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Genetic Flux Between H1 and H2 Haplotypes of the 17q21.31 Inversion in European Population
  • ISSN号:1672-0229
  • 期刊名称:《基因组蛋白质组与生物信息学报:英文版》
  • 时间:0
  • 分类:Q987[生物学—遗传学;生物学—人类学] O621.13[理学—有机化学;理学—化学]
  • 作者机构:[1]Faculty of Basic Medical Science, Nanchang University, Nanchang 330006, China, [2]Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100029, China, [3]Institute of Translational Medicine, Nanchang University, Nanchang 330006, China
  • 相关基金:This work was supported by the National Natural Science Foundation of China (No. 30871348, 30700470, 30890030 and 30890031) and Educational Department of Jiangxi Province (No. GJJ10303).
中文摘要:

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。

英文摘要:

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.

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期刊信息
  • 《基因组蛋白质组与生物信息学报:英文版》
  • 主管单位:中国科学院
  • 主办单位:中科院北京基因组研究所
  • 主编:
  • 地址:北京市朝阳区北土城西路7号中科院北京基因组研究所
  • 邮编:100029
  • 邮箱:editor@big.ac.cn
  • 电话:010-82995372
  • 国际标准刊号:ISSN:1672-0229
  • 国内统一刊号:ISSN:11-4926/Q
  • 邮发代号:82-557
  • 获奖情况:
  • 国内外数据库收录:
  • 俄罗斯文摘杂志,美国化学文摘(网络版),波兰哥白尼索引,荷兰文摘与引文数据库,荷兰医学文摘,美国生物医学检索系统,美国剑桥科学文摘,美国生物科学数据库
  • 被引量:52