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Genetic linkage of familial expansile osteolysis to chromosome 18q.
Department of Medical Genetics, Queen's University of Belfast, UK.
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.
PMID: 7911698 [PubMed - indexed for MEDLINE]
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Cited by 6 PubMed Central articles
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Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.
Laurin N, Brown JP, Morissette J, Raymond V.
Am J Hum Genet. 2002 Jun; 70(6):1582-8. Epub 2002 Apr 30.
[Am J Hum Genet. 2002]
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Linkage of Paget disease of bone to a novel region on human chromosome 18q23.
Good DA, Busfield F, Fletcher BH, Duffy DL, Kesting JB, Andersen J, Shaw JT.
Am J Hum Genet. 2002 Feb; 70(2):517-25. Epub 2001 Dec 7.
[Am J Hum Genet. 2002]
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Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35.
Hocking LJ, Herbert CA, Nicholls RK, Williams F, Bennett ST, Cundy T, Nicholson GC, Wuyts W, Van Hul W, Ralston SH.
Am J Hum Genet. 2001 Nov; 69(5):1055-61. Epub 2001 Sep 5.
[Am J Hum Genet. 2001]
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