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智力低下儿童X染色体脆性位点及FMR1基因突变的研究
引用本文:陈冬萍,曾素芬,张素贞. 智力低下儿童X染色体脆性位点及FMR1基因突变的研究[J]. 中国优生与遗传杂志, 2014, 0(1): 32-32,132
作者姓名:陈冬萍  曾素芬  张素贞
作者单位:广东省东莞市太平人民医院中心实验室,523905
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FMRl(Fragile X mental retardation gene1)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FMRl基因突变。结论MR患儿可与表型正常的父母有同-X染色体脆性位点,但FMRl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。

关 键 词:智力低下  X染色体脆性位点  FMRl

Study on X chromosome fragile site and FMRl gene mutation in children with metal retardation
Affiliation:CHEN Dong - ping,ZENG Su -fen, ZHANG Su - zheng. ( Dongguan Taiping People& Hospital Central Laboratory, 523905 )
Abstract: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.
Keywords:Mental Retardation  X chromosome fragile site  Fragile X mental retardation gene 1
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