Article
Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene.
Journal of medical genetics - 1 Apr 1991
Losekoot M, Fodde R, Harteveld C L, van Heeren H, Giordano P C, Went L N, Bernini L F
Abstract excerpt
A mild, non-transfusion dependent, beta thalassaemia phenotype is described in a Dutch patient homozygous for a mutation in the cleavage-polyadenylation sequence of the beta globin gene. The molecular basis of the mutation, AATAAA greater than AATGAA, was determined using denaturing gradient gel electrophoresis (DGGE) and direct sequencing of genomic DNA amplified by the polymerase chain reaction (PCR). Different...
Topics
- Adolescent
- Base Sequence
- DNA
- Electrophoresis, Polyacrylamide Gel
- Female
- Globins
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Poly A