用RT-PCR技术分析脆性X男性患者的FMR-1基因的表达

ANALYSIS OF EXPRESSION OF FMR 1 GENE IN MALE PATIENTS WITH FRAGILE X SYNDROME USING RT PCR

目的为探讨脆性Ｘ男性患者与ＦＭＲ－１基因表达之间的关系，从而建立一种快速、简单且适合于筛查群体中男性患者的方法。方法采用ＲＴ－ＰＣＲ技术，对两个经细胞遗传学方法证实的脆性Ｘ家系进行检测。结果两个脆性Ｘ家系中的男性患者均无ＦＭＲ－１基因的表达，其父母均有ＦＭＲ－１基因表达，所有被检个体均有内对照基因ＨＰＲＴ的表达。结论ＦＭＲ－１基因表达缺失与脆性Ｘ男性患者的发病有一定关系。这一方法的进一步研究，将使脆性Ｘ男性患者的诊断方法更加简单、快速，有可能用于大规模群体筛查。

Objective To search the relationship between Fragile X male patients and expression of FMR 1 gene and to establish a rapid and simple method for screening male patients in general population.Methods Two typical fragile X families demonstrated by cytogenetics method were analyzed by using RT PCR.Results No expression of FMR 1 gene in all male patients in the two families was noted,but all normal individuals showed expression of FMR 1 gene.There was an expression of HPRT gene as internal control in each of the individuals detected. Conclusion There is a strong relationship between loss of expression of FMR 1 gene and clinical phenotype of the fragile X male patients.Further research of this method will introduce a more simple and rapid method for detecting male patients with fragile X syndrome.This method may be used for general population screening.