caa a22 4500 467986037 CHVBK 20180323112532.0 cr unu---uuuuu 170328e19900701xx s 000 0 eng 10.1007/BF00193199 doi (NATIONALLICENCE)springer-10.1007/BF00193199 Analysis of 7 polymorphic markers at chromosome 11q22-23 in 35 ataxia telangiectasia families; further evidence of linkage [Elektronische Daten] [C. McConville, C. Woods, M. Farrall, J. Metcalfe, A. Taylor] Summary: Ataxia telangiectasia (A-T) is an autosomal recessive disorder characterised by progressive neurological degeneration, oculocutaneous telangiectasia, immunodeficiency and a high incidence of lymphoid tumours. A prerequisite to gaining a complete understanding of the basic defect that results in these features is the localization of the gene(s) involved. We report here a linkage analysis using seven polymorphic markers, which map to 11q22-23, on a sample of 35 consecutively obtained families from the British Isles showing this disorder. In a pairwise analysis, the strongest support for linkage was a lod score of 4.01 at zero recombination from Thy-1. This result supports a previous report showing linkage of the A-T gene to 11q22-23. We have also obtained evidence in a multipoint analysis for a more centromeric A-T-linked locus in the region between YNB 3.12/CJ52.208 and 2-7-1D6. This observation is also supported by inspection of the haplotypes of selected recombinants. Springer-Verlag, 1990 McConville C. Department of Cancer Studies, Cancer Research Campaign Laboratories, University of Birmingham, B15 2TJ, Birmingham, UK aut Woods C. Department of Clinical Genetics, University of Birmingham, Birmingham Maternity Hospital, B15 2TG, Edgbaston, Birmingham, UK aut Farrall M. Department of Molecular Medicine Clinical Research Centre, Medical Research Council, Watford Road, HA1 3UJ, Harrow, Middlesex, UK aut Metcalfe J. Science Faculty, The Open University, Milton Keynes, UK aut Taylor A. Department of Cancer Studies, Cancer Research Campaign Laboratories, University of Birmingham, B15 2TJ, Birmingham, UK aut Human Genetics Springer-Verlag 85/2(1990-07-01), 215-220 0340-6717 85:2<215 1990 85 439 https://doi.org/10.1007/BF00193199 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193199 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- McConville C. Department of Cancer Studies, Cancer Research Campaign Laboratories, University of Birmingham, B15 2TJ, Birmingham, UK aut NATIONALLICENCE 700 1- Woods C. Department of Clinical Genetics, University of Birmingham, Birmingham Maternity Hospital, B15 2TG, Edgbaston, Birmingham, UK aut NATIONALLICENCE 700 1- Farrall M. Department of Molecular Medicine Clinical Research Centre, Medical Research Council, Watford Road, HA1 3UJ, Harrow, Middlesex, UK aut NATIONALLICENCE 700 1- Metcalfe J. Science Faculty, The Open University, Milton Keynes, UK aut NATIONALLICENCE 700 1- Taylor A. Department of Cancer Studies, Cancer Research Campaign Laboratories, University of Birmingham, B15 2TJ, Birmingham, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/2(1990-07-01), 215-220 0340-6717 85:2<215 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer