caa a22 4500 467985820 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194232 doi (NATIONALLICENCE)springer-10.1007/BF00194232 Molecular analysis of the human MHC class I region in hereditary haemochromatosis [Elektronische Daten] A study by pulsed-field gel electrophoresis [Deirdre Lord, I. Dunham, R. Campbell, Adrian Bomford, Tom Strachan, Timothy Cox] Summary: The unknown allele that predisposes to the development of haemochromatosis in man has been localized to the HLA class I region on the short arm of chromosome 6. We have utilized pulsed-field gel electrophoresis in conjunction with probes that map within, or in the vicinity of, this region to search for structural lesions that may further define the disease locus. Using the enzyme Mlu I, fragments that associated specifically with the HLA-A23, A31 and B8 alleles were identified. However, in members of three pedigrees affected by haemochromatosis, and in six unrelated patients with the disorder, no disease-specific differences were detected in the DNA fragments with four restriction enzymes and eight probes when compared with healthy individuals. These data suggest that the lesion responsible for hereditary haemochromatosis lies beyond the resolution of this technique and does not involve large structural deletions or extensive re-arrangements in this highly polymorphic region of the genome. Springer-Verlag, 1990 Lord Deirdre Department of Haematology, The Royal Postgraduate Medical School, W12 0NN, London, UK aut Dunham I. MRC Immunochemistry Unit, South Parks Road, OX1 3RE, Oxford, UK aut Campbell R. MRC Immunochemistry Unit, South Parks Road, OX1 3RE, Oxford, UK aut Bomford Adrian Kings College Hospital School of Medicine and Dentistry, SE5, Denmark Hill, London, UK aut Strachan Tom University Department of Medical Genetics, St. Mary's Hospital, Hathersage Road, M13 0JH, Manchester, UK aut Cox Timothy Department of Haematology, The Royal Postgraduate Medical School, W12 0NN, London, UK aut Human Genetics Springer-Verlag 85/5(1990-10-01), 531-536 0340-6717 85:5<531 1990 85 439 https://doi.org/10.1007/BF00194232 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194232 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lord Deirdre Department of Haematology, The Royal Postgraduate Medical School, W12 0NN, London, UK aut NATIONALLICENCE 700 1- Dunham I. MRC Immunochemistry Unit, South Parks Road, OX1 3RE, Oxford, UK aut NATIONALLICENCE 700 1- Campbell R. MRC Immunochemistry Unit, South Parks Road, OX1 3RE, Oxford, UK aut NATIONALLICENCE 700 1- Bomford Adrian Kings College Hospital School of Medicine and Dentistry, SE5, Denmark Hill, London, UK aut NATIONALLICENCE 700 1- Strachan Tom University Department of Medical Genetics, St. Mary's Hospital, Hathersage Road, M13 0JH, Manchester, UK aut NATIONALLICENCE 700 1- Cox Timothy Department of Haematology, The Royal Postgraduate Medical School, W12 0NN, London, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/5(1990-10-01), 531-536 0340-6717 85:5<531 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer