Constitutive heterochromatin polymorphisms in human chromosomes identified by whole comparative genomic hybridization
Constitutive heterochromatin polymorphisms in human chromosomes identified by whole comparative genomic hybridization
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DOI：
10.4081/ejh.2011.e28
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发表时间：
2011-01-01
影响因子：
2
通讯作者：
Gosalvez, J.
中科院分区：
文献类型：
--
作者：
Davila-Rodriguez, M. I.;Cortes Gutierrez, E. I.;Gosalvez, J.
全比较基因组杂交（Whole comparative genomic hybridization，W-CGH）是一种新的技术，它利用中期或间期染色体比较不同的基因组，揭示高度重复的DNA序列中隐藏的差异。W-CGH提供了一种快速的方法来确定这些DNA序列在整个基因组中的单染色体水平上的差异扩增。在这项研究中，我们已经确定了组成性染色质多态性的频率在人类染色体的着丝粒区域使用全基因组原位交叉杂交方法比较全基因组的五个不同的无关个体。结果表明，在位于第6号染色体着丝粒周围区域的重复DNA家族中，着丝粒周围组成型异染色质具有较高的多态性发生率。第5号和第9号染色体的组成型异染色质也被鉴定为高度多态性。虽然需要进一步研究来证实和评估这些多态性在人群中的总体发生率，但从染色体的角度来看，使用W-CGH可能具有相关性和临床相关性，可以快速评估密切相关基因组（如亲属的基因组）的基因组相似性和差异，或在更具体的情况下，如骨髓移植，其中受体中产生嵌合体。
Whole comparative genomic hybridization (W-CGH) is a new technique that reveals cryptic differences in highly repetitive DNA sequences, when different genomes are compared using metaphase or interphase chromosomes. W-CGH provides a quick approach to identify differential expansion of these DNA sequences at the single-chromosome level in the whole genome. In this study, we have determined the frequency of constitutive chromatin polymorphisms in the centromeric regions of human chromosomes using a whole-genome in situ cross-hybridization method to compare the whole genome of five different unrelated individuals. Results showed that the pericentromeric constitutive heterochromatin of chromosome 6 exhibited a high incidence of polymorphisms in repetitive DNA families located in pericentromeric regions. The constitutive heterochromatin of chromosomes 5 and 9 was also identified as highly polymorphic. Although further studies are necessary to corroborate and assess the overall incidence of these polymorphisms in human populations, the use of W-CGH could be pertinent and of clinical relevance to assess rapidly, from a chromosomal viewpoint, genome similarities and differences in closely related genomes such as those of relatives, or in more specific situations such as bone marrow transplantation where chimerism is produced in the recipient.