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[SRY gene analysis for a case with sex reversal syndrome]
Yan Cai1, Zhi-ning Yang, Ming-hui Yang
1Department of Clinical Laboratory, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, People's Republic of China.
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.
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