Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: Evidence for further genetic heterogeneity in this syndrome

Journal Article · Tue Nov 01 00:00:00 EST 1988 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.85.21.8151· OSTI ID:5546694

Brown, T R; Lubahn, D B; Wilson, E M; Joseph, D R; French, F S; Migeon, C J ^[1]

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1. Johns Hopkins Univ. School of Medicine, Baltimore, MD (USA)

The cloning of a cDNA for the human androgen receptor gene has resulted in the availability for cDNA probes that span various parts of the gene, including the entire steroid-binding domain and part of the DNA-binding domain, as well as part of the 5' region of the gene. The radiolabeled probes were used to screen for androgen receptor mutations on Southern blots prepared by restriction endonuclease digestion of genomic DNA from human subjects with complete androgen insensitivity syndrome (AIS). In this investigation, the authors considered only patients presenting complete AIS and with the androgen receptor (-) form as the most probably subjects to show a gene deletion. One subject from each of six unrelated families with the receptor (-) form of complete AIS and 10 normal subjects were studied. In the 10 normal subjects and in 5 of the 6 patients, identical DNA restriction fragment patterns were observed with EcoRI and BamHI. Analysis of other members of this family confirmed the apparent gene deletion. The data provide direct proof that complete AIS in some families can result from a deletion of the androgen receptor structural gene. However, other families do not demonstrate such a deletion, suggesting that point mutations may also result in the receptor (-) form of complete AIS, adding further to the genetic heterogeneity of this syndrome.

• OSTI ID: 5546694
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 85:21; ISSN 0027-8424
• Country of Publication: United States
• Language: English

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59 BASIC BIOLOGICAL SCIENCES
HEREDITARY DISEASES
ETIOLOGY
RECEPTORS
GENOME MUTATIONS
RECOMBINANT DNA
DNA-CLONING
ANDROGENS
CHROMOSOMAL ABERRATIONS
FIBROBLASTS
GENES
HYBRIDIZATION
LEUKOCYTES
PATIENTS
PHOSPHORUS 32
STEROIDS
X CHROMOSOME
ANDROSTANES
ANIMAL CELLS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
CHROMOSOMES
CLONING
CONNECTIVE TISSUE CELLS
DAYS LIVING RADIOISOTOPES
DISEASES
DNA
DNA HYBRIDIZATION
HETEROCHROMOSOMES
HORMONES
ISOTOPES
LIGHT NUCLEI
MATERIALS
MEMBRANE PROTEINS
MUTATIONS
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
PHOSPHORUS ISOTOPES
PROTEINS
RADIOISOTOPES
SOMATIC CELLS
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