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目的探讨先天性智力低下与脆性X综合征智力低下基因1(Fragile X mental retardation gene 1 , FMR-1)关系。方法应用复式PCR一次性扩增FMR-1基因的(CGG)n的重复区,检测CGG重复序列的大小,分析FMR-1基因状态:正常、前突变、全突变,对脆性X综合征可疑患儿进行快速筛查。结果在253例不明原因的先天性智力低下患儿中,检出脆性X综合征携带者(FMR-1基因前突变者)14例(2男12女),脆性X综合征患者(FMR-1基因全突变者)9例,阳性率达9.09%。结论脆性X综合征是引起儿童先天性智力低下的重要病因之一,应对不明原因的智力低下儿童进行大面积筛查,尤其是对有智力低下家族史的孕妇进行产前筛查,防止患儿出生。
Objective To investigate the relationship between congenital mental retardation and Fragile X mental retardation gene 1 (FMR-1). Methods Duplicate PCR was used to amplify the repeat region of (CGG) n in FMR-1 gene. The size of CGG repeats was detected and the status of FMR-1 gene was analyzed: normal, pre-mutation and total mutation. Susceptible to Fragile X syndrome Children for rapid screening. Results Among 253 children with congenital mental retardation of unknown origin, 14 patients (12 males and 12 females) with fragile X syndrome (FMR-1 gene mutation) were detected in patients with fragile X syndrome (FMR-1 Gene mutation) in 9 cases, the positive rate of 9.09%. Conclusions Fragile X syndrome is one of the important causes of congenital mental retardation in children. Screening of children with mental retardation of unknown reason should be conducted in large scale, especially for prenatal screening of pregnant women with a low family history of mental retardation Born