多重连接探针扩增检测Williams综合征微缺失  

Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification

作　　者：彭园园[1] 孟岩[1,2] 邱正庆[2] 王鸥[3] 黄尚志[1] 

机构地区：[1]中国医学科学院基础医学研究所医学遗传学系,北京协和医学院基础学院,WHO遗传病社区控制合作中心,北京100005 [2]北京协和医院儿科遗传门诊 [3]北京协和医院内分泌科

出　　处：《中华医学遗传学杂志》2009年第4期369-373,共5页Chinese Journal of Medical Genetics

基　　金：北京市科学技术委员会研发攻关类基金（D0906005040491）;国家“十一五”科技支撑计划项目（2006BAI05A08）

摘　　要：目的建立多重连接探针扩增（multiplex ligation—dependent probe amplification，MLPA）技术，对Willams综合征进行快捷的临床诊断。方法针对Williams综合征常见缺失区域的基因自行设计探针，采用MLPA技术对两例疑似Williams综合征患者进行微缺失检测。结果分析阳性者进行缺失区域的短串联重复多态性位点分析予以验证。结果MLPA检测显示两患者均存在7号染色体上的多个待检基因的微缺失，经多态性位点连锁分析验证后，均为涉及母源性基因缺失。结论MLPA是一种简便快速检测缺失及重复突变的方法，该技术弥补了荧光原位杂交技术的不足，可用于实验室对Williams综合征的快速检测，具有一定临床诊断价值。Objective To establish a method of multiplex ligation-dependent probe amplification （MLPA） for clinical screening of Williams syndrome （WS） and for routine use in WS diagnosis. Methods Probes for MLPA were designed according to the frequent deletion regions, and used to screen the two patients suspected with Williams syndrome, and the density of the bands were analyzed with software. Linkage analysis using polymorphic markers was performed to confirm the positive result of MLPA. Results The MLPA data indicated that the two children had possible microdeletions in the WS critical region. The deletions were confirmed and both were maternal origin by polymorphism analysis. Conclusion MLPA is a quick and convenient method for detecting deletion or duplication mutations. It can provide reliable and helpful information for clinical diagnose of Williams syndrome.

关 键 词：多重连接探针扩增 WILLIAMS综合征 微缺失 多态性标记 

分 类 号：R686[医药卫生—骨科学]