Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status.

doi:10.1210/jcem.74.4.1347772

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Article

Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status.

The Journal of clinical endocrinology and metabolism - 1 Apr 1992

Quigley C A, Friedman K J, Johnson A, Lafreniere R G, Silverman L M, Lubahn D B, Brown T R, Wilson E M, Willard H F, French F S

Abstract excerpt

The molecular basis of androgen insensitivity was investigated in a family with the complete form of the syndrome. Polymerase chain reaction amplification and Southern blot analysis of genomic DNA revealed a deletion of the entire androgen receptor (AR) gene in affected individuals. The carrier status of female members of this family was examined using a HindIII restriction fragment length polymorphism associated...

Topics

Alleles
Blotting, Southern
Chromosome Deletion
DNA
DNA Probes
Disorders of Sex Development
Female
Genetic Carrier Screening
Gonadal Dysgenesis, 46,XY
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Phenotype

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Receptors, Androgen

Syndrome

Source

Open in PubMed

Identifiers

PMID: 1347772
DOI: 10.1210/jcem.74.4.1347772

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1347772-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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