across 4 of 26 tracts with non-reciprocal genetic flux confirmed that this kind of genetic exchange was caused by gene conversion. In summary, as crossover between pairs of gene arrangements had been considerably suppressed, gene conversion might be the most important mechanism for genetic exchange at 17q21.31.