Title: DNA Analysis of the Androgen Receptor Gene in Two Cases with Complete Androgen Insensitivity Syndrome
Abstract: Abstract 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.
Publication Year: 1997
Publication Date: 1997-06-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 5
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot