目的：研究２例完全型睾丸女性化综合征（ＴＦＭ）患者的外阴部皮肤成纤维细胞（ＧＳＦ）中的雄激素受体（ＡＲ）。结果：发现两患者ＡＲ的数量无明显改变，但一患者的ＡＲ亲和力明显降低。用ＰＣＲ－ＳＳＣＰ（单链构象多态性）方法对两患者ＡＲ基因８个外显子中的７个（Ｂ－Ｈ）分别进行分析，发现两患者ＡＲ基因外显子Ｅ均存在着泳动变位，ＤＮＡ序列分析证实两患者外显子Ｅ各有一点突变，分别使得编码第７４３位和第７５２位的氨基酸发生了改变，后一突变还造成了一Ｓａｕ３ＡⅠ酶酶切位点的消失。结论：结合ＡＲ功能改变及临床表型可以认为，两患者的性分化发育异常是由于两位点的突变所致 OBJECTIVE: To study the androgen receptor (AR) in the genital skin fibroblasts (GSF) of two complete testicular feminized syndrome (TFM) patients. Results: There was no significant change in the number of ARs in both patients, but the AR affinity of one patient was significantly lower. The PCR-SSCP (single-strand conformation polymorphism) method was used to analyze 7 out of 8 exons of AR gene in two patients (B-H) respectively. There was a motile Alteration and DNA sequence analysis confirmed that each of the two patients had a slight mutation in exon E, which changed the amino acids at positions 743 and 752, respectively. The latter mutation also caused the disappearance of a Sau3A I enzyme digestion site. CONCLUSIONS: In combination with AR functional changes and clinical phenotype, it is believed that the abnormality in sexual differentiation between the two patients was due to a mutation at both sites