Cai Yan, Yang Zhi-ning, Yang Ming-hui, Liang Su-hua, Tang Zhong
Department of Clinical Laboratory, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Oct;29(5):573-5. doi: 10.3760/cma.j.issn.1003-9406.2012.05.016.
To investigate the molecular mechanism of sex reversal in a 46,XY female patient.
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 .
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.
The sex reversal of the patient is probably due to abnormal embryonic development caused by the SRY gene mutation.
探讨一名46,XY女性患者性反转的分子机制。
收集临床资料。培养外周血淋巴细胞进行G显带染色体分析和DNA提取。采用聚合酶链反应（PCR）和DNA测序分析Y染色体性别决定区（SRY）基因。
该患者虽外观为女性，但核型为46,XY。所有样本均可检测到SRY基因。SRY基因编码区第6位碱基缺失，导致移码突变和蛋白质翻译提前终止。
该患者的性反转可能是由于SRY基因突变导致胚胎发育异常所致。
