Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve

Jay W. Ellison, Marineh Yagubyan, Ramanath Majumdar, Gobinda Sarkar, Mark E. Bolander, Elizabeth J. Atkinson, Maurice E Sarano, Thoralf M. Sundt

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

Objective: We sought to determine if the gene responsible for bicuspid aortic valve (BAV) in an extended family corresponds to previously reported loci for inherited forms of the disorder. Background: Loci at 15q25.1-26 and 9q34 have been reported to be associated with cardiovascular abnormalities involving BAV. Methods: Linkage analysis was performed on DNA collected from a large multigenerational family in which BAV disease segregates in an autosomal dominant manner, using microsatellite markers from the regions previously reported to segregate with the phenotype. Results: Lod scores were determined for genetic markers near the NOTCH1 gene and for a locus on chromosome 15q25.1-26 previously reported as being linked to BAV. The lod scores were negative or less than 1.0 for all markers tested. Conclusions: There is no evidence of linkage of BAV in our pedigree to either the NOTCH1 gene or to the chromosome 15 locus. The disorder in this family appears to be caused by a gene at a novel locus.

Original languageEnglish (US)
Pages (from-to)28-31
Number of pages4
JournalJournal of Surgical Research
Volume142
Issue number1
DOIs
StatePublished - Sep 2007

Fingerprint

Genetic Loci
Genetic Heterogeneity
Lod Score
Genes
Cardiovascular Abnormalities
Chromosomes, Human, Pair 15
Aortic Diseases
Pedigree
Genetic Markers
Microsatellite Repeats
Chromosomes
Bicuspid Aortic Valve
Phenotype
DNA

Keywords

  • bicuspid aortic valve (BAV)
  • cardiac surgery
  • genetics

ASJC Scopus subject areas

  • Surgery

Cite this

Ellison, J. W., Yagubyan, M., Majumdar, R., Sarkar, G., Bolander, M. E., Atkinson, E. J., ... Sundt, T. M. (2007). Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve. Journal of Surgical Research, 142(1), 28-31. https://doi.org/10.1016/j.jss.2006.04.040

Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve. / Ellison, Jay W.; Yagubyan, Marineh; Majumdar, Ramanath; Sarkar, Gobinda; Bolander, Mark E.; Atkinson, Elizabeth J.; Sarano, Maurice E; Sundt, Thoralf M.

In: Journal of Surgical Research, Vol. 142, No. 1, 09.2007, p. 28-31.

Research output: Contribution to journalArticle

Ellison, JW, Yagubyan, M, Majumdar, R, Sarkar, G, Bolander, ME, Atkinson, EJ, Sarano, ME & Sundt, TM 2007, 'Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve', Journal of Surgical Research, vol. 142, no. 1, pp. 28-31. https://doi.org/10.1016/j.jss.2006.04.040
Ellison JW, Yagubyan M, Majumdar R, Sarkar G, Bolander ME, Atkinson EJ et al. Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve. Journal of Surgical Research. 2007 Sep;142(1):28-31. https://doi.org/10.1016/j.jss.2006.04.040
Ellison, Jay W. ; Yagubyan, Marineh ; Majumdar, Ramanath ; Sarkar, Gobinda ; Bolander, Mark E. ; Atkinson, Elizabeth J. ; Sarano, Maurice E ; Sundt, Thoralf M. / Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve. In: Journal of Surgical Research. 2007 ; Vol. 142, No. 1. pp. 28-31.
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