性分化及发育异常患者的SRY基因分析

SRY gene in abnormalities of sexual differentiation and development

采用ＰＣＲ、ＰＣＲ－ＳＳＣＰ，包括限制性酶切－ＳＳＣＰ、以及ＤＮＡ序列分析等现代分子生物学技术，对１９例多种性分化及发育异常患者的ＳＲＹ基因结构，包括其启动子区域，进行了较为系统的研究，初步分析和探讨了ＳＲＹ基因异常与ＸＸ男性及ＸＹ女性性反转综合征、ＸＸ和ＸＹ真两性畸形、Ｔｕｒｎｅｒ综合征及其他部分性腺发育不全之间的病因学关系，并获得了有意义的结果。

Some abnormalities of sex differentiation were studied by means of polymerase chain reaction, single strand conformational polymorphism and DNA sequencing. The result indicated that the SRY gene was not the sole factor in testicular development. being one of many hierarchical genes involved in a genetic cascade for sexual differentiation, which also showed clinical and genetic heterogenecity of abnoimal sexual differentiation.