[Analysis of expression of FMR-1 gene in male patients with fragile X syndrome using RT-PCR].

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.