title: [Physiopathology of androgen insensitivity syndromes. Contribution of molecular biology].
abstract: Molecular genetic study of androgen insensitivity syndrome is now easier by the development of powerful molecular tools. Complementary DNA of the androgen receptor gene has been recently cloned and sequenced. The development of cDNA probes gave the opportunity to study DNA restriction fragment length polymorphisms of patients with complete or partial androgen insensitivity syndrome. These studies demonstrated that deletions are rarely observed. Using PCR and sequencing of exons, several groups described point mutations within the androgen receptor gene. Enzymatic amplification along with denaturing gradient gel electrophoresis and single strand conformational polymorphism study allowed the description of new mutations. These powerful tools together with mRNA study, expression of muted gene, anti-receptor study had also permitted to analyze correlations between structure-function activity of the androgen receptor gene in patients with androgen insensitivity syndrome.
authors.affiliation: Endocrinologie et Gynécologie Pédiatriques, Service de Pédiatrie I, CHRU St Charles, Montpellier.
authors.forename: C
authors.initials: C
authors.lastname: Sultan
authors.forename: J M
authors.initials: JM
authors.lastname: Lobaccaro
authors.forename: R
authors.initials: R
authors.lastname: Defay
authors.forename: R
authors.initials: R
authors.lastname: Medlej
authors.forename: R
authors.initials: R
authors.lastname: Ktari
authors.forename: R
authors.initials: R
authors.lastname: Moustarih
authors.forename: C
authors.initials: C
authors.lastname: Belon
authors.forename: A
authors.initials: A
authors.lastname: Terraza
mesh_terms: D000728:Androgens / Q000502:physiology*; D012734:Disorders of Sex Development / Q000235:genetics / Q000503:physiopathology*; D005796:Genes; D005821:Genetic Techniques; D006801:Humans; D008967:Molecular Biology; D011944:Receptors, Androgen / Q000235:genetics / Q000502:physiology*; D013577:Syndrome
chemical_list: D000728:Androgens; D011944:Receptors, Androgen
vernacular_title: Physiopathologie des syndromes d'insensibilité aux androgènes. Apport de la biologie moléculaire.