Article
The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.
Genomics - 1 Feb 1991
Dietz H C, Pyeritz R E, Hall B D, Cadle R G, Hamosh A, Schwartz J, Meyers D A, Francomano C A
Abstract excerpt
The Marfan syndrome is a common autosomal dominant disorder of connective tissue. Despite many years of intensive investigation, the primary genetic defect has not yet been identified. Reverse genetic methods, targeted at mapping this disease gene, have resulted in an initial report of linkage of the genetic locus for the Marfan phenotype in Finnish families to two polymorphic markers on chromosome 15. We have...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- Female
- Genetic Linkage
- Genetic Markers
- Genotype
- Humans
- Male
- Marfan Syndrome
- Pedigree
- Phenotype