智力低下儿童X染色体脆性位点及FMR1基因突变的研究  

Study on X chromosome fragile site and FMR1 gene mutation in children with metal retardation

作　　者：陈冬萍[1] 曾素芬[1] 张素贞[1] 

机构地区：[1]广东省东莞市太平人民医院中心实验室,523905

出　　处：《中国优生与遗传杂志》2014年第1期32-32,132,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨智力低下(Mental Retardation,MR)儿童染色体遗传学原因。方法选择智力低下患儿及其父母作为研究对象,采用细胞遗传学方法检测X染色体脆性位点,以及采用多重连接探针扩增(Multiplex ligation-dependent Probe Amplificaton,MLPA)技术分析FMR1(Fragile X mental retardation gene 1)基因的缺失与重复。结果 266例患儿共查出X脆性综合征18例,与父母同一脆性位点的7例,其中6例为FMR1基因突变。结论 MR患儿可与表型正常的父母有同一X染色体脆性位点,但FMR1基因突变是X脆性综合征(Fragile X syndrome,Fra X)临床表型的真正原因。Objective： To explore the genetic reasons of metally retarded children. Methods： Xq27 fragile site and FMR1 gene mutation were examined by cytogenetics and MLPA respectively. Results： We detected 18 children with Fra （X）, and found out 7 children had the same fragile site with their parents, in those 6 had FMR1 gene mutation. Conclusions： MR children have the same fragile site in X chromosome with their parents, but FMR1 gene mutation is the primary cause for fragile X syndrome.

关 键 词：智力低下 X染色体脆性位点 FMR1 

分 类 号：R725.9[医药卫生—儿科]