Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy.

Abstract excerpt

We have examined the nature of the mutant androgen receptor in a family with a severe defect in virilization associated with a qualitative defect in receptor function. The androgen receptor gene in this family contains two structural alterations: a single nucleotide substitution at position 2444 in exon 5 (adenosine----guanosine) that converts tyrosine 761 to a cysteine residue and a shortened glutamine...

Topics

• Base Sequence
• Cloning, Molecular
• Dihydrotestosterone
• Gene Expression
• Genetic Vectors
• Humans
• In Vitro Techniques
• Molecular Sequence Data
• Mutation
• Nandrolone
• Oligonucleotides