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Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis

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Abstract

We report the results of a molecular study of a large family segregating the complete form of the Androgen Insensitivity Syndrome (CAIS) in several members from three generations. We identified the mutant allele by Polymerase Chain Reaction (PCR) amplification of the short tandem repeat (CAG)n, highly polymorphic in the population, present in the first exon of the androgen receptor (AR) gene. In this family four different alleles were detected and one of these showed a perfect segregation with the disease. This study enabled us to identify the heterozygous females in this family. We think that this simple, indirect test, is also suitable for prenatal diagnosis of Morris' syndrome when the mother is heterozygous for the size of the short tandem repeat and one affected subject in the family may be studied.

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Authors and Affiliations

  1. Department of Physiological, Biochemical and Cellular Sciences, University of Sassari, Via Muroni 5, 07100, Sassari, Italy

    Giuseppina Fogu

  2. Center of Clinical Genetics, University of Sassari, Viale San Pietro 43B, 07100, Sassari, Italy

    Giuseppina Fogu, Paola Maria Campus, Raimonda Sanna & Giovanna Soro

  3. Department of Human and Hereditary Pathology, University of Pavia, Italy

    Veronica Bertini

  4. Department of Pharmacology, Gynecology and Obstetrics, University of Sassari, Viale San Pietro 12, 07100, Sassari, Italy

    Salvatore Dessole & Giampiero Capobianco

  5. Department of Biomedical Sciences, University of Sassari, Viale San Pietro 43B, 07100, Sassari, Italy

    Pasquale Bandiera & Andrea Montella

Authors
  1. Giuseppina Fogu
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  2. Veronica Bertini
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  3. Salvatore Dessole
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  4. Pasquale Bandiera
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  5. Paola Maria Campus
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  6. Giampiero Capobianco
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  7. Raimonda Sanna
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  8. Giovanna Soro
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  9. Andrea Montella
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Correspondence to Salvatore Dessole.

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Fogu, G., Bertini, V., Dessole, S. et al. Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis. Arch Gynecol Obstet 269, 25–29 (2003). https://doi.org/10.1007/s00404-002-0386-4

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  • DOI: https://doi.org/10.1007/s00404-002-0386-4

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