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Journal of Applied Genetics 43(1), 2002, pp. 109-114

Transition C2718T in the AR gene, resulting in generation of a termination codon and truncated form of the androgen receptor, causes complete androgen insensitivity syndrome

Monika IGNACAK, Marek NIEDZIELA, Wieslaw H. TRZECIAK


Abstract: The action of testosterone and 5a-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.

Key words: AR gene, C2718T transition, CAIS, R786X mutation, truncated receptor.

Correspondence: W.H. TRZECIAK, Department of Biochemistry and Molecular Biology, University of Medical Sciences, ul. Swiecickiego 6, 60-781 Poznan, Poland, e-mail: trzeciak@am.poznan.pl

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