A gene responsible for cavernous malformations of the brain maps to chromosome 7q

Jan Dubovsky, Joseph M. Zabramski, Janice Kurth, Robert F. Spetzier, Steven S. Rich, Harry T. Orr, James L. Weber

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240 Scopus citations


Cavernous malformations of the brain are vascular lesions which are present in up to 0.4% of all individuals and which are often accompanied by seizures, migraine, hemorrhage and other neurologic problems. Using linkage analysis and a set of short tandem repeat polymorphisms, a gene responsible for cavernous malformations in a large Hispanic kindred was mapped to the q11-q22 region of chromosome 7. A maximum pairwise lod score of 4.2 was obtained at zero recombination with marker PY5-18 at locus D7S804. Lod scores in excess of 3.0 were obtained with four additional markers closely linked to PY5-18. A broad chromosome 7q haplotype of 33 cM length on the sex average map was shared by all affected individuals indicating that the gene lies between loci D7S502 and D7S479. / 1995 Oxford University Press.

Original languageEnglish (US)
Pages (from-to)453-458
Number of pages6
JournalHuman molecular genetics
Issue number3
StatePublished - Mar 1995

Bibliographical note

Funding Information:
We thank JoAnn Snyder and Elizabeth Eggers for assistance in blood collection and DNA extraction. This work was supported by NIH grant NS16308, by the Arizona Disease Research Commission Contract 9516 and by the Barrow Neurological Institute.


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