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Genetic linkage of familial expansile osteolysis to chromosome 18q
A E Hughes1, A M Shearman, J L Weber
1Department of Medical Genetics, Queen's University of Belfast, UK.
Human Molecular Genetics
|February 1, 1994
Abstract:
Familial expansile osteolysis is a rare bone dysplasia which is transmitted as an autosomal dominant trait in a large kindred in Northern Ireland. The gene which causes the disease shows tight linkage with several polymorphic markers on chromosome 18q with a maximum lod score of 11.53 at a recombination fraction of 0.00 with D18S64. The gene is flanked by D18S35 and D18S61 and is located at chromosome 18q21.1-q22. Mapping a new locus for a gene involved in regulation of bone metabolism may also have implications in the study of Paget's disease of bone which is a common related bone dysplasia.