A gene for hereditary multiple exostoses maps to chromosome 19p |
| |
| Authors: | Le Merrer, Marline Legeai-Mallet, Laurence Jeannin, Patricia Margaritte Horsthemke, Bernhard Schlnzel, Albert Plauchu, Henri Toutaln, Annick Achard, Frederic Munnich, Arnold Maroteaux, Pierre |
| |
| Affiliation: | Unité de Recherches sur les Handicaps Génétiques de I'Enfant INSERM U-393, Hôpital des Enfants-Malades 149 rue de Sevres, 75743 Paris Cedex 15 1Unité INSERM U-155, Chateau de Longchamp, Carrefour du Bois de Boulogne 75016 Pans, France 2Institute für Humangenetik D-45122 Essen, Germany 3Institut für Medizinische Genetik 8001 Zurich, Switzerland 4Hôpital Edouard Herriot 69000 Lyon 5Hôpital Clocheville, 37000 Tours 6Unité URA CNRS 584, Hôpital des Enfants-Malades 75743 Paris Cedex 15, France |
| |
| Abstract: | Hereditary multiple exostoses (EXT) is an autosomal dominantbony disorder characterized by the formation of cartilage-cappedjuxta-epiphyseal prominences on the long bones. Recently, adisease gene (EXT 1) has been mapped to chromosome 8q23-q24by linkage analysis in informative families. Here, we reporton the genetic mapping of a second locus (EXT 2) to the shortarm of chromosome 19 by linkage to a microsatellite DNA markerat the D19S221 locus, which gives addltonal support to the viewthat EXT is a genetically heterogeneous condition. |
| |
| Keywords: | |
| 本文献已被 Oxford 等数据库收录！ |
|
