摘要
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 analyze the candidate genes （ ALDOA, TBX6, CYFP1, NDE1 ） on 16p11.2, 16p13.11, 15q11.2 related closely with 265 inexpained mental retardation patients. Methods ： G - banding karyotype analysis and Multiplex ligation - de- pendet probe amplification were used for genetic screening; multiple PCR was set up to analyze the genetic cause of inexpained mental retaration. Result： Of 265 inexpained mental retardation patients, one abnormal case with gene Nde1 . Conclusion： The multiplex PCR screening for candidate genes with intellectual disabilities was proved to be a simple, economical method. The construction of the reasonable diagnosis system of the heritage mental retardation paly significance in researching the pathogenisis of the mental retardation.
出处
《中国优生与遗传杂志》
2012年第11期34-36,43,共4页
Chinese Journal of Birth Health & Heredity
基金
全军"十一五"课题(06MB074)
关键词
智力障碍
染色体
亚端粒
多重PCR
Mental retardation
Chromosome
Subtelomere
Multiplex PCR
