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Regional localization and characterization of a DNA segment on the long arm of chromosome 21
Authors:D N Cooper  S C Niemann  J R Gosden  A R Mitchell  A M Goate  G S Rajendran  D A Miller  L Lim  J Schmidtke
Institution:(1) Neurochemistry Department, Institute of Neurology, University of London, Queen Square, WC1N 3BG London, UK;(2) Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400 Göttingen, Federal Republic of Germany;(3) MRC Clinical and Population Cytogenetics Unit, Western General Hospital, Crewe Road, EH4 2XU Edinburgh, UK;(4) Department of Molecular Biology and Genetics, Wayne State University, 48201 Detroit, MI, USA;(5) Present address: Institute of Molecular and Cellular Biology, University of Singapore, Singapore
Abstract:Summary A human genomic DNA fragment, pAM37 (HGM8; D21S22), was mapped to chromosome 21q2.1-q2.21 by in situ hybridization. This segment is therefore situated on the boundary of the ldquopathological regionrdquo of Down syndrome. A genomic restriction map encompassing 35 kb of chromosome 21 was derived and two restriction fragment length polymorphisms (RFLPs) were mapped and characterized. A homologous sequence was detected in the mouse genome but no homologous RNA was detected in a range of human tissues. This DNA segment will contribute to the linkage mapping of chromosome 21 and will facilitate delineation of the pathological region of Down syndrome.
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