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目的：探讨睾丸女性化（ＴＦＭ）综合征发病的分子机理。方法：运用聚合酶链式反应－单链构象多态性（ＰＣＲ－ＳＳＣＰ）分析结合双链ＤＮＡ循环测序法，对７例ＴＦＭ患者的雄激素受体（ＡＲ）基因外显子Ｂ～Ｈ进行突变检测。结果：发现３例患者分别在ＡＲ基因外显子Ｅ或Ｇ有错义突变，导致ＡＲ雄激素结合区（ＡＢＤ）氨基酸的改变。还有１例患者外显子Ｇ在行ＳＳＣＰ分析时有泳动变位，强烈提示有突变，目前正在进一步做序列分析。其余３例患者外显子Ｂ～Ｈ行ＳＳＣＰ分析未见有异常。结论：ＡＲ基因突变是导致ＴＦＭ的主要原因，本研究结果还为ＡＲ结构与功能关系的研究提供了有价值的资料。
Objective: To explore the molecular mechanism of testicular feminization (TFM) syndrome. Methods: The exon B ~ H of androgen receptor (AR) gene in 7 patients with TFM were studied by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with double stranded DNA cycle sequencing Mutation detection. RESULTS: Three patients were found to have a missense mutation in exon E or G of AR gene respectively, resulting in the alteration of amino acids in AR androgen binding domain (ABD). In another patient, exon G had a motile shift in SSCP analysis, strongly suggesting a mutation, and further sequence analysis is currently underway. The remaining 3 cases of exon B ~ H line SSCP analysis showed no abnormalities. Conclusion: AR gene mutation is the main reason leading to TFM. The results of this study also provide valuable information for the relationship between AR structure and function.