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Durand, Jean-Bernard; Bachinski, Linda L.; Bieling, Lisa C.; Czernuszewicz, Grazyna Z.; Abchee, Antoine B.; Tao Yu, Qun; Tapscott, Terry; Hill, Rita; Ifegwu, Jonah; Marian, A.J.; Brugada, Ramon; Daiger, Steven; Gregoritch, Jane M.; Anderson, Jeffrey L.; Quiñones, Miguel; Towbin, Jeffrey A.; Roberts, Robert

Localization of a Gene Responsible for Familial Dilated Cardiomyopathy to Chromosome 1q32

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  • Medientyp: E-Artikel
  • Titel: Localization of a Gene Responsible for Familial Dilated Cardiomyopathy to Chromosome 1q32
  • Beteiligte: Durand, Jean-Bernard; Bachinski, Linda L.; Bieling, Lisa C.; Czernuszewicz, Grazyna Z.; Abchee, Antoine B.; Tao Yu, Qun; Tapscott, Terry; Hill, Rita; Ifegwu, Jonah; Marian, A.J.; Brugada, Ramon; Daiger, Steven; Gregoritch, Jane M.; Anderson, Jeffrey L.; Quiñones, Miguel; Towbin, Jeffrey A.; Roberts, Robert
  • Erschienen: Ovid Technologies (Wolters Kluwer Health), 1995
  • Erschienen in: Circulation
  • Sprache: Englisch
  • DOI: 10.1161/01.cir.92.12.3387
  • ISSN: 0009-7322; 1524-4539
  • Schlagwörter: Physiology (medical) ; Cardiology and Cardiovascular Medicine
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:p> <jats:italic>Background</jats:italic> Dilated cardiomyopathy, characterized by ventricular dilatation and decreased systolic contraction, is twofold to threefold more common as a cause of heart failure than hypertrophic cardiomyopathy and costs several billion dollars annually. The idiopathic form occurring early in life, with a 75% mortality in 5 years, is a common reason for transplantation. It is estimated that at least 20% of cases are familial. </jats:p> <jats:p> <jats:italic>Methods and Results</jats:italic> A family of 46 members spanning four generations underwent history and physical examinations, echocardiographic analysis, and blood sampling for genotyping. Diagnostic criteria, detected by echocardiography, consisted of ventricular dimension of ≥2.7 cm/m <jats:sup>2</jats:sup> with an ejection fraction ≤50% in the absence of other potential causes. DNA from all members was analyzed by polymerase chain reaction for amplification of short tandem-repeat polymorphic markers located every 10 cM throughout the human genome. Assuming a penetrance of 90%, linkage analysis was performed to map the responsible chromosomal locus. Linkage analysis, after 412 markers were analyzed, indicated the locus to be on chromosome 1q32, with a peak multipoint logarithm of the odds score at D1S414 of 6.37. </jats:p> <jats:p> <jats:italic>Conclusions</jats:italic> The locus identified in this study for familial dilated cardiomyopathy, 1q32, is rich in candidate genes, such as MEF-2, renin, and helix loop helix DNA binding protein MYF-4. Identification of the genetic defect could provide insight into the molecular basis for the cardiac dilatory response in both familial and acquired disorders. </jats:p>
  • Zugangsstatus: Freier Zugang