SRY gene analysis for a case with sex reversal syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the molecular mechanism of sex reversal in a 46,XY female patient.</p><p><b>METHODS</b>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 .</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The sex reversal of the patient is probably due to abnormal embryonic development caused by the SRY gene mutation.</p>