Li Mei-rong, Wang Xiao-zhu, Yang Yan-ling, Zhang Yue-hua, Xiong Hui, Bao Xin-hua, Zhong Nan, Wu Xi-ru, Pan Hong
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Zhonghua Yi Xue Za Zhi. 2009 Nov 3;89(40):2839-42.
To study the rate of subtelomeric rearrangements in patients with idiopathic mental retardation (MR) and to search the cause of MR.
DNA was extracted and purified from peripheral blood leukocytes of 180 patients with idiopathic MR. DNA was tested using specific subtelomeric multiplex ligation-dependent probe amplification (MLPA) kits P036B/C and P070 according to manufacturer's instructions. The amplification products were separated by capillary electrophoresis using an ABI 3100 automated sequencer and size standard. MLPA data were extracted by GeneScan Analysis software. Data normalization and analysis were performed with the built-in MLPA application in GeneMarker.
Among 180 patients with idiopathic MR, 12 had pathological subtelomeric deletions including 3 cases with a 4p deletion, 2 cases with a deletion at 9q and 22q respectively, 1 case with a deletion at 1p, 7p, 8p, 9q and 12q respectively. Subtelomeric rearrangements were responsible for 7% cases of idiopathic mental retardation.
Subtelomeric rearrangement is a common cause of idiopathic mental retardation.
研究特发性智力低下（MR）患者的亚端粒重排发生率，并探寻MR的病因。
从180例特发性MR患者的外周血白细胞中提取并纯化DNA。根据制造商的说明，使用特定的亚端粒多重连接依赖探针扩增（MLPA）试剂盒P036B/C和P070对DNA进行检测。扩增产物通过ABI 3100自动测序仪和大小标准品进行毛细管电泳分离。MLPA数据由GeneScan分析软件提取。使用GeneMarker中的内置MLPA应用程序进行数据归一化和分析。
在180例特发性MR患者中，12例存在病理性亚端粒缺失，其中3例为4p缺失，2例分别为9q和22q缺失，1例分别为1p、7p、8p、9q和12q缺失。亚端粒重排导致7%的特发性智力低下病例。
亚端粒重排是特发性智力低下的常见病因。
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