性发育异常患者的SRY基因分析

Analysis of SRY gene in 12 cases with sexual abnormality.

应用PCR扩增及PCR产物直接测序对 12例性发育异常患者进行SRY基因检测 ,12例患者中 ,5例患者的社会性别与染色体性别不相符。 2例性反转患者SRY结果与染色体性别不一致 ,其他 10例SRY基因与染色体性别均一致 ,即存在Y染色体的患者 ,SRY为阳性 ;无Y染色体的患者 ,SRY为阴性。 4例确诊为性反转 ,2例为假两性畸形 ,其中 1例为肾上腺增生综合症 ,4例为核型与SRY基因未见异常但伴有性器官发育不良。上述结果提示 ,人类的性别决定可能是SRY基因为主导 ,一系列基因参与协调表达的调控串模式 ,而性别的分化则可能是由SRY决定性别后 ,在由其他因素参与共同完成的。SRY基因检测是诊断性别发育异常患者的重要手段。

Using PCR amplification and DNA sequencing techniques.we have analysed 12 cases of sexual abnormality.SRY gene was corresponding with chromosomal sex in 10 cases and wasn't in 2 sexual reversed cases.4 sexual reversed cases,2 hermaphrodities,4 cases with sexual organ dysplasia were diagnosed.There results suggested that SRY detection was an important method to diagnose sexual abnormalities.Sex was mainly determined by SRY,but normal sexual development may result from the functional and developmental integration of a number of different genes that play roles in determination,sexual differentiation,and sexual behavior.