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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。
Genomic DNA was amplified by using specific oligonucleotide primers of SRY gene 1, combined with single-strand conformation polymorphism analysis, silver staining and sex-determining region on Y (SRY) Significance of clinical diagnosis of abnormal patients. Results: Of the 5 patients, 2 cases of 46 and XX males showed the same specific amplification bands as males; 2 of 3 cases 46 and XY males had no male specific amplification bands, and 1 case showed amplification of the SRY gene fragment. The analysis of the strand conformation polymorphism revealed the same single-stranded banding pattern as the normal male amplified fragment. The hypothesis that the SRY gene is the key gene in male sex determination supports the hypothesis that the regulatory genes of SRY may be involved in synergism.