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DNA Analysis of the Androgen Receptor Gene in Two Cases with Complete Androgen Insensitivity Syndrome
Author(s) -
Komori Shinji,
Sakata Kazuko,
Tanaka Hiroyuki,
Shima Hiroki,
Koyama Koji
Publication year - 1997
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/j.1447-0756.1997.tb00845.x
Subject(s) - complete androgen insensitivity syndrome , androgen receptor , androgen insensitivity syndrome , exon , androgen , mutation , medicine , rnf4 , gene , endocrinology , microbiology and biotechnology , biology , genetics , hormone , prostate cancer , cancer
Objective : Androgen insensitivity syndrome is an X‐linked disorder of sexual differentiation resulting from abnormalities of the androgen receptor gene. In this study, we analyzed the androgen receptor gene in 2 cases with complete androgen insensitivity syndrome (CAIS). Methods : DNAs were isolated from patients with CAIS, and the androgen receptor gene was amplified by a polymerase chain reaction. Sequence analysis of the androgen receptor gene was performed. Results : In Patient 1, one substitutional mutation [glutamine (CAA) to arginine (CGA) at position 194] was identified in exon A, and the premature termination of the androgen receptor gene was also demonstrated due to the deletion of one nucleotide at the codon in exon C (position 597). In Patient 2, one substitutional mutation [arginine (CGC) to cysteine (TGC) at position 855] in exon G was identified. This position was located in the hormone‐binding domain and appeared to be a hot spot of mutations because the mutations at the same position have been reported before in several unrelated cases. Conclusion : The results of this study suggest that these abnormalities might be related to the pathogenesis of complete androgen insensitivity syndrome.