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对六例性反转综合征患者(3例XX男性)(3例XY女性)用Y-特异性DNA探针进行了Southern印迹杂交分析,并用PCR技术扩增了SRY基因部分序列。结果表明,1例XX男性缺乏源于Y染色体的杂交信号,也无SRY基因;其余2例XX男性和3例XY女性都检测到Yp-DNA序列和SRY基因。这对进一步阐明性反转综合征的病因和SRY基因的作用机制具有重要意义。
Southern blotting analysis was performed on Y-specific DNA probes in six patients with reversible syndrome (3 males XX males) (3 males with XY females), and partial sequences of the SRY gene were amplified by PCR. The results showed that one male with XX lacked the hybridization signal derived from Y chromosome and no SRY gene. The other two cases of XX males and three female XY males detected Yp-DNA sequence and SRY gene. This is further to clarify the cause of reversal syndrome and SRY gene mechanism of action is of great significance.