Article
Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: a collaborative study.
Hormone research - 1 Jan 1992
Lobaccaro J M, Belon C, Chaussain J L, Job J C, Toublanc J E, Battin J, Rochiccioli P, Bernasconi S, Bost M, Bozzola M
Abstract excerpt
In patients with androgen insensitivity syndrome (AIS), RFLP study of the androgen receptor gene made it possible to analyze whether deletions or mutations could be responsible for abnormalities in androgen responsiveness. We studied RFLPs of DNA from 25 46,XY patients with partial AIS (PAIS), defined as a concentration of androgen receptor in genital-skin fibroblasts less than 340 fmol/mg DNA, and DNA from 27...
Topics
- Androgens
- Base Sequence
- DNA
- Deoxyribonuclease HindIII
- Humans
- Metribolone
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length