Genetic linkage of familial expansile osteolysis to chromosome 18q.
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.
Hughes
A E
AE
Department of Medical Genetics, Queen's University of Belfast, UK.
Shearman
A M
AM
Weber
J L
JL
Barr
R J
RJ
Wallace
R G
RG
Osterberg
P H
PH
Nevin
N C
NC
Mollan
R A
RA
D000818:Animals; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D005260:Female; D005799:Genes, Dominant; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains / Q000235:genetics; D009660:Northern Ireland; D010001:Osteitis Deformans / Q000235:genetics; D010014:Osteolysis / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length