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A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7
- Source :
- Proceedings of the National Academy of Sciences. 90:3226-3230
- Publication Year :
- 1993
- Publisher :
- Proceedings of the National Academy of Sciences, 1993.
-
Abstract
- The pathogenesis of vascular disease is unclear, but genetic factors play an important role. In this study we performed linkage analyses in two families with supravalvular aortic stenosis, an inherited vascular disorder that causes narrowing of major arteries and may lead to cardiac overload and failure. DNA markers on the long arm of chromosome 7 (D7S371, D7S395, D7S448, and ELN) were linked to supravalvular aortic stenosis in both families with a combined logarithm of likelihood for linkage (lod score) of 5.9 at the ELN locus. These findings indicate that a gene for supravalvular aortic stenosis is located in the same chromosomal subunit as elastin, which becomes a candidate for the disease gene.
- Subjects :
- Genetic Markers
Male
medicine.medical_specialty
Genetic Linkage
Molecular Sequence Data
Polymerase Chain Reaction
Genetic linkage
Internal medicine
medicine
Humans
Recombination, Genetic
Genetics
Chromosome 7 (human)
Multidisciplinary
Base Sequence
biology
Vascular disease
Chromosome Mapping
Aortic Valve Stenosis
DNA
medicine.disease
Elastin
Pedigree
Phenotype
Oligodeoxyribonucleotides
Aortic valve stenosis
Vascular Disorder
cardiovascular system
biology.protein
Cardiology
Female
Williams syndrome
Lod Score
Supravalvular aortic stenosis
Chromosomes, Human, Pair 7
Research Article
Subjects
Details
- ISSN :
- 10916490 and 00278424
- Volume :
- 90
- Database :
- OpenAIRE
- Journal :
- Proceedings of the National Academy of Sciences
- Accession number :
- edsair.doi.dedup.....998fb2a383d15b3df23f49aca9df8e7f