A gene responsible for cavernous malformations of the brain maps to chromosome 7q.
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.
Dubovsky
J
J
Center for Medical Genetics, Marshfield Medical Research Foundation, WI 54449, USA.
Zabramski
J M
JM
Kurth
J
J
Spetzler
R F
RF
Rich
S S
SS
Orr
H T
HT
Weber
J L
JL
D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006392:Hemangioma, Cavernous / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D044465:White People
D005819:Genetic Markers