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首页> 外文期刊>Genomics >Genomic organization and evolution of the NF1 microdeletion region.
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Genomic organization and evolution of the NF1 microdeletion region.

机译：NF1微缺失区的基因组组织和进化。

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Five to 10% of neurofibromatosis type 1 (NF1) individuals have a microdeletion (1.5 Mb) encompassing the entire NF1 region and neighboring genes. Microdeletion patients have a distinct phenotype with a more severe tumor burden. Most of the microdeletion breakpoints cluster in flanking paralogous regions (NF1REPs). We describe the complete genomic region covering the NF1 microdeletion and an extensive analysis of the genomic and transcriptional organization of the NF1REPs. The flanking NF1REPs have a total length of about 75 kb and are composed of several fragments. One of these fragments originated from chromosome 19 and contains a hot spot for microdeletion breakpoints. The analysis of the genomic organization of the NF1 microdeletion region and of the NF1REPs in particular is important for understanding the mechanism by which NF1 microdeletions are formed. This analysis will also help to identify loci potentially involved in the pathogenesis of the increased tumor load and malignancy risk observed inNF1 microdeletion patients.
机译：5至10％的1型神经纤维瘤病个体具有微缺失（1.5 Mb），涵盖整个NF1区和邻近基因。微缺失患者具有明显的表型和更严重的肿瘤负担。大多数微缺失断点聚集在侧翼旁系同源区（NF1REPs）中。我们描述了覆盖NF1微缺失的完整基因组区域以及NF1REPs的基因组和转录组织的广泛分析。侧翼的NF1REP全长约75 kb，由几个片段组成。这些片段之一起源于19号染色体，并包含一个微缺失断点的热点。 NF1微缺失区和NF1REPs的基因组组织分析对于理解NF1微缺失形成的机理尤其重要。这项分析还将有助于确定潜在参与在NF1微缺失患者中观察到的增加的肿瘤负荷和恶性肿瘤发病机制的基因座。

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