Article
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
Human mutation - 1 Jan 1995
Murono K, Mendonca B B, Arnhold I J, Rigon A C, Migeon C J, Brown T R
Abstract excerpt
Mutations of the human androgen receptor gene were identified in five subjects from four families with androgen insensitivity syndrome. Individual exons of the androgen receptor gene were amplified by the polymerase chain reaction from genomic DNA and screened for sequence-dependent differences in their melting characteristics by denaturing gradient gel electrophoresis. DNA fragments from exons with altered...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Androgen-Insensitivity Syndrome
- Androgens
- Base Sequence
- Binding Sites
- Chromosome Mapping
- Female
- Gonadal Dysgenesis, 46,XY
- Humans