精神发育迟滞患者的X染色体脆性位点和FMR-1基因突变的研究

A study on X chromosome fragile site and FMR-1 gene mutation in mentally retarded children.

目的探讨精神发育迟滞患者病因的检测方法。方法采用细胞遗传学方法检测Ｘｑ２７脆性位点，利用ＰＣＲ法检测ＦＭＲ－１基因突变。结果１０８８名精神发育迟滞患者中有１１２名为脆性Ｘ综合征［Ｆｒａ（Ｘ）］患者，９７％的Ｆｒａ（Ｘ）有ＦＭＲ－１基因突变。结论细胞遗传学方法和ＰＣＲ法结合运用。

Objective To explore the methods which finds the aetiology of mentally retarded children. Mehtods Xq27 fragile site and FMR-1 gene mutation were examined by cytogenetic and PCR method respectively. Results Among 1088 cases of mentally retarded children,112 fragile X syndrome were found.It was found that 97% of them were FMR-1 gene mutation sufferers. Conclusions The combination of FMR-1 gene mutation by PCR and cytogenetic analysis of fragile site is a effective approach to diagnose fragile X syndrome.