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Archives of Gynecology and Obstetrics

Erschienen in:

01.05.2004 | Original Article

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

verfasst von: G. Fogu, V. Bertini, S. Dessole, P. Bandiera, P. M. Campus, G. Capobianco, R. Sanna, G. Soro, A. Montella

Erschienen in: Archives of Gynecology and Obstetrics | Ausgabe 4/2004

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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 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.

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Titel: Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis
verfasst von: G. Fogu
V. Bertini
S. Dessole
P. Bandiera
P. M. Campus
G. Capobianco
R. Sanna
G. Soro
A. Montella
Publikationsdatum: 01.05.2004
Verlag: Springer-Verlag
Erschienen in: Archives of Gynecology and Obstetrics / Ausgabe 4/2004
Print ISSN: 0932-0067
Elektronische ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-002-0405-5

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Abstract

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