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Osteoarthritis (OA) is a common debilitating disease resulting from the degeneration of articular cartilage. The major protein of cartilage is type II collagen, which is encoded by the COL2A1 gene. Mutations at this locus have been discovered in several individuals with inherited disorders of cartilage. We have identified 27 primary OA patients who are heterozygous for sequence dimorphisms located in the coding region of COL2A1. These dimorphisms were used to distinguish the mRNA output from each of the two COL2A1 alleles in articular cartilage obtained from each patient. Three patients demonstrated differential allelic expression and produced < 12% of the normal level of mRNA from one of their COL2A1 alleles. The same allele shows reduced expression in all three patients, and this allele is more frequent in a well-defined OA population than in a control group, suggesting the possible existence of a rare COL2A1 allele that predisposes to OA.

Type

Journal article

Journal

American journal of human genetics

Publication Date

05/1995

Volume

56

Pages

1186 - 1193

Addresses

University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital, United Kingdom.

Keywords

Knee, Cartilage, Articular, Humans, Osteoarthritis, Collagen, RNA, Messenger, Genetic Markers, Polymerase Chain Reaction, Gene Expression, Genotype, Polymorphism, Restriction Fragment Length, Alleles, Middle Aged, Female, Male