Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias

The chondrodysplasias are characterised by the abnormal development of articulating joints and bone. Mutations in the COL2A1 and COL10A1 genes, which encode the cartilage collagens type II and type X, have been identified in a variety of inherited chondrodysplasias. However, both genes have also bee...

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Bibliographic Details
Published in:Human genetics 1994-12, Vol.94 (6), p.698-700
Main Authors: Loughlin, J, Irven, C, Sykes, B
Format: Article
Language:English
Subjects:
Cartilage Oligomeric Matrix Protein
DNA, Satellite - analysis
Extracellular Matrix Proteins
Genetic Linkage
Glycoproteins - genetics
Humans
Matrilin Proteins
Osteochondrodysplasias - genetics
Pedigree
Polymerase Chain Reaction
Proteins - genetics
Proteoglycans
Recombination, Genetic
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Summary:The chondrodysplasias are characterised by the abnormal development of articulating joints and bone. Mutations in the COL2A1 and COL10A1 genes, which encode the cartilage collagens type II and type X, have been identified in a variety of inherited chondrodysplasias. However, both genes have also been excluded as the mutant loci in several chondrodysplasia pedigrees, indicating the existence of at least one other chondrodysplasia locus. We report the exclusion of the genes encoding two cartilage-specific proteins, the cartilage link protein and the cartilage matrix protein, in several chondrodysplasia pedigrees in which COL2A1 had previously been excluded as the mutant locus.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00206966