An exclusion map of Marfan syndrome

S. H. Blanton, M. Sarfarazi, H. Eiberg, J. De Groote, P. A. Farndon, M. W. Kilpatrick, A. H. Child, F. M. Pope, L. Peltonen, C. A. Francomano, C. Boileau, M. Keston, P. Tsipouras

Research output: Contribution to journalArticle

Abstract

The combined genetic data between the Marfan syndrome and 75 informative loci on 18 autosomes were used to construct an exclusion map for this disorder. Data are also presented for a further two unmapped markers. The most likely location of the Marfan syndrome gene is highlighted and all the unexcluded areas of the genome are displayed in a graphical form. This exclusion map shows that almost 75% of the genome has been excluded as a likely location for the Marfan syndrome gene in the majority of the families studied. Apart from chromosomes 8, 13, 21, and 22, for which no data were available, other regions not excluded yet include 5p, 6p, 9p, 10p, 12p, 15, 17p, 18, and 20p. Future linkage analysis using markers located in the highlighted regions should facilitate the identification of the site of the Marfan syndrome gene.

Original languageEnglish (US)
Pages (from-to)73-77
Number of pages5
JournalJournal of medical genetics
Volume27
Issue number2
StatePublished - Feb 14 1990
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Blanton, S. H., Sarfarazi, M., Eiberg, H., De Groote, J., Farndon, P. A., Kilpatrick, M. W., Child, A. H., Pope, F. M., Peltonen, L., Francomano, C. A., Boileau, C., Keston, M., & Tsipouras, P. (1990). An exclusion map of Marfan syndrome. Journal of medical genetics, 27(2), 73-77.