Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome

A collaborative study

J. M. Lobaccaro, C. Belon, J. L. Chaussain, J. C. Job, J. E. Toublanc, J. Battin, P. Rochiccioli, S. Bernasconi, M. Bost, M. Bozzola, N. Bouccekine, C. Burési, H. Chaabouni, M. Hachicha, L. Larget-Piet, P. Lecomte, J. M. Limal, G. Magnin, G. Malpuech, C. Moraine & 7 others J. L. Nivelon, M. Ranke, D. Schoenberg, M. Vanclerschueren, R. Moustarih, A. Terraza, Ch Sultan

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)54-59
Number of pages6
JournalHormone Research in Paediatrics
Volume37
Issue number1-2
DOIs
Publication statusPublished - 1992

Fingerprint

Androgen-Insensitivity Syndrome
Androgen Receptors
Genes
DNA
Exons
Mothers
Point Mutation
Restriction Fragment Length Polymorphisms
Sequence Deletion
X Chromosome
Prenatal Diagnosis
Androgens
Siblings
Complementary DNA
Fibroblasts
Skin
Enzymes

Keywords

  • Androgen insensitivity syndrome
  • Androgen receptor gene
  • Molecular analysis
  • RFLP

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health

Cite this

Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome : A collaborative study. / Lobaccaro, J. M.; Belon, C.; Chaussain, J. L.; Job, J. C.; Toublanc, J. E.; Battin, J.; Rochiccioli, P.; Bernasconi, S.; Bost, M.; Bozzola, M.; Bouccekine, N.; Burési, C.; Chaabouni, H.; Hachicha, M.; Larget-Piet, L.; Lecomte, P.; Limal, J. M.; Magnin, G.; Malpuech, G.; Moraine, C.; Nivelon, J. L.; Ranke, M.; Schoenberg, D.; Vanclerschueren, M.; Moustarih, R.; Terraza, A.; Sultan, Ch.

In: Hormone Research in Paediatrics, Vol. 37, No. 1-2, 1992, p. 54-59.

Research output: Contribution to journalArticle

Lobaccaro, JM, Belon, C, Chaussain, JL, Job, JC, Toublanc, JE, Battin, J, Rochiccioli, P, Bernasconi, S, Bost, M, Bozzola, M, Bouccekine, N, Burési, C, Chaabouni, H, Hachicha, M, Larget-Piet, L, Lecomte, P, Limal, JM, Magnin, G, Malpuech, G, Moraine, C, Nivelon, JL, Ranke, M, Schoenberg, D, Vanclerschueren, M, Moustarih, R, Terraza, A & Sultan, C 1992, 'Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: A collaborative study', Hormone Research in Paediatrics, vol. 37, no. 1-2, pp. 54-59. https://doi.org/10.1159/000182282
Lobaccaro, J. M. ; Belon, C. ; Chaussain, J. L. ; Job, J. C. ; Toublanc, J. E. ; Battin, J. ; Rochiccioli, P. ; Bernasconi, S. ; Bost, M. ; Bozzola, M. ; Bouccekine, N. ; Burési, C. ; Chaabouni, H. ; Hachicha, M. ; Larget-Piet, L. ; Lecomte, P. ; Limal, J. M. ; Magnin, G. ; Malpuech, G. ; Moraine, C. ; Nivelon, J. L. ; Ranke, M. ; Schoenberg, D. ; Vanclerschueren, M. ; Moustarih, R. ; Terraza, A. ; Sultan, Ch. / Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome : A collaborative study. In: Hormone Research in Paediatrics. 1992 ; Vol. 37, No. 1-2. pp. 54-59.
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abstract = "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.",
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AU - Job, J. C.

AU - Toublanc, J. E.

AU - Battin, J.

AU - Rochiccioli, P.

AU - Bernasconi, S.

AU - Bost, M.

AU - Bozzola, M.

AU - Bouccekine, N.

AU - Burési, C.

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AU - Hachicha, M.

AU - Larget-Piet, L.

AU - Lecomte, P.

AU - Limal, J. M.

AU - Magnin, G.

AU - Malpuech, G.

AU - Moraine, C.

AU - Nivelon, J. L.

AU - Ranke, M.

AU - Schoenberg, D.

AU - Vanclerschueren, M.

AU - Moustarih, R.

AU - Terraza, A.

AU - Sultan, Ch

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