A GENE FOR HEREDITARY MULTIPLE EXOSTOSES MAPS TO CHROMOSOME 19P

被引:175
作者
LEMERRER, M
LEGEAIMALLET, L
JEANNIN, PM
HORSTHEMKE, B
SCHINZEL, A
PLAUCHU, H
TOUTAIN, A
ACHARD, F
MUNNICH, A
MAROTEAUX, P
机构
[1] INSERM,U155,F-75016 PARIS,FRANCE
[2] INST HUMAN GENET,D-45122 ESSEN,GERMANY
[3] INST MED GENET,CH-8001 ZURICH,SWITZERLAND
[4] HOP EDOUARD HERRIOT,F-69000 LYON,FRANCE
[5] HOP CLOCHEVILLE,F-37000 TOURS,FRANCE
[6] HOP NECKER ENFANTS MALAD,CNRS,URA 584,F-75743 PARIS 15,FRANCE
关键词
D O I
10.1093/hmg/3.5.717
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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 additonal support to the view that EXT is a genetically heterogeneous condition.
引用
收藏
页码:717 / 722
页数:6
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