46，XX男性与SRY基因关系的临床分析  

The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene

作　　者：王岳平[1] 赵云静[1] 阮强[1] 吉耀华[1] 郝明革[1] 姜卫华[1] 

机构地区：[1]中国医科大学附属盛京医院遗传研究室,沈阳110004

出　　处：《中华医学遗传学杂志》2009年第1期95-97,共3页Chinese Journal of Medical Genetics

摘　　要：目的研究46，XX男性患者的临床表型与性别决定基困（sex determining region，SRY）的关系。方法应用多重聚合酶链反应（polymerase chain reaction，PCR）及PCR产物直接测序的方法，对6例46，XX男性患者的SRY基因进行分析。结果6例46，XX男性患者中3例SRY基因阳性，测序后无碱基序列变异，尤明显的生殖器官畸形；3例患者SRY基因阴性，仔在睾丸发育，但有明显的外生殖器官畸形。结论在性别决定与发育过程中，SRY基因是一个关键的基因，但是还应有其他的重要基因。Objective To investigate the relationship between the phenotypes in XX male patients and the sex determining region（SRY） gene. Methods Multiple polymerase chain reactions were carried out in 6 male patients with karyotype of 46, XX, and then the PCR products were sequenced directly. Results Three cases of male infertility were positive for the SRY gene without evident malformation in their extra genitalia, while 3 cases with testes were negative for the SRY gene, with evident malformation in their extra genitalia. Conclusion The SRY gene is key in sex determination and development, yet there might be other important genes involved.

关 键 词：性别发育异常 XX男性综合征 SRY基因 聚合酶链反应 

分 类 号：R686[医药卫生—骨科学]