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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

Fogu, Giuseppa and Bertini, Veronica and Dessole, Salvatore and Bandiera, Pasquale and Campus, Paola Maria and Capobianco, Giampiero and Sanna, Raimonda and Soro, Giovanna and Montella, Andrea Costantino Mario (2004) Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis. Archives of Gynecology and Obstetrics, Vol. 269 (4), p. 266-269. eISSN 1432-0711. Article.

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DOI: 10.1007/s00404-002-0405-5

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.

Item Type:Article
ID Code:521
Status:Published
Refereed:Yes
Uncontrolled Keywords:Androgen receptor gene, linkage, short tandem repeat, complete androgen insensitivity syndrome
Subjects:Area 06 - Scienze mediche > MED/40 Ginecologia e ostetricia
Area 05 - Scienze biologiche > BIO/18 Genetica
Area 05 - Scienze biologiche > BIO/16 Anatomia umana
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
001 Università di Sassari > 01 Dipartimenti > Neuroscienze, scienze materno infantili
Publisher:Springer Berlin / Heidelberg
eISSN:1432-0711
Deposited On:18 Aug 2009 10:02

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