Isolation and mapping of a polymorphic DNA sequence (pTHH28) on chromosome 7p (D7S371)

Holm, T.; Nakamura, Y.; Ballard, L.; Connell, P.O'; Leppert, M.; Lathrop, G.M.; Lalouel, J.-M.; White, Richard M.

doi:10.1093/nar/16.20.9887

Cited by 1 publication

(2 citation statements)

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“…As D7S395 had previously been mapped to the long arm of chromosome 7 (7q11), these data suggested that a gene for SVAS was located in that chromosomal region. To improve the statistical support for these findings, we performed linkage studies with two polymorphic markers known to be located near 7qll, D7S371 and D7S448 (14,15 (15)(16)(17), marker order is unknown. We attempted to order these loci using the Centre d'ttude du Polymorphisme Humain (CEPH) data base, but marker order could not be determined with certainty, as CEPH mapping data were either incomplete (D7S371, D7S395, and D7S448) or not done (ELN).…”

Section: Resultsmentioning

confidence: 99%

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A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

Ewart

Morris

Ensing

et al. 1993

Proc. Natl. Acad. Sci. U.S.A.

158

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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.

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Section: Resultsmentioning

confidence: 99%

“…Based on segregation analysis, we assumed an autosomal dominant inheritance ofa single gene with a penetrance of 0.90. Allele frequencies for markers were from previous calculations (14)(15)(16)(17). Male and female recombination fractions were assumed to be equal.…”

Section: Methodsmentioning

confidence: 99%