Meiotic recombination in an Irish family with beta-thalassaemia |
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Authors: | Georgina W Hall Maurizio Sampietro Rebecca Barnetson Joan Fitzgerald Shaun McCann SweeLay Thein |
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Institution: | (1) MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU Headington, Oxford, UK;(2) Instituto di Medicina Internal e Fisiopatologia Medica, Universita degli studi di Milan, I-20122 Milano, Italy;(3) Department of Clinical Haematology/Oncology, St. James's Hospital, P.O. Box 580, 8 Dublin, Republic of Ireland |
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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 -thalassaemia in an Irish family. Analysis of the restriction fragment length polymorphisms (RFLPs) in the -globin gene cluster established linkage of the -thalassaemia mutation to a particular -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 -globin gene cluster to be reported. The event has occurred 5 of the polymorphic RsaI site at position-550 bp upstream of the -globin gene mRNA Cap site, within the 9.1-kb region that has been shown to be a hot spot for recombination in the -globin gene cluster. |
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