46,XY女性患者SRY基因启动子区域的突变分析

大约15%的46,XY女性患者中发现SRY基因编码区突变,其他患者可能是SRY基因的调节区, 包括启动子区域发生了突变,或者其他相关基因发生突变所致。本文采用限制性酶切、PCR-SSCP及银染检测技术,对7例患者SRY基因的启动子区域进行了突变筛查, 结果未发现异常,提示这些患者的病因与SRY基因启动子区域本身无关,结合对患者SRY基因HMG基序DNA的突变分析结果,表明除SRY基因异常外还存在其他导致46,XY女性性反转综合征的遗传机制。 Abstract:Using restriction endonuelease digestion and PCR-SSCP with silver staining,we analyzed the promotor region of SRY gene in seven 46,XY femalcs.The results showed no abnormality,thus ruling out the mutations in the promotor region of the SRY gene as a possible cause of sex reversal in these XY females.In view with the absence of the mutations in the HMG regions of the SRY genes of several patients,it is suggested that SRY gene is not the only gene responsible for testicular development but is one of many hierarchical genes involved in a genetic cascade for sexual differentiation.

Mutational Analysis of the Promotor Region of SRY Gene in 46, XY Females

Using restrietion endonuelease digestion and PCR- SSCP with silver staining, we analyzed the promotor region of SRY gene in seven 46, XY females. The results showed no abnormality, thus ruling out the mutations in the promotor region of the SRY gene as a possible cause of sex reversal in these XY females. In view with the absenee of the mutations in the HMG regions of the SRY genes of several patients,it is suggested that SRY gene is not the only gene responsible for testieular development but is one of many hicrarchical genes involved in a genetic easeadc for sexual differentiation.