A GENE FOR HEREDITARY MULTIPLE EXOSTOSES MAPS TO CHROMOSOME 19P

被引:177
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
相关论文
共 16 条
[1]  
COOK A, 1993, AM J HUM GENET, V53, P71
[2]  
HARRIS H., 1948, ANN EUGENICS, V14, P165
[3]  
HENNEKAM RCM, 1992, J MED GENET, V29, P713
[4]  
KROOTH RS, 1961, AM J HUM GENET, V13, P340
[5]  
LATHROP GM, 1985, AM J HUM GENET, V37, P482
[6]   THE GENE FOR HEREDITARY MULTIPLE EXOSTOSES DOES NOT MAP TO THE LANGER-GIEDION REGION (8Q23-Q24) [J].
LEMERRER, M ;
BENOTHMANE, K ;
STANESCU, V ;
LYONNET, S ;
VANMALDERGEM, L ;
ROYER, G ;
MUNNICH, A ;
MAROTEAUX, P .
JOURNAL OF MEDICAL GENETICS, 1992, 29 (10) :713-715
[7]  
LUDECKE HJ, 1991, AM J HUM GENET, V49, P1197
[8]   MULTIPLE EXOSTOSES IN A PATIENT WITH T(8-11)(Q24.11-P15.5) [J].
OGLE, RF ;
DALZELL, P ;
TURNER, G ;
WASS, D ;
YIP, MY .
JOURNAL OF MEDICAL GENETICS, 1991, 28 (12) :881-883
[9]  
SOLOMON L, 1964, AM J HUM GENET, V16, P351
[10]  
SUGIURA Y, 1976, JPN J HUM GENET, V21, P149