Related Experiment Videos
A gene for hereditary multiple exostoses maps to chromosome 19p
M Le Merrer1, L Legeai-Mallet, P M Jeannin
1Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
Human Molecular Genetics
|May 1, 1994
Summary
Hereditary multiple exostoses (EXT) is a bone disorder. Researchers identified a second gene location (EXT 2) on chromosome 19, supporting EXT as a genetically diverse condition.
Area of Science:
- Genetics
- Orthopedics
- Medical research
Background:
- Hereditary multiple exostoses (EXT) is an autosomal dominant disorder.
- Characterized by cartilage-capped bony prominences on long bones.
- Previous research mapped the EXT 1 gene to chromosome 8q23-q24.
Purpose of the Study:
- To identify additional genetic loci associated with hereditary multiple exostoses.
- To investigate the genetic heterogeneity of EXT.
Main Methods:
- Linkage analysis using microsatellite DNA markers.
- Genetic mapping of the disease gene.
Main Results:
- A second locus for hereditary multiple exostoses (EXT 2) was mapped to chromosome 19p.
- Linkage was established to the D19S221 microsatellite marker.
- These findings support genetic heterogeneity in EXT.
Conclusions:
- Hereditary multiple exostoses is genetically heterogeneous.
- The identification of the EXT 2 locus provides further insight into the genetic basis of EXT.