Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.

Abstract

Craniometaphyseal dysplasia--Jackson type (CMDJ) is an autosomal dominant bone dysplasia with hyperostosis and sclerosis of the skull and abnormal modelling of the metaphyses. In a large German pedigree, a locus for CMDJ has been mapped previously to the short arm of chromosome 5 (5p15.2-p14.1), defining a 19-cM disease interval between markers D5S2004 and D5S502. Analysis of a large Australian pedigree together with a second German family confirms linkage to the same region. Obligate recombinations in the new families and confirmation of a supposed recombination in the previously reported German kindred have enabled us to narrow the critical region down to approximately 4 cM between markers D5S1987 and D5S1991.

• Authors: D Chandler, S Tinschert, K Lohan, K Harrop, J Goldblatt, M Nagy, S Hummel, H S Braun, N Laing, P Nürnberg
• Journal: Human genetics (Hum Genet) Vol. 108 Issue 5 Pg. 394-7 (May 2001) ISSN: 0340-6717 [Print] Germany
• PMID: 11409866 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Genetic Markers

Topics

• Australia
• Bone Diseases, Developmental (genetics)
• Chromosomes, Human, Pair 5 (genetics)
• Female
• Genes, Dominant (genetics)
• Genetic Linkage (genetics)
• Genetic Markers (genetics)
• Germany
• Haplotypes
• Humans
• Lod Score
• Male
• Pedigree
• Recombination, Genetic (genetics)
• Reproducibility of Results