title: An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity.
abstract: We have discovered in the X-linked androgen receptor gene a single exonic nucleotide substitution that causes complete androgen insensitivity (resistance) in a sibship with three affected individuals. The mutation, a guanine-to-adenine transition, occurs at nucleotide number 2682 and changes the sense of codon 717 from tryptophan to a translation stop signal. Codon 717 is in exon 4, so the mutation predicts the synthesis of a truncated receptor that lacks most of its androgen-binding domain. The substitution abolishes a recognition sequence for the restriction endonuclease HaeIII. Amplification of exon 4 by the polymerase chain reaction followed by double digestion with HinfI and HaeIII permits facile recognition of hemizygotes and heterozygous carriers of the mutation.
authors.affiliation: Ben May Institute, University of Chicago.
authors.forename: T J
authors.initials: TJ
authors.lastname: Sai
authors.forename: S
authors.initials: S
authors.lastname: Seino
authors.forename: C S
authors.initials: CS
authors.lastname: Chang
authors.forename: M
authors.initials: M
authors.lastname: Trifiro
authors.forename: L
authors.initials: L
authors.lastname: Pinsky
authors.forename: A
authors.initials: A
authors.lastname: Mhatre
authors.forename: M
authors.initials: M
authors.lastname: Kaufman
authors.forename: B
authors.initials: B
authors.lastname: Lambert
authors.forename: J
authors.initials: J
authors.lastname: Trapman
authors.forename: A O
authors.initials: AO
authors.lastname: Brinkmann
mesh_terms: D000595:Amino Acid Sequence; D000728:Androgens / Q000378:metabolism*; D001483:Base Sequence; D005091:Exons; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000096:biosynthesis; D011944:Receptors, Androgen / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid
chemical_list: D000728:Androgens; D012333:RNA, Messenger; D011944:Receptors, Androgen