title: Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis.
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.
authors.affiliation: Department of Physiological, Biochemical and Cellular Sciences, University of Sassari, Viale San Pietro 12, 07100 Sassari, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Fogu
authors.forename: V
authors.initials: V
authors.lastname: Bertini
authors.forename: S
authors.initials: S
authors.lastname: Dessole
authors.forename: P
authors.initials: P
authors.lastname: Bandiera
authors.forename: P M
authors.initials: PM
authors.lastname: Campus
authors.forename: G
authors.initials: G
authors.lastname: Capobianco
authors.forename: R
authors.initials: R
authors.lastname: Sanna
authors.forename: G
authors.initials: G
authors.lastname: Soro
authors.forename: A
authors.initials: A
authors.lastname: Montella
mesh_terms: D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000235:genetics*; D017931:DNA Primers; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: D017931:DNA Primers; D011944:Receptors, Androgen