智力障碍患者的端粒外重排和拷贝数变异。
Subtelomeric rearrangements and copy number variations in people with intellectual disabilities.
机构信息
Morphology and Genetics Department, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
出版信息
J Intellect Disabil Res. 2010 Oct;54(10):938-42. doi: 10.1111/j.1365-2788.2010.01325.x. Epub 2010 Aug 30.
BACKGROUND
The most prevalent type of structural variation in the human genome is represented by copy number variations that can affect transcription levels, sequence, structure and function of genes.
METHOD
In the present study, we used the multiplex ligation-dependent probe amplification (MLPA) technique and quantitative PCR for the detection of copy number variation in 132 intellectually disabled male patients with normal karyotypes and negative fragile-X-testing.
RESULTS
Ten of these patients (7.6%) showed copy number variation in the subtelomeric regions, including deletions and duplications.
DISCUSSION
Duplications of the SECTM1 gene, located at 17q25.3, and of the FLJ22115 gene, located at 20p13, could be associated with phenotype alterations. This study highlights the relevance in the aetiology of intellectual disability of subtelomeric rearrangements that can be screened by MLPA and other molecular techniques.
背景
人类基因组中最常见的结构变异类型是拷贝数变异，它可以影响基因的转录水平、序列、结构和功能。
方法
在本研究中，我们使用多重连接依赖性探针扩增（MLPA）技术和定量 PCR 检测了 132 名核型正常且脆性 X 试验阴性的智力障碍男性患者的拷贝数变异。
结果
其中 10 名患者（7.6%）在端粒区域显示出拷贝数变异，包括缺失和重复。
讨论
位于 17q25.3 的 SECTM1 基因和位于 20p13 的 FLJ22115 基因的重复可能与表型改变有关。本研究强调了端粒重排在智力障碍发病机制中的相关性，这些重排可以通过 MLPA 和其他分子技术进行筛查。
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