SCHOTT, J J; CHARPENTIER, F; PELTIER, S; FOLEY, P; DROUIN, E; BOUHOUR, J B; DONNELLY, P; VERGNAUD, Gilles; BACHNER, L; MOISAN, J P

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SCHOTT, J J
ITX - unité de recherche de l'institut du thorax [ITX]

CHARPENTIER, F

PELTIER, S
Université de Poitiers = University of Poitiers [UP]

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Ce document a été publié dans

American Journal of Human Genetics. 1995-10-31, vol. 57, n° 5, p. 1114-22

Elsevier (Cell Press)

Résumé en anglais

Long QT syndrome (LQTS) is a heterogeneous inherited disorder causing syncope and sudden death from ventricular arrhythmias. A first locus for this disorder was mapped to chromosome 11p15.5. However, locus heterogeneity has been demonstrated in several families, and two other loci have recently been located on chromosomes 7q35-36 and 3p21-24. We used linkage analysis to map the locus in a 65-member family in which LQTS was associated with more marked sinus bradycardia than usual, leading to sinus node dysfunction. Linkage to chromosome 11p15.5, 7q35-36, or 3p21-24 was excluded. Positive linkage was obtained for markers located on chromosome 4q25-27. A maximal LOD score of 7.05 was found for marker D4S402. The identification of a fourth locus for LQTS confirms its genetic heterogeneity. Locus 4q25-27 is associated with a peculiar phenotype within the LQTS entity.< Réduire

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Mapping of a gene for long QT syndrome to chromosome 4q25-27.

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