2例睾丸女性化综合征患者雄激素受体基因中的突变

Mutations of the androgen receptor genes of two patients with testicular feminization syndrome

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。

AIM:The androgen receptors(AR) in cultured genital skin fibroblasts (GSF) from two patients with testicular feminization syndrome were determined.RESULTS:Amount of AR in the two GSF lines had no obvious change,but the AR binding affinity of one patient was significantly decreased.Using polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP),a useful screening method for rapid detection of DNA sequence alterations,and direct DNA double strands cycle sequencing,point mutations within exon E of the AR genes in the two patients were indentified,resulting in alterations of codons 743 and 752 respectively,the latter (codens 752) disappeared recognition sequence for the restriction endonuclease Sau 3A Ⅰ CONCLUSION:The AR structural changes resulting from these two substitutions were responsible for the abnormality of sex differentiation and development of this two patients.