Genetic linkage of familial expansile osteolysis to chromosome 18q.

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.

• Authors: A E Hughes, A M Shearman, J L Weber, R J Barr, R G Wallace, P H Osterberg, N C Nevin, R A Mollan
• Journal: Human molecular genetics (Hum Mol Genet) Vol. 3 Issue 2 Pg. 359-61 (Feb 1994) ISSN: 0964-6906 [Print] England
• PMID: 7911698 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Topics

• Animals
• Chromosome Mapping
• Chromosomes, Human, Pair 18
• Female
• Genes, Dominant
• Haplotypes (genetics)
• Humans
• Lod Score
• Male
• Mice
• Mice, Mutant Strains (genetics)
• Northern Ireland
• Osteitis Deformans (genetics)
• Osteolysis (genetics)
• Pedigree
• Polymorphism, Restriction Fragment Length