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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1990 Jun;46(6):1095–1100.

An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity

Tetsujun Sai, Susumu Seino, Chawnshang Chang, Mark Trifiro, Leonard Pinsky, Anand Mhatre, Morris Kaufman, Bernard Lambert, Jan Trapman, Albert O Brinkmann, Robert L Rosenfield, Shutsung Liao
PMCID: PMC1683844  PMID: 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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Selected References

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