Article
An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity.
American journal of human genetics - 1 Jun 1990
Sai T J, Seino S, Chang C S, Trifiro M, Pinsky L, Mhatre A, Kaufman M, Lambert B, Trapman J, Brinkmann A O
Abstract excerpt
We have discovered in the X-linked androgen receptor gene a single exonic nucleotide substitution that causes complete androgen insensitivity (resistance) in a sibship with three affected individuals. The mutation, a guanine-to-adenine transition, occurs at nucleotide number 2682 and changes the sense of codon 717 from tryptophan to a translation stop signal. Codon 717 is in exon 4, so the mutation predicts the...
Topics
- Amino Acid Sequence
- Androgens
- Base Sequence
- Exons
- Female
- Genes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction