Inherited collagen disorders.
The investigation of the inherited matrix disorders has been an example of progress on two parallel fronts. Two decades of protein chemistry have provided detailed background information on the structure, if not the function, of collagen. This has been used to identify the likely candidate genes for analysis using DNA markers. Segregation analysis has in turn sorted out which diseases are caused by collagen gene mutations and which are not. This information is now concentrating effort on defining the mutations in the linked diseases and establishing linkages to other genes in the rest. Using the background structural information, efficient and specific strategies for rapidly identifying individual mutants are being designed. Best of all, prenatal diagnosis is now a reality for many parents faced with the prospect of having a severely crippled child.
Sykes
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University of Oxford, Nuffield Department of Pathology, John Radcliffe Hospital, U.K.
D003094:Collagen / Q000235:genetics; D003095:Collagen Diseases / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics; D010013:Osteogenesis Imperfecta / Q000235:genetics
D003094:Collagen