Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-3-5
pubmed:abstractText
Cerebral cavernous malformations (CCM) are vascular lesions present in some 20 million people worldwide that are responsible for seizures, migraine, hemorrhage, and other neurologic problems. Familial cases ofCCM can be inherited as an autosomal dominant disorder with variable expression. A gene for CCM (CCM/)was recently mapped to a 33-cM segment of chromosome 7q in a large Hispanic family (Dubovsky et al.1995). Here, the collection of several new short tandem repeat polymorphisms (STRPs) within the region of interest on 7q and the refinement of the marker order in this region using both linkage analysis in CEPH families and especially YAC-based STS content mapping are described. Affected members of three Hispanic families share allele haplotypes indicating a common ancestral mutation within these families. Using the shared haplotype information along with analysis of crossovers in affected individuals from both the Hispanic and Caucasian families, the region likely to contain the CCMI gene has been reduced to a 4-cM segment of 7q between D7S2410 and D7S689. All markers within the refined chromosomal segment were located on a single YAC contig estimated to be approximately 2 Mb in size. Four potential candidate genes have been mapped to this region.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1088-9051
pubmed:author
pubmed:issnType
Print
pubmed:volume
5
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
368-80
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:8750196-Base Sequence, pubmed-meshheading:8750196-Brain Neoplasms, pubmed-meshheading:8750196-Chromosome Mapping, pubmed-meshheading:8750196-Chromosomes, Artificial, Yeast, pubmed-meshheading:8750196-Chromosomes, Human, Pair 7, pubmed-meshheading:8750196-Crossing Over, Genetic, pubmed-meshheading:8750196-DNA Primers, pubmed-meshheading:8750196-European Continental Ancestry Group, pubmed-meshheading:8750196-Female, pubmed-meshheading:8750196-Genetic Linkage, pubmed-meshheading:8750196-Genetic Markers, pubmed-meshheading:8750196-Genomic Library, pubmed-meshheading:8750196-Haplotypes, pubmed-meshheading:8750196-Hemangioma, Cavernous, pubmed-meshheading:8750196-Hispanic Americans, pubmed-meshheading:8750196-Humans, pubmed-meshheading:8750196-Intracranial Arteriovenous Malformations, pubmed-meshheading:8750196-Lod Score, pubmed-meshheading:8750196-Male, pubmed-meshheading:8750196-Molecular Sequence Data, pubmed-meshheading:8750196-Pedigree, pubmed-meshheading:8750196-Polymorphism, Genetic
pubmed:year
1995
pubmed:articleTitle
Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.
pubmed:affiliation
Center for Medical Genetics, Marshfield Medical Research Foundation, Wisconsin 54449, USA. johnsone@mfldclin.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't