Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.
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.
Chandler
D
D
Australian Neuromuscular Research Institute, QE II Medical Centre, Perth.
Tinschert
S
S
Lohan
K
K
Harrop
K
K
Goldblatt
J
J
Nagy
M
M
Hummel
S
S
Braun
H S
HS
Laing
N
N
Nürnberg
P
P
D001315:Australia; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D005858:Germany; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic / Q000235:genetics; D015203:Reproducibility of Results
D005819:Genetic Markers