Objective: To explore possible molecular mechanism of hypospadias and relationship of the mutation of SRD5A2 gene to hypospadias.
Methods: 96 blood samples from the patients with hypospadias were obtained and DNA was extracted from blood leukocytes. Polymerase chain reaction and direct sequencing were performed to analyze the coding regions of SRD5A2 gene.
Results: 8 mutations were detected from 14 cases, including 5 missense mutations, 1 synonymous mutation, 1 nonsense mutation and 1 frameshift mutation. The mutations are in 1st, 4th and 5th exon. Gln6stop, His232His, Phe234Leu and frameshift mutations are novel.
Conclusions: Exon 4 is a hot spot region of mutation within SRD5A2 gene, and about 10 percent of hypospadiac patients complicated with SRD5A2 dysfunction or deficiency.