Ignacak Monika, Niedziela Marek, Trzeciak Wiesław H
Department of Biochemistry and Molecular Biology, Karol Marcinkowski University of Medical Sciences, Poznań, Poland.
J Appl Genet. 2002;43(1):109-14.
The action of testosterone and 5 alpha-dihydrotestosterone are essential to the development of the male phenotype. Patients with karyotype 46,XY, resistant to these hormones, exhibit a wide spectrum of phenotypes: from phenotypic female, through a range of incomplete masculinization, to under-virilized, infertile man. These disturbances are caused by mutations in the androgen receptor gene (AR). We studied a 46,XY fenotypic female with typical symptoms of Complete Androgen Insensitivity Syndrome (CAIS). Multiple temperature single-stranded conformation polymorphism (MSSCP) and sequence analysis of exon 6 of the AR gene in a patient revealed a C2718T transition causing R786X mutation in the loop between helices VII and VIII of the LBD of the androgen receptor. The R786X mutation has been described in a patient with CAIS only once and no such mutations have been described in Eastern Europe.
睾酮和5α-二氢睾酮的作用对于男性表型的发育至关重要。核型为46,XY的患者若对这些激素产生抵抗，会表现出广泛的表型：从表型女性，经过一系列不完全男性化，到男性化不足、不育的男性。这些紊乱是由雄激素受体基因（AR）的突变引起的。我们研究了一名具有完全雄激素不敏感综合征（CAIS）典型症状的46,XY表型女性。对患者AR基因外显子6进行多重温度单链构象多态性（MSSCP）和序列分析，发现一个C2718T转换，导致雄激素受体LBD的螺旋VII和VIII之间的环中出现R786X突变。R786X突变仅在一名CAIS患者中被描述过一次，在东欧尚未有此类突变的报道。
