Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1990 Feb;27(2):73–77. doi: 10.1136/jmg.27.2.73

An exclusion map of Marfan syndrome.

S H Blanton 1, M Sarfarazi 1, H Eiberg 1, J de Groote 1, P A Farndon 1, M W Kilpatrick 1, A H Child 1, F M Pope 1, L Peltonen 1, C A Francomano 1, et al.
PMCID: PMC1016923  PMID: 2319588

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.

Full text

PDF
74

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Boileau C., Jondeau G., Bonaiti C., Coulon M., Delorme G., Dubourg O., Bourdarias J. P., Junien C. Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family. J Med Genet. 1990 Feb;27(2):78–81. doi: 10.1136/jmg.27.2.78. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Dalgleish R., Hawkins J. R., Keston M. Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family. J Med Genet. 1987 Mar;24(3):148–151. doi: 10.1136/jmg.24.3.148. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Edwards J. H. Exclusion mapping. J Med Genet. 1987 Sep;24(9):539–543. doi: 10.1136/jmg.24.9.539. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Francomano C. A., Streeten E. A., Meyers D. A., Pyeritz R. E. Marfan syndrome: exclusion of genetic linkage to three major collagen genes. Am J Med Genet. 1988 Feb;29(2):457–462. doi: 10.1002/ajmg.1320290233. [DOI] [PubMed] [Google Scholar]
  5. Mace M. A suggestion of linkage between the Marfan syndrome and the rhesus blood group. Clin Genet. 1979 Aug;16(2):96–102. doi: 10.1111/j.1399-0004.1979.tb00857.x. [DOI] [PubMed] [Google Scholar]
  6. Ogilvie D. J., Wordsworth B. P., Priestley L. M., Dalgleish R., Schmidtke J., Zoll B., Sykes B. C. Segregation of all four major fibrillar collagen genes in the Marfan syndrome. Am J Hum Genet. 1987 Dec;41(6):1071–1082. [PMC free article] [PubMed] [Google Scholar]
  7. Pyeritz R. E., McKusick V. A. The Marfan syndrome: diagnosis and management. N Engl J Med. 1979 Apr 5;300(14):772–777. doi: 10.1056/NEJM197904053001406. [DOI] [PubMed] [Google Scholar]
  8. Sarfarazi M., Huson S. M., Edwards J. H. An exclusion map for Von Recklinghausen neurofibromatosis. J Med Genet. 1987 Sep;24(9):515–520. doi: 10.1136/jmg.24.9.515. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Schleutermann D. A., Murdoch J. L., Walker B. A., Bias W. B., Chase G. A., Freidhoff L. B., McKusick V. A. A linkage study of the Marfan syndrome. Clin Genet. 1976 Jul;10(1):51–53. doi: 10.1111/j.1399-0004.1976.tb00008.x. [DOI] [PubMed] [Google Scholar]
  10. Schwartz R. C., Blanton S. H., Hyde C. A., Sottile T. R., Jr, Hudgins L., Sarfarazi M., Tsipouras P. Linkage analysis in Marfan syndrome. J Med Genet. 1990 Feb;27(2):86–90. doi: 10.1136/jmg.27.2.86. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Tsipouras P., Børresen A. L., Bamforth S., Harper P. S., Berg K. Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene. Clin Genet. 1986 Nov;30(5):428–432. [PubMed] [Google Scholar]
  12. de Groote J., Farndon P. A., Kilpatrick M. V., de Paepe A., Oorthuys J. W., Nevin N. C., Child A. H., Pope F. M. Linkage data for Marfan syndrome and markers on chromosomes 1 and 11. J Med Genet. 1990 Feb;27(2):82–85. doi: 10.1136/jmg.27.2.82. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES