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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: A collaborative study
Hormone Research in Paediatrics, Volume 37, No. 1-2, Year 1992
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Description
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 abnormalitities 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 < 340 fmol/mg DNA, and DNA from 27 46, XY patients with complete AIS (CAIS) with no detectable androgen receptor site. DNA samples were digested with BamHI, EcoRI. HindIII and TaqI restriction enzymes and hybridized with three cDNA probes covering the three domains of the androgen receptor. When we had the maternal and an unaffected brother’s DNA, we analyzed the two androgen receptor gene polymorphisms described, the HindIII and the exon 1 CAG repeat polymorphisms, in order to distinguish the two maternal X chromosomes, and to detect carriers of AIS. We did not find any large deletion among the 52 patients. We observed a heterozygous mother in 3 of 14 families studied with the HindIII polymorphism, and in 12 of 25 families using the exon 1 CAG repeat polymorphism. This study suggests that in AIS, abnormalities in androgen receptor response could be related to point mutations or microdeletions rather than to gross structural alterations of the androgen receptor gene. Furthermore, unless the point mutation has been described, exon 1 and HindIII polymorphism studies would enable the identification of carriers in 50% of families, and the prenatal diagnosis of AIS. © 1992 S. Karger AG, Basel.
Authors & Co-Authors
Lobaccaro, Jean Marc Adolphe
France, Paris
Inserm
Belon, C.
France, Paris
Inserm
Chaussain, Jean Louis
France, Paris
Hopital Saint-vincent-de-paul
Job, Jean Claude
France, Paris
Hopital Saint-vincent-de-paul
Toublanc, Jean Edmond
France, Paris
Hopital Saint-vincent-de-paul
Battin, J.
France, Bordeaux
Groupe Hospitalier Pellegrin
Rochiccioli, P.
France, Toulouse
Hôpital Rangueil
Bernasconi, S.
Italy, Parma
Clinica Pediatrica
Bost, M.
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Bozzola, M.
Italy, Pavia
Fondazione Irccs Policlinico San Matteo
Bouccekine, N.
Algeria, Algiers
Hôpital de Bologhine
Burési, Catherine
Tunisia, Tunis
Faculté de Médecine de Tunis
Chaâbouni, Habiba Bouhamed
Tunisia, Tunis
Faculté de Médecine de Tunis
Hachicha, Mongia T.
Tunisia, Sfax
Chu Hedi-chaker
Larget-Piet, L.
France
Chru Angers
Lecomte, P.
France, Tours
Hopital Bretonneau
Limal, J. M.
France, Angers
C.h.r.
Magnin, G.
France, Poitiers
Hôpital Jean Bernard
Malpuech, G.
France, Clermont-ferrand
Hotel-dieu Chu de Clermont-ferrand
Moraine, Claude
France, Tours
Hopital Bretonneau
Nivelon, J. L.
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Ranke, M.
Germany, Tubingen
Universitätsklinikum Und Medizinische Fakultät Tübingen
Schoenberg, D.
Germany, Heidelberg
Universitätsklinikum Heidelberg
Vanclerschueren, M.
Belgium, Louvain
Département de Pédiatrie
Moustarih, R.
France, Paris
Inserm
Terraza, A.
France, Paris
Inserm
Sultan, Charles S.
France, Paris
Inserm
France, Montpellier
Hopital Saint-charles
Statistics
Citations: 27
Authors: 27
Affiliations: 20
Identifiers
Doi:
10.1159/000182282
ISSN:
16632818
e-ISSN:
16632826
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Sexual And Reproductive Health