Komori S, Kasumi H, Sakata K, Tanaka H, Hamada K, Koyama K
Department of Obstetrics and Gynecology, Hyogo College of Medicine, Japan.
Arch Gynecol Obstet. 1998;261(2):95-100. doi: 10.1007/s004040050206.
Androgen insensitivity syndromes are due to defects in the androgen receptor gene. In this study, we analyzed the androgen receptor gene in four cases with complete androgen insensitivity syndrome. In patient 1, one substitutional mutation [arginine (codon CGC) to cysteine (codon TGC) at position 774] of exon F was identified. This position was located in the hormone binding domain and appeared to be one hot spot of mutations because the mutations at the same position in several unrelated cases were reported before. In patient 2, one substitutional mutation [tyrosine (codon TAT) to cysteine (codon TGT) at position 571] of exon B was identified. This position was located in the DNA binding domain. In patients 3 and 4 (siblings), one substitutional mutation [arginine (codon CGA) to glutamine (codon CAA) at position 752] of exon E was identified. Taken together, these abnormalities might be related to the pathogenesis of complete androgen insensitivity.
雄激素不敏感综合征是由雄激素受体基因缺陷引起的。在本研究中，我们分析了4例完全性雄激素不敏感综合征患者的雄激素受体基因。在患者1中，在外显子F的第774位发现了一个替换突变[精氨酸（密码子CGC）突变为半胱氨酸（密码子TGC）]。该位置位于激素结合域，似乎是一个突变热点，因为之前报道过几例无关病例在相同位置发生了突变。在患者2中，在外显子B的第571位发现了一个替换突变[酪氨酸（密码子TAT）突变为半胱氨酸（密码子TGT）]。该位置位于DNA结合域。在患者3和4（兄妹）中，在外显子E的第752位发现了一个替换突变[精氨酸（密码子CGA）突变为谷氨酰胺（密码子CAA）]。综上所述，这些异常可能与完全性雄激素不敏感的发病机制有关。
