Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis.
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.
Fogu
Giuseppina
G
Department of Physiological, Biochemical and Cellular Sciences, University of Sassari, Via Muroni 5, 07100 Sassari, Italy.
Bertini
Veronica
V
Dessole
Salvatore
S
Bandiera
Pasquale
P
Campus
Paola Maria
PM
Capobianco
Giampiero
G
Sanna
Raimonda
R
Soro
Giovanna
G
Montella
Andrea
A
D000293:Adolescent; D000328:Adult; D000483:Alleles; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D011944:Receptors, Androgen / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D020080:Tandem Repeat Sequences / Q000235:genetics
D011944:Receptors, Androgen; D004247:DNA