caa a22 4500 397574975 CHVBK 20180308164853.0 cr unu---uuuuu 161202e199601 xx s 000 0 eng 10.1093/hmg/5.1.169 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.1.169 Linkage Studies of Non-Syndromic Recessive Deafness (NSRD) in a Family Originating from the Mirpur Region of Pakistan Maps DFNB1 Centromeric to D13S175 [Elektronische Daten] [K. A. Brown, A. H. Janjua, G. Karbani, G. Parry, A. Noble, G. Crockford, D. T. Bishop, V. E. Newton, A. F. Markham, R. F. Mueller] Autosomal recessive non-syndromal hearing impairment (NSRD) is genetically heterogeneous. Five loci have been identified to date which map to chromosomes 13 (DFNB1), 11 (DFNB2), 17 (DFNB3), 7 (DFNB4) and 14 (DFBN5). We report definite linkage of NSRD to the locus DFNB1 in a single family of 27 families studied of Pakistani origin. Haplotype analysis of markers in the pericentromeric region of chromosome 13q revealed a recombination event which maps DFNB1 proximal to the marker D13S175 and in the vicinity of D13S143. © 1996 Oxford University Press Brown K. A. Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK aut Janjua A. H. Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester, Manchester, UK aut Karbani G. Yorkshire Regional Clinical Genetics Service, St James's University Hospital, Leeds LS9 7TF, UK aut Parry G. Department of Paediatrics, St Luke's Hospital, Bradford, UK aut Noble A. Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK aut Crockford G. ICRF Epidemiology Unit, St James's University Hospital, Leeds, UK aut Bishop D. T. ICRF Epidemiology Unit, St James's University Hospital, Leeds, UK aut Newton V. E. Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester, Manchester, UK aut Markham A. F. Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK aut Mueller R. F. Yorkshire Regional Clinical Genetics Service, St James's University Hospital, Leeds LS9 7TF, UK aut Human Molecular Genetics Oxford University Press 5/1(1996-01), 169-173 0964-6906 5:1<169 1996 5 hmg https://doi.org/10.1093/hmg/5.1.169 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.1.169 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Brown K. A. Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK aut NATIONALLICENCE 700 1- Janjua A. H. Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester, Manchester, UK aut NATIONALLICENCE 700 1- Karbani G. Yorkshire Regional Clinical Genetics Service, St James's University Hospital, Leeds LS9 7TF, UK aut NATIONALLICENCE 700 1- Parry G. Department of Paediatrics, St Luke's Hospital, Bradford, UK aut NATIONALLICENCE 700 1- Noble A. Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK aut NATIONALLICENCE 700 1- Crockford G. ICRF Epidemiology Unit, St James's University Hospital, Leeds, UK aut NATIONALLICENCE 700 1- Bishop D. T. ICRF Epidemiology Unit, St James's University Hospital, Leeds, UK aut NATIONALLICENCE 700 1- Newton V. E. Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester, Manchester, UK aut NATIONALLICENCE 700 1- Markham A. F. Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK aut NATIONALLICENCE 700 1- Mueller R. F. Yorkshire Regional Clinical Genetics Service, St James's University Hospital, Leeds LS9 7TF, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/1(1996-01), 169-173 0964-6906 5:1<169 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford