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  • Title: An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity.
    Author: Sai TJ, Seino S, Chang CS, Trifiro M, Pinsky L, Mhatre A, Kaufman M, Lambert B, Trapman J, Brinkmann AO.
    Journal: Am J Hum Genet; 1990 Jun; 46(6):1095-100. PubMed ID: 2339702.
    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.
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