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首页> 外文期刊>European Journal of Histochemistry >Constitutive heterochromatin polymorphisms in human chromosomes identified by whole comparative genomic hybridization
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Constitutive heterochromatin polymorphisms in human chromosomes identified by whole comparative genomic hybridization

机译：通过整体比较基因组杂交鉴定人染色体的本构异染色质多态性

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摘要

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.
机译：整体比较基因组杂交（W-CGH）是一项新技术，当使用中期或相间染色体比较不同的基因组时，可揭示高度重复的DNA序列之间的密码学差异。 W-CGH提供了一种快速的方法来鉴定整个基因组中单染色体水平上这些DNA序列的差异扩增。在这项研究中，我们已经确定了使用全基因组原位交叉杂交方法比较五个不同无关个体的整个基因组的人类染色体着丝粒区域组成型染色质多态性的频率。结果表明，第6号染色体的着丝粒体组成型异染色质在着丝粒体区域的重复DNA家族中表现出高的多态性。染色体5和9的组成型异染色质也被鉴定为高度多态性。尽管需要进一步的研究来确证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可能是适当的，并且具有临床意义，可以从染色体的角度快速评估基因组的相似性和密切相关的基因组之间的差异。 （例如亲戚），或在较特殊的情况下（例如在接受者产生嵌合现象的骨髓移植）。

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