Archives of Gynecology and Obstetrics

, Volume 269, Issue 4, pp 266–269 | Cite as

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

  • G. Fogu
  • V. Bertini
  • S. DessoleEmail author
  • P. Bandiera
  • P. M. Campus
  • G. Capobianco
  • R. Sanna
  • G. Soro
  • A. Montella
Original Article


We report the results of a molecular study of a large family segregating the complete form of the Androgen Insensitivity Syndrome (CAIS) in several family 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.

Key words

Androgen receptor gene Linkage Short tandem repeat Complete androgen insensitivity syndrome 


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Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • G. Fogu
    • 1
    • 2
  • V. Bertini
    • 3
  • S. Dessole
    • 4
    Email author
  • P. Bandiera
    • 5
  • P. M. Campus
    • 2
  • G. Capobianco
    • 4
  • R. Sanna
    • 2
  • G. Soro
    • 2
  • A. Montella
    • 5
  1. 1.Department of Physiological, Biochemical and Cellular SciencesUniversity of SassariSassariItaly
  2. 2.Centre of Clinical GeneticsUniversity of SassariSassariItaly
  3. 3.Department of Human and Hereditary PathologyUniversity of PaviaPaviaItaly
  4. 4.Department of Pharmacology, Gynecology and ObstetricsUniversity of SassariSassariItaly
  5. 5.Department of Biomedical SciencesUniversity of SassariSassariItaly

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