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The etiology of idiopathic scoliosis remains unknown. The condition results in a characteristic deformity of the spine and surrounding tissues. Both Types I and II collagen are important constituents of the affected tissues, and thus defective collagens are reasonable candidates for the primary abnormality in adolescent idiopathic scoliosis (AIS). Direct analyses of the amount and solubility of collagen have revealed differences between normal individuals and those with AIS. However, these changes may be secondary to the mechanical effects of the spinal deformity. Segregation analysis was done of genetic markers linked to the structural genes encoding Types I and II collagen to test these candidate loci in four pedigrees with dominantly inherited AIS. In one pedigree, markers linked to both of the Type I collagen loci (COL1A1 and COL1A2) were found to be inherited independently of the abnormal phenotype. Two pedigrees were discordant at one of the Type I loci. The condition also segregated independently of the locus for Type II collagen (COL2A1) in three pedigrees. This is evidence against idiopathic scoliosis generally being caused by mutations in the Types I and II collagen genes.

Type

Journal article

Journal

Clinical orthopaedics and related research

Publication Date

01/1992

Pages

305 - 310

Addresses

Nuffield Department of Orthopaedic Surgery, John Radcliffe Hospital, Headington, Oxford, England.

Keywords

Humans, Scoliosis, Collagen, Genetic Markers, Restriction Mapping, Pedigree, Phenotype, Polymorphism, Restriction Fragment Length, Adolescent, Child, Female, Male