A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14

Genomics

Volumn 31, Issue 2, 1996, Pages 193-200

  Severini, Giovanni Maria ^a   Krajinovic, Maja ^a   Pinamonti, Bruno ^b   Sinagra, Gianfranco ^b   Fioretti, Paolo ^c   Brunazzi, Maria Cristiana ^d   Falaschi, Arturo ^a   Camerini, Fulvio ^b   Giacca, Mauro ^a   Mestroni, Luisa ^a,b   Di Lenarda, Andrea ^e   Lardieri, Gerardina ^e   Morgera, Tullio ^e   Silvestri, Furio ^e   Bussani, Rossana ^e   Davanzo, Milla ^e   Vatta, Matteo ^a   Milasin, Jelena ^a  

^a INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d Ospedale di Legnago   (Italy)

^e MAGGIORE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 14Q; FEMALE; GENE LOCUS; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE ARRHYTHMIA; HUMAN; HYPOTHESIS; MALE; PRIORITY JOURNAL;

EID: 0030050430     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0031     Document Type: Article

References (33)

1. Billingsley, G. D., Cox, D. W., Duncan, A. M. V., Goodfellow, P. J., and Grzeschik, K. H. (1994). Regional localization of loci on chromosome 14 using somatic cell hybrids. Cytogenet. Cell Genet. 66: 33-38.
2. Breithardt, G., Cain, M. E., el-Sherif, N., Flowers, N. C., Hombach, V., Janse, M., Simson, M. B., and Steinbeck, G. (1991). Standards for analysis of ventricular late potentials using high-resolution or signal-averaged electrocardiography. A statement by a Task Force Committee of the European Society of Cardiology, the American Heart Association, and the American College of Cardiology. Circulation 83: 1481-1488.
3. Boehnke, M. (1991). Allele frequency estimation from data on relatives. Am. J. Hum. Genet. 48: 22-25.
4. Camerini, F., Di Lenarda, A., Perkan, A., Pinamonti, B., Sinagra, G., and the Heart Muscle Disease Study Group (1994). Right ventricular dysplasia/cardiomyopathy: What is the evolution of the disease? In "Prognosis and Treatment of Cardiomyopathies and Myocarditis. Cardiomyopathy Update 5" (M. Sekiguchi and P. J. Richardson, Eds.), pp. 281-292, Univ. of Tokyo Press, Tokyo.
5. Carrier, L., Hengstemberg, C., Beckmann, J. S., Guicheny, P., Dufour, C., Bercovici, J., Dausse, E., Berebbi-Bertrand, I., Wisnewsky, C., Pulvenis, D., Fetler, L., Vignal, A., Weissenbach, J., Hillaire, D., Feingold, J., Bouhour, J.-B., Hagege, A., Desnos, M., Isnard, R., Duborg, O., Komajda, M., and Schwartz, K. (1993). Mapping a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nature Genet. 4: 311-313.
6. Cox Matise, T., Perlin, M., and Chakravarti, A. (1994). Automated construction of genetic linkage maps using expert system (Multi Map): A human genome linkage map. Nature Genet. 6: 384-390.
7. Gyapay, G., Morissette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, M., and Weissenbach, J. (1994). The 1993-94 Généthon human genetic linkage map. Nature Genet. 7: 246-339.
8. Hodge, S. E., and Greenberg, D. A. (1992). Sensitivity of lod scores to changes in diagnostic status. Am. J. Hum. Genet. 50: 1053-1066.
9. Jackson, D. P., Hayden, J. D., and Quirke, P. (1991). Extraction of nucleic acid from fresh and archival material. In "PCR. A Practical Approach" (M. J. McPherson, P. Quike, and G. R. Taylor, Eds.), pp. 29-50, IRL Press, Oxford.
10. Jiang, C., Atkinson, D., Towbin, J. A., Splawski, I., Lehmann, M. H., Li, H., Timothy, K., Taggart, R. T., Schwartz, P. J., Vincent, G. M., Moss, A. J., and Keating, M. T. (1994). Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nature Genet. 8: 141-147.
11. Jordan, S. A., McWilliam, P., O'Briain, D. S., and Hunphries, P. (1990). Dinucleotide repeat polymorphism at the D14S42 locus. Nucleic Acids Res. 19: 1171.
12. Keating, M. (1992). Linkage analysis and long-QT syndrome. Using genetics to study cardiovascular disease. Circulation 85: 1973-1986.
13. Lathrop, G. M., and Lalouel, J. M. (1985). Easy calculation of lod scores and genetic risk on small computers. Am. J. Hum. Genet. 36: 460-464.
