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

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 sen...

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Main Authors: Sai, Tetsujun, Seino, Susumu, Chang, Chawnshang, Trifiro, Mark, Pinsky, Leonard, Mhatre, Anand, Kaufman, Morris, Lambert, Bernard, Trapman, Jan, Brinkmann, Albert O., Rosenfield, Robert L., Liao, Shutsung
פורמט: Artigo
שפה:English
יצא לאור: 1990
נושאים:
Original Articles
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683844/
https://ncbi.nlm.nih.gov/pubmed/2339702
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id pubmed-1683844
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spelling pubmed-16838442006-12-06 An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity Sai, Tetsujun Seino, Susumu Chang, Chawnshang Trifiro, Mark Pinsky, Leonard Mhatre, Anand Kaufman, Morris Lambert, Bernard Trapman, Jan Brinkmann, Albert O. Rosenfield, Robert L. Liao, Shutsung Am J Hum Genet Original Articles 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. 1990-06 /pmc/articles/PMC1683844/ /pubmed/2339702 Text en
institution US National Library of Medicine
collection PubMed Central
language English
format Article
topic Original Articles
spellingShingle Original Articles
Sai, Tetsujun
Seino, Susumu
Chang, Chawnshang
Trifiro, Mark
Pinsky, Leonard
Mhatre, Anand
Kaufman, Morris
Lambert, Bernard
Trapman, Jan
Brinkmann, Albert O.
Rosenfield, Robert L.
Liao, Shutsung
An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity
description 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.
author Sai, Tetsujun
Seino, Susumu
Chang, Chawnshang
Trifiro, Mark
Pinsky, Leonard
Mhatre, Anand
Kaufman, Morris
Lambert, Bernard
Trapman, Jan
Brinkmann, Albert O.
Rosenfield, Robert L.
Liao, Shutsung
author_facet Sai, Tetsujun
Seino, Susumu
Chang, Chawnshang
Trifiro, Mark
Pinsky, Leonard
Mhatre, Anand
Kaufman, Morris
Lambert, Bernard
Trapman, Jan
Brinkmann, Albert O.
Rosenfield, Robert L.
Liao, Shutsung
author_sort Sai, Tetsujun
title An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity
title_short An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity
title_full An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity
title_fullStr An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity
title_full_unstemmed An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity
title_sort exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity
publishDate 1990
url https://ncbi.nlm.nih.gov/pmc/articles/PMC1683844/
https://ncbi.nlm.nih.gov/pubmed/2339702
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