Evidence of genetic heterogeneity in the long QT syndrome

作者: J Benhorin , Y. Kalman , A Medina , J Towbin , N Rave-Harel

DOI: 10.1126/SCIENCE.8316839

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摘要: thee long QT syndrome (LQT) is a familial predisposition to sudden death from cardiac arrhythmias. M. Keating et al. performed linkage analysis in large Utah family and found that th disease was closely linked the Harvey ras-1 (H-ras-1) locus on chromosome 11. With use of probe pTBB-2 at H-ras-1 oncogene, logarithm likelihood ratio for (lod score) +16.44 obtained by In subsequent study, tight LQT six other small families. The combined lod score these two studies +21.65 recombination fraction 0. This suggests mutations or resulted families studied. view clinical heterogeneity possible genetic this syndrome, we analyzed Jewish with history LQT. family, whose origin island Jerba near Tunic members reside Israel, probably largest outside United States. It comprises 131 individuals, whom 28 have been affected. Clinical electrocardiographic data collected overmore » 7 years were available 92 blood samples 74. analysis, together al., provides evidence determination LQT.« less

参考文章(7)
M Keating, D Atkinson, C Dunn, K Timothy, G. Vincent, M Leppert, Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene Science. ,vol. 252, pp. 704- 706 ,(1991) , 10.1126/SCIENCE.1673802
George Ebow Bonney, Regressive logistic models for familial disease and other binary traits. Biometrics. ,vol. 42, pp. 611- 625 ,(1986) , 10.2307/2531211
J Benhorin, M Merri, M Alberti, E Locati, A J Moss, W J Hall, L Cui, Long QT syndrome. New electrocardiographic characteristics. Circulation. ,vol. 82, pp. 521- 527 ,(1990) , 10.1161/01.CIR.82.2.521
A J Moss, P J Schwartz, R S Crampton, E Locati, E Carleen, The long QT syndrome: a prospective international study. Circulation. ,vol. 71, pp. 17- 21 ,(1985) , 10.1161/01.CIR.71.1.17
M Merri, J Benhorin, M Alberti, E Locati, A J Moss, Electrocardiographic quantitation of ventricular repolarization. Circulation. ,vol. 80, pp. 1301- 1308 ,(1989) , 10.1161/01.CIR.80.5.1301
Peter J. Schwartz, Maurizio Periti, Alberto Malliani, The long Q-T syndrome. American Heart Journal. ,vol. 89, pp. 378- 390 ,(1975) , 10.1016/0002-8703(75)90089-7
Leppert M, Atkinson D, Dunn C, Keating M, Vincent Gm, Timothy K, Consistent linkage of the long-QT syndrome to the Harvey ras-1 locus on chromosome 11. American Journal of Human Genetics. ,vol. 49, pp. 1335- 1339 ,(1991)