Article
Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.
Human genetics - 1 Feb 1992
Hawkins J R, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow P N
Abstract excerpt
XY females (n = 17) were analysed for mutations in SRY (sex-determining region Y gene), a gene that has recently been equated with the testis determining factor (TDF). SRY sequences were amplified by the polymerase chain reaction (PCR) and analysed by both the single strand conformational polymor...
Topics
- Base Sequence
- Codon
- DNA-Binding Proteins
- Disorders of Sex Development
- Female
- Genetic Variation
- Gonadal Dysgenesis, 46,XY
- High Mobility Group Proteins
- Humans
- Molecular Sequence Data
- Mutation
- Nuclear Proteins
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Restriction Mapping
- Sex Determination Analysis
- Sex-Determining Region Y Protein