Article
A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases.
Nouvelle revue francaise d'hematologie - 1 Jan 1992
Lavergne J M, Bahnak B R, Vidaud M, Laurian Y, Meyer D
Abstract excerpt
Genomic DNA from 170 unrelated hemophilia A patients was examined for gene defects in the coding region of the Factor VIII gene. Exons 18, 22-24 and 26 contain a CGA codon for arginine within the recognition sequence for the restriction enzyme Taq I. These five sites were amplified by the polymerase chain reaction and tested for abnormal Taq I restriction patterns. In five cases, the enzyme Taq I failed to digest...
Topics
- Base Sequence
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Exons
- Factor VIII
- Genes
- Hemophilia A
- Humans
- Male
- Molecular Sequence Data
- Mutation