[运用多重连接依赖探针扩增技术检测智力发育迟缓患者的基因异常]
[Detection of the genetic abnormalities in patients with mental retardation using multiplex ligation-dependent probe amplification assay].
作者信息
Zhu Lina, Wang Chunzhi, Yang Xiao, Wang Yan, Liu Xin, He Xiyu
机构信息
Center of Clinical Genetics, Affiliated Bayi Children's General Hospital of Beijing Command, PLA, Beijing, 100700 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):644-7. doi: 10.3760/cma.j.issn.1003-9406.2009.06.008.
OBJECTIVE
To investigate the relationship between subtelomeric rearrangements and idiopathic mental retardation (MR).
METHODS
Thirty unrelated patients were recruited using strict selection criteria. Patients were screened by multiplex ligation-dependent probe amplification (MLPA) for subtelomeric imbalance.
RESULTS
Five subtelomeric deletions/duplications were identified. They were: 4p deletion, 21p duplication, 10p duplication combined with 4p deletion, 15p duplication, and 9p deletion combined with 3p duplication. These subtelomeric rearrangements were previously unidentified by conventional technique.
CONCLUSION
Children with unexplained mental retardation are related with subtelomeric rearrangements. MLPA is a rapid and an effective technique for detecting genetic abnormalities in patients with idiopathic MR.
目的
研究亚端粒重排与特发性智力障碍（MR）之间的关系。
方法
采用严格的选择标准招募30名无亲缘关系的患者。通过多重连接依赖探针扩增（MLPA）对患者进行亚端粒失衡筛查。
结果
鉴定出5种亚端粒缺失/重复。它们分别是：4p缺失、21p重复、10p重复合并4p缺失、15p重复、9p缺失合并3p重复。这些亚端粒重排以前通过传统技术未被识别。
结论
不明原因智力障碍儿童与亚端粒重排有关。MLPA是检测特发性MR患者基因异常的一种快速有效的技术。
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