Sequence of the Intron/Exon Junctions of the Coding Region of the Human Androgen Receptor Gene and Identification of a Point Mutation in a Family with Complete Androgen Insensitivity

The study investigated the androgen receptor (AR) gene in a family with complete androgen insensitivity syndrome, focusing on the intron/exon junctions of the coding region. Researchers identified a point mutation in exon G of the AR gene, where a guanine to adenine substitution led to the replacement of valine with methionine at amino acid residue 866. This mutation was associated with reduced binding affinity for dihydrotestosterone, despite normal binding capacity, resulting in an ineffective AR protein for male sexual development. The carrier mother possessed both normal and mutant AR genes, highlighting the genetic basis of the condition.