[SRY gene analysis for a case with sex reversal syndrome].

OBJECTIVE: To investigate the molecular mechanism of sex reversal in a 46,XY female patient. METHODS: Clinical data was collected. Peripheral blood lymphocytes were cultured for G-banding chromosomal analysis and DNA extraction. Sex-determining region of Y-chromosome (SRY) gene was analyzed with polymerase chain reaction (PCR) and DNA sequencing . RESULTS: Although the patient has a female appearance, he has a karyotype of 46,XY. The SRY gene can be detected in all samples. The 6th base of SRY gene coding region was deleted, resulting in a frameshifting mutation and premature termination of protein translation. CONCLUSION: The sex reversal of the patient is probably due to abnormal embryonic development caused by the SRY gene mutation.