Article
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.
American journal of human genetics - 1 Nov 1992
Hawkins J R, Taylor A, Goodfellow P N, Migeon C J, Smith K D, Berkovitz G D
Abstract excerpt
The Y chromosome gene SRY (sex-determining region, Y gene) has been equated with the mammalian testis-determining factor. The SRY gene of five subjects with 46,XY complete gonadal dysgenesis (46,XY karyotype, completely female external genitalia, normal Müllerian ducts, and streak gonads) was eva...
Topics
- Base Sequence
- DNA, Single-Stranded
- DNA-Binding Proteins
- Female
- Gonadal Dysgenesis, 46,XY
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nuclear Proteins
- Nucleic Acid Conformation
- Oligodeoxyribonucleotides
- Polymorphism, Genetic
- Sex-Determining Region Y Protein
- Transcription Factors
- Y Chromosome