A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome

C. R. Sweet, M. A. Behzadian, Paul G McDonough

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Objective: To further delineate the diversity of genetic alterations in the gene coding for the androgen receptor in individuals with the androgen insensitivity syndrome and to increase our understanding of the disease at the molecular level. Design: This was a prospective study in which genomic deoxyribonucleic acid (DNA) from individuals with androgen insensitivity were examined through the polymerase chain reaction and DNA sequencing analysis. Patients: Eleven complete and four individuals with partial androgen insensitivity syndrome were examined. Results: Exons two through eight were grossly intact in all study subjects. Nucleotide sequence analysis revealed that three of three related family members with complete androgen insensitivity had the same guanine to adenine base substitution in exon five of the steroid-binding domain. Conclusion: The subsequent alanine to threonine amino acid conversion may have resulted in a configurational change of the androgen receptor protein leading to complete androgen insensitivity. This precise alteration has not been previously identified in the human androgen receptor gene in patients with the androgen insensitivity syndrome.

Original languageEnglish (US)
Pages (from-to)703-707
Number of pages5
JournalFertility and sterility
Volume58
Issue number4
StatePublished - Jan 1 1992

Fingerprint

Androgen-Insensitivity Syndrome
Androgen Receptors
Point Mutation
Androgens
Exons
Genes
DNA
Guanine
Adenine
Threonine
Alanine
Sequence Analysis
Steroids
Prospective Studies
Amino Acids
Polymerase Chain Reaction
Proteins

Keywords

  • Androgen insensitivity syndrome
  • point mutation

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

Cite this

A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome. / Sweet, C. R.; Behzadian, M. A.; McDonough, Paul G.

In: Fertility and sterility, Vol. 58, No. 4, 01.01.1992, p. 703-707.

Research output: Contribution to journalArticle

Sweet, C. R. ; Behzadian, M. A. ; McDonough, Paul G. / A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome. In: Fertility and sterility. 1992 ; Vol. 58, No. 4. pp. 703-707.
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