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      Molecular Analysis of the Androgen Receptor Gene in 52 Patients with Complete or Partial Androgen Insensitivity Syndrome: A Collaborative Study

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          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, Hindlll 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 Hindlll 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 Hindlll 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 Hindlll polymorphism studies would enable the identification of carriers in 50% of families, and the prenatal diagnosis of AIS.

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          Author and article information

          Horm Res Paediatr
          Hormone Research in Paediatrics
          S. Karger AG
          03 December 2008
          : 37
          : 1-2
          : 54-59
          aUnité de Biochimie Endocrinienne du Développement et de la Reproduction, Hôpital Lapeyronie et Institut National de la Santé et de la Recherche Médicale, INSERM Unite 58, Montpellier, France; bEndocrinologie Pédiatrique, Service de Pédiatrie, Hôpital St-Vincent-de-Paul, Paris, France; cService de Pédiatrie, Hôpital des Enfants, Bordeaux, France; dService de Pédiatrie, CHU Rangueil, Toulouse, France; eClinica Pediatrica Universitaria, Parma, Italia; fMédecine Infantile, CHR Grenoble, France; gClinica Pediatrica, Policlinico San Matteo, Pavia, Italia; hService d’Endocrinologie, Hôpital Bologhine, Alger, Algérie; iDépartement de Génétique, Faculté de Médecine, Tunis, Tunisie; jService de Pédiatrie, Hôpital H. Chaker, Sfax, Tunisie; kUnité de Génétique, CHRU Angers, France; lService d’Endocrinologie, Hôpital Bretonneau, Tours, France; mService de Pédiatrie, CHR Angers, France; nClinique Gynécologique, Hôpital J.-Bernard, Poitiers, France; oService de Pédiatrie, Hôtel-Dieu, Clermont-Ferrand, France; pUnité de Génétique, Hôpital Bretonneau, Tours, France; qService de Pédiatrie, Hôpital d’Enfants, CHRU Dijon, France; rUniversitäts-Kinderklínik, Tübingen, BRD; sUniversitäts-Kinderklinik, Heidelberg, BRD; tDépartement de Pédiatrie, Louvain, Belgíque; uEndocrinologie et Gynécologie Pédiatriques,; Service de Pédiatrie I, Hôpital St-Charles, Montpellier, France
          182282 Horm Res 1992;37:54–59
          © 1992 S. Karger AG, Basel

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          Page count
          Pages: 6
          Original Paper


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