Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity.

doi:10.1002/ajmg.1320400425

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Article

Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity.

American journal of medical genetics - 15 Sept 1991

Trifiro M, Prior R L, Sabbaghian N, Pinsky L, Kaufman M, Nylen E G, Belsham D D, Greenberg C R, Wrogemann K

Abstract excerpt

We have discovered in the X-linked androgen receptor gene a single nucleotide substitution that is the putative cause of complete androgen insensitivity (resistance) in a family with affected individuals in 2 generations. Earlier studies on the family indicated co-segregation of mutant phenotype and the RFLPs at the loci DXS1 and DXYS1. The mutation is an adenine-to-thymine transversion in exon 8 that changes the...

Topics

Amino Acid Sequence
Androgens
Base Sequence
Child
Chromosome Mapping
DNA
Exons
Female
Genetic Linkage
Humans
Immunoblotting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Protein Biosynthesis

RNA

Receptors, Androgen

Source

Open in PubMed

Identifiers

PMID: 1720929
DOI: 10.1002/ajmg.1320400425

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1720929-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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