Androgen receptor binding studies on heterozygotes in a family with androgen insensitivity syndrome.
HE MacLean, S Chu, F Joske, GL Warne, JD Zajac
Molecular Genetics and Metabolism | Published : 1995
A large family with androgen insensitivity syndrome (AIS) has been investigated, in order to detect carrier individuals and to investigate their AR binding. We have previously reported that different affected members of this family have different AR gene deletions, and, testing normal female relatives of the affected individuals, we have identified three heterozygote females all of whom carry a deletion of exon E of the AR gene. Androgen binding capacity was measured in cultured genital skin fibroblasts from normal male and female controls, the affected, and the heterozygote individuals in this family. A significant difference was found between the binding ranges for normal male foreskin and..View full abstract