Xi Chun-Yan, Lu Yao, Tan Ying-Hua, Hua Tian-Yi, Zhao Yun-Jing, Liu Xiao-Mei, Gao Hong
Department of Developmental Pediatrics, Shengjing Hospital, China Medical University, Shenyang, China.
J Child Neurol. 2011 May;26(5):570-3. doi: 10.1177/0883073810387138.
Autism is a severe neurodevelopmental disorder with a strong genetic basis.The methyl-CpG binding protein 2 gene (MECP2) is a dosage-sensitive gene in brain development and has been implicated as a candidate gene for autism. Duplication of the MECP2 gene has been reported in a few boys with autistic features. To further investigate the association of MECP2 duplication with autism, the authors performed real-time quantitative polymerase chain reaction (PCR) to detect copy number variations of the MECP2 gene in 82 autistic boys. No copy number variation was found in these patients, indicating that duplication of the MECP2 gene is not frequent in autistic patients. The authors consider that duplication of the MECP2 gene has no major effect on the susceptibility to autism. Replication of studies in a large-sized sample and a well-characterized subgroup of autism are warranted to further identify the association of MECP2 gene duplication with autism.
自闭症是一种具有强大遗传基础的严重神经发育障碍。甲基-CpG结合蛋白2基因（MECP2）是大脑发育中的一个剂量敏感基因，并且已被认为是自闭症的候选基因。在一些具有自闭症特征的男孩中已报道有MECP2基因重复。为了进一步研究MECP2重复与自闭症的关联，作者进行了实时定量聚合酶链反应（PCR）以检测82名自闭症男孩中MECP2基因的拷贝数变异。在这些患者中未发现拷贝数变异，这表明MECP2基因重复在自闭症患者中并不常见。作者认为MECP2基因重复对自闭症易感性没有主要影响。有必要在大样本和特征明确的自闭症亚组中重复进行研究，以进一步确定MECP2基因重复与自闭症的关联。
