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目的对265例不明原因智力障碍拷贝数变异高发区16p11.2、16p13.11、15q11.2的四个智障候选基因AL-DOA、TBX6、CYFP1、Nde1进行探索性遗传学分析。方法结合G-显带染色体核型分析与多重连接依赖性探针扩增技术筛出不明原因智力障碍患者,并建立多重PCR对不明原因智障患者进行遗传学病因分析。结果 265例不明原因智力障碍病例中发现1例基因Nde1基因拷贝数缺失。结论本文建立的多重PCR检测基因突变的方法简便、经济,可对不明原因智力障碍患者进行智障高发突变基因进行初步遗传学筛查,为深入研究先天性智力障碍病因机制奠定了基础。
OBJECTIVE: To explore the genetics of AL-DOA, TBX6, CYFP1 and Nde1 among the four mental retardation candidate genes of 16p11.2, 16p13.11 and 15q11.2 with high copy number variations of unknown deformity. Methods G-banding karyotype analysis and multiplexed connection-dependent probe amplification were used to screen out patients with mental disorders of unknown origin. Multiple genomic PCR was performed to analyze the genetics of patients with unknown causes of mental retardation. Results One case of Nde1 gene deletion was found in 265 cases of unknown mental retardation. Conclusion The method of multiplex PCR for detection of gene mutations established in this paper is simple and economical. It can be used for preliminary genetic screening of patients with mental retardation in patients with mental disorders of unknown reason, which lays the foundation for further study on the etiopathogenisis of congenital mental disorders.