[Detection of R277Q mutation of SRD5alpha2 gene by amplification refractory mutation system].

OBJECTIVE: To set up a simple method for identifying the mutation of R227Q of SRD5alpha2 gene which is one of the most common mutations in congenital hypospadias in China. METHODS: The amplification refractory mutation system(ARMS) was employed in detecting the SRD5alpha2 gene R227Q mutation in congenital hypospadias confirmed by PCR-SSCP and DNA sequencing. RESULTS: The ARMS was successfully applied to the detection of the R227Q mutation of SRD5alpha2 gene. Three out of 23 congenital hypospadias were positive for R227Q mutation. The mutations determined by ARMS were in full agreement with those obtained by the DNA sequencing. CONCLUSION: This is a simple, rapid and accurate method. It can be used for detecting the SRD5alpha2 gene R227Q mutation in congenital hypospadias and male pseudohermaphroditism.