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Seventy-seven persons with a variety of heritable chondrodysplasias were screened for gross rearrangements of the structural gene encoding the major cartilage collagen, collagen II. None was found. Segregation of the locus (COL2A1) was studied in 19 pedigrees using three restriction site dimorphisms (shown by PvuII, HindIII, and BamHI) and a length polymorphism as linkage markers. Discordant segregation between COL2A1 and the mutant locus was seen in pedigrees with multiple epiphyseal dysplasia, autosomal recessive spondyloepiphyseal dysplasia tarda, hypochondroplasia, pseudoachondroplasia, diaphyseal aclasis, and trichorhinophalangeal syndrome. One pedigree with diastrophic dysplasia was weakly concordant. Autosomal dominant spondyloepiphyseal dysplasia tarda and metaphyseal chondrodysplasia (type Schmid) were not informative. We conclude that mutations of the collagen II gene are not a common feature of the heritable chondrodysplasias. Since the chondrocyte binding protein, chondrocalcin, is also encoded at COL2A1 our conclusions apply equally to this gene.

Type

Journal article

Journal

Journal of medical genetics

Publication Date

08/1988

Volume

25

Pages

521 - 527

Addresses

Nuffield Department of Pathology, John Radcliffe Hospital, Oxford.

Keywords

Humans, Cartilage Diseases, Collagen Diseases, Collagen, Collagen Type II, Calcium-Binding Proteins, Protein Precursors, DNA, Genetic Markers, Chromosome Mapping, Pedigree, DNA Mutational Analysis, Polymorphism, Restriction Fragment Length, Genes, Female, Male