A gene for hereditary multiple exostoses maps to chromosome 19p
M Le Merrer, L Legeai-Mallet… - Human molecular …, 1994 - academic.oup.com
M Le Merrer, L Legeai-Mallet, PM Jeannin, B Horsthemke, A Schlnzel, H Plauchu, A Toutaln…
Human molecular genetics, 1994•academic.oup.comHereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized
by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones.
Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage
analysis in informative families. Here, we report on the genetic mapping of a second locus
(EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the
D19S221 locus, which gives addltonal support to the view that EXT is a genetically …
by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones.
Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage
analysis in informative families. Here, we report on the genetic mapping of a second locus
(EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the
D19S221 locus, which gives addltonal support to the view that EXT is a genetically …
Abstract
Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage analysis in informative families. Here, we report on the genetic mapping of a second locus (EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the D19S221 locus, which gives addltonal support to the view that EXT is a genetically heterogeneous condition.
Oxford University Press