【摘要】 应用ＳＲＹ基因编码区１对特异寡核苷酸引物进行基因组ＤＮＡ扩增，结合单链构象多态性分析，银染显色，探讨性别决定基因（ｓｅｘ－ｄｅｔｅｒｍｉｎｉｎｇ ｒｅｇｉｏｎ ｏｎ Ｙ， ＳＲＹ）对性发育异常患者临床诊断的意义。结果：５例患者中，２例４６，ＸＸ男性显示与男性相同的特异扩增带；３例４６，ＸＹ女性中２例无男性特异扩增带，１例显示ＳＲＹ基因片段扩增，经单链构象多态性分析，显示与正常男性扩增片段相同的单链泳动带型。支持ＳＲＹ基因是男性性别决定的关键基因的假说，提示ＳＲＹ基因的调节基因等可能参与协同作用。更多还原

【Abstract】 To investigate the clinical implication of the sex determining region on Y (SRY) gene in the diagnosis of sexual abnomality, amplification of SRY sequences of 5 cases of sexual abnormality was carried out by using polymerase chain reaction followed by single strand conformation polymorphism analysis. The result revealed that among the 5 cases, two 46,XX males showed a SRY -specific 300bp band as normal male control. Among the 3 46,XY females, 2 had no male specific band, one showed a 300bp band, which displayed a normal single strand mobility by PCR-SSCP. The results further supported the hypothesis that SRY gene plays an important role in normal male sex differentiation, suggesting regulatory sequences of SRY or other genes are probably involved in the genetic mechanisms of sex determination and differentiation.更多还原