Article
Meiotic recombination in an Irish family with beta-thalassaemia.
Human genetics - 1 Aug 1993
Hall G W, Sampietro M, Barnetson R, Fitzgerald J, McCann S, Thein S L
Abstract excerpt
Using the technique of allele-specific priming of the polymerase chain reaction (PCR), the C-T substitution in codon 39 was identified as the cause of beta-thalassaemia in an Irish family. Analysis of the restriction fragment length polymorphisms (RFLPs) in the beta-globin gene cluster establishe...
Topics
- Base Sequence
- Codon
- DNA
- Female
- Genetic Linkage
- Globins
- Haplotypes
- Hematologic Tests
- Humans
- Male
- Meiosis
- Molecular Sequence Data
- Multigene Family
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Recombination, Genetic
