三种性分化异常综合征患者的SRY基因检测

目的 探讨K1inefelter综合征、46，XY女性性反转综合征和Turner综合征患者是否存在SRY基因，进一步了解SRY基因在性分化中的作用。方法 用SRY特异性引物通过PCR方法检测三种性分化异常患者外周血淋巴细胞SRY基因。结果 7例Klinefelter综合征患者有1例未测出SRY基因，6例SRY基因阳性；3例46，XY女性综合征患者SRY基因均阳性；7例Turner综合征患者SRY基因皆阴性。结论 SRY基因是睾丸分化和发育的关键基因，但正常男女性分化还需要其他基因或因素的作用。

Detection of SRY gene in the patients of three kinds of abnormal sex-differentiation syndrome

Objective To study in the action of SRY gene in the sex differentiation of the patients with klinefelter syndrome,XY female syndrome and Turner syndrome.Methods SRY gene of the patients with three kinds of abnormal sex differentiation were detected by PCR using specific primer.Results In 7 patients of klinefilter syndrome,6 were positive,while 1 was negative;3 cases of XY female syndrome were all positive and 7 patients with Turner syndrome were all negative.Conclusions Although SRY gene was the key gene in the process of the differentiation and development of testis,there were other gene or factors important in the process of normal human sex differentiation.