A HUMAN VASCULAR DISORDER, SUPRAVALVULAR AORTIC-STENOSIS, MAPS TO CHROMOSOME-7

The pathogenesis of vascular disease is unclear, but genetic factors p lay 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 card iac 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 t hat a gene for supravalvular aortic stenosis is located in the same ch romosomal subunit as elastin, which becomes a candidate for the diseas e gene.