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 β-thalassaemia in an Irish family. Analysis of the restriction fragment length polymorphisms (RFLPs) in the β-globin gene cluster established linkage of the β-thalassaemia mutation to a particular β-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 β-globin gene cluster to be reported. The event has occurred 5′ of the polymorphic RsaI site at position-550 bp upstream of the β-globin gene mRNA Cap site, within the 9.1-kb region that has been shown to be a hot spot for recombination in the β-globin gene cluster.
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Hall, G.W., Sampietro, M., Barnetson, R. et al. Meiotic recombination in an Irish family with beta-thalassaemia. Hum Genet 92, 28–32 (1993). https://doi.org/10.1007/BF00216141
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DOI: https://doi.org/10.1007/BF00216141