title: Meiotic recombination in an Irish family with beta-thalassaemia.
abstract: 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 established linkage of the beta-thalassaemia mutation to a particular beta-haplotype but indicated that a recombinational event had occurred in the paternal chromosome in the younger of two affected children. Non-paternity was excluded by DNA fingerprinting analysis with hypervariable minisatellite probes. This is the fourth case of recombination in the beta-globin gene cluster to be reported. The event has occurred 5' of the polymorphic RsaI site at position -550 bp upstream of the beta-globin gene mRNA Cap site, within the 9.1-kb region that has been shown to be a hot spot for recombination in the beta-globin gene cluster.
authors.affiliation: MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK.
authors.forename: G W
authors.initials: GW
authors.lastname: Hall
authors.forename: M
authors.initials: M
authors.lastname: Sampietro
authors.forename: R
authors.initials: R
authors.lastname: Barnetson
authors.forename: J
authors.initials: J
authors.lastname: Fitzgerald
authors.forename: S
authors.initials: S
authors.lastname: McCann
authors.forename: S L
authors.initials: SL
authors.lastname: Thein
mesh_terms: D001483:Base Sequence; D003062:Codon; D004247:DNA; D005260:Female; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics; D006239:Haplotypes; D006403:Hematologic Tests; D006801:Humans; D008297:Male; D008540:Meiosis / Q000235:genetics*; D008969:Molecular Sequence Data; D005810:Multigene Family; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D015183:Restriction Mapping; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D005914:Globins; D004247:DNA