14. Lathrop, G. M., Lalouel, J. M., Julier, C., and Ott, J. (1984). Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81: 3443-3446.
15. McKenna, W. J., Thiene, G., Nava, A., Fontaliran, F., Blomstrom-Lundqvist, C., Fontaine, G., and Camerini, F. (1994). Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br. Heart J. 71: 215-218.
16. Miani, D., Pinamonti, B., Bussani, R., Silvestri, F., Sinagra, G., and Camerini, F. (1993). Right ventricular dysplasia: A clinical and pathological study of two families with left ventricular involvement. Br. Heart J. 69: 151-157.
17. Miller, S. A., Dykes, D. D., and Polesky, H. F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
18. Murray, J. C., Beutow, K. H., Weber, J. L., Ludwigsen, S., Scherpbier-Heddema, T., Manion, F., Quillen, J., Sheffield, V. C., Sunden, S., and Duyk, G. M. (1994). A comprehensive human linkage map with centimorgan density. Science 265: 2049-2054.
19. Nava, A., Canciani, B., Thiene, G., Scognamiglio, R., Buja, G., Martini, B., Daliento, L., Fasoli, G., Stritoni, P., and Dalla Volta, S. (1990). Analyse du mode de trasmission de la dysplasie ventriculaire droite. Arch. Mal. Coeur 83: 923-928.
20. Nava, A., Thiene, G., Canciani, B., Scognamiglio, R., Daliento, L., Buja, G., Martini, B., Stritoni, P., and Fasoli, G. (1988). Familial occurrence of right ventricular dysplasia: A study involving nine families. J. Am. Coll. Cardiol. 12: 1222-1228.
21. Neitzel, H. (1986). A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum. Genet. 73: 320-326.
22. Ott, J. (1991). "Analysis of Human Genetic Linkage," Johns Hopkins Univ. Press, Baltimore, MD.
23. Pinamonti, B., Sinagra, G., Salvi, A., Di Lenarda, A., Morgera, T., Silvestri, F., Bussani, R., and Camerini, F. (1992). Left ventricular involvement in right ventricular cardiomyopathy. Am. Heart J. 123: 711-724.
24. Ploughman, L. M., and Boehnke, M. (1989). Estimating the power of a proposed linkage study for a complex genetic trait. Am. J. Hum. Genet. 44: 543-551.
25. Rampazzo, A., Nava, A., Danieli, G. A., Buja, G., Daliento, L., Fasoli, G., Scognamiglio, R., Corrado, D., and Thiene, G. (1994). The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum. Mol. Genet. 3: 959-962.
26. Rampazzo, A., Nava, A., Erne, P., Eberhard, M., Vian, E., Slomp, P., Tisio, N., Thiene, G., and Danieli, G. A. (1995). A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum. Mol. Genet. 4: 2151-2154.
27. Thiene, G., Nava, A., Corrado, D., Rossi, L., and Pennelli, N. (1988). Right ventricular cardiomyopathy and sudden death in young people. N. Engl. J. Med. 318: 129-133.
28. Thiene, G., Nava, A., Angelini, A., Daliento, L., Scognamiglio, R., and Corrado, D. (1990). Anatomoclinical aspects of arrhythmogenic right ventricular cardiomyopathy. In "Advances in Cardiomyopathies" (G. Baroldi, F. Camerini, and J. F. Goodwin, Eds.), pp. 397-408, Springer-Verlag, Berlin/Heidelberg.
29. Thierfelder, L., MacRae, C., Watkins, H., Tomfohrde, J., Williams, M., McKenna, W. J., Bohm, K., Noeske, G., Schlepper, M., Bowcock, A., Vosberg, H. P., Seidman, J. G., and Seidman, C. E. (1993). A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc. Natl. Acad. Sci. USA 90: 6270-6274.
30. Thierfelder, L., Watkins, H., MacRae, C., Lamas, R., McKenna, W., Vosberg, H. P., Seidman, J. G., and Seidman, C. E. (1994). α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere. Cell 77: 701-712.
31. Wang, Z., and Weber, J. L. (1992). Continuous linkage map of human chromosome 14 short tandem repeat polymorphism. Genomics 13: 532-536.
32. Watkins, H., MacRae, C. A., Thierfelder, L., Chou, Y.-H., Frenneaux, M., McKenna, W. J., Seidman, J. G., and Seidman, C. E. (1993). A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q. Nature Genet. 3: 333-337.
33. Weissenbach, J., Gyapay, G., Dib, C., Vignal, A., Morissette, J., Millasseau, P., Vaysseix, G., and Lathrop, M. (1992). A second-generation linkage map of the human genome. Nature 359: 794-801.