Skip to main content
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1991 May 15;88(10):4486–4488. doi: 10.1073/pnas.88.10.4486

Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

P Tsipouras 1, M Sarfarazi 1, A Devi 1, B Weiffenbach 1, M Boxer 1
PMCID: PMC51685  PMID: 2034688

Abstract

Marfan syndrome is a systemic disorder of the connective tissue inherited as an autosomal dominant trait. The disorder imparts significant morbidity and mortality. The etiology of the disorder remains elusive. A recent study localized the gene for Marfan syndrome on chromosome 15. We present data showing that marker D15S48 is genetically linked to Marfan syndrome. Pairwise linkage analysis gave a maximum lod (logarithm of odds) score of Z = 11.78 at theta = 0.02. Furthermore our data suggest that the Marfan syndrome locus is possibly flanked on either side by D15S48 and D15S49.

Full text

PDF
4486

Selected References

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

  1. Abraham P. A., Perejda A. J., Carnes W. H., Uitto J. Marfan syndrome. Demonstration of abnormal elastin in aorta. J Clin Invest. 1982 Dec;70(6):1245–1252. doi: 10.1172/JCI110723. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Appel A., Horwitz A. L., Dorfman A. Cell-free synthesis of hyaluronic acid in Marfan syndrome. J Biol Chem. 1979 Dec 10;254(23):12199–12203. [PubMed] [Google Scholar]
  3. Balazs I., Baird M., Clyne M., Meade E. Human population genetic studies of five hypervariable DNA loci. Am J Hum Genet. 1989 Feb;44(2):182–190. [PMC free article] [PubMed] [Google Scholar]
  4. 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. An exclusion map of Marfan syndrome. J Med Genet. 1990 Feb;27(2):73–77. doi: 10.1136/jmg.27.2.73. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Brissenden J. E., Page D. C., de Martinville B., Trowsdale J., Botstein D., Francke U. Regional assignments of three polymorphic DNA segments on human chromosome 15. Genet Epidemiol. 1986;3(4):231–239. doi: 10.1002/gepi.1370030404. [DOI] [PubMed] [Google Scholar]
  6. Conneally P. M., Edwards J. H., Kidd K. K., Lalouel J. M., Morton N. E., Ott J., White R. Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet. 1985;40(1-4):356–359. doi: 10.1159/000132186. [DOI] [PubMed] [Google Scholar]
  7. Dausset J. Le centre d'étude du polymorphisme humain. Presse Med. 1986 Oct 18;15(36):1801–1802. [PubMed] [Google Scholar]
  8. Derouette S., Hornebeck W., Loisance D., Godeau G., Cachera J. P., Robert L. Studies on elastic tissue of aorta in aortic dissections and Marfan syndrome. Pathol Biol (Paris) 1981 Nov;29(9):539–547. [PubMed] [Google Scholar]
  9. Donis-Keller H., Green P., Helms C., Cartinhour S., Weiffenbach B., Stephens K., Keith T. P., Bowden D. W., Smith D. R., Lander E. S. A genetic linkage map of the human genome. Cell. 1987 Oct 23;51(2):319–337. doi: 10.1016/0092-8674(87)90158-9. [DOI] [PubMed] [Google Scholar]
  10. Feinberg A. P., Vogelstein B. "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem. 1984 Feb;137(1):266–267. doi: 10.1016/0003-2697(84)90381-6. [DOI] [PubMed] [Google Scholar]
  11. Gibson M. A., Kumaratilake J. S., Cleary E. G. The protein components of the 12-nanometer microfibrils of elastic and nonelastic tissues. J Biol Chem. 1989 Mar 15;264(8):4590–4598. [PubMed] [Google Scholar]
  12. Hollister D. W., Godfrey M., Sakai L. Y., Pyeritz R. E. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med. 1990 Jul 19;323(3):152–159. doi: 10.1056/NEJM199007193230303. [DOI] [PubMed] [Google Scholar]
  13. Kainulainen K., Pulkkinen L., Savolainen A., Kaitila I., Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med. 1990 Oct 4;323(14):935–939. doi: 10.1056/NEJM199010043231402. [DOI] [PubMed] [Google Scholar]
  14. Kumaratilake J. S., Gibson M. A., Fanning J. C., Cleary E. G. The tissue distribution of microfibrils reacting with a monospecific antibody to MAGP, the major glycoprotein antigen of elastin-associated microfibrils. Eur J Cell Biol. 1989 Oct;50(1):117–127. [PubMed] [Google Scholar]
  15. Lander E. S., Green P. Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci U S A. 1987 Apr;84(8):2363–2367. doi: 10.1073/pnas.84.8.2363. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Maddox B. K., Sakai L. Y., Keene D. R., Glanville R. W. Connective tissue microfibrils. Isolation and characterization of three large pepsin-resistant domains of fibrillin. J Biol Chem. 1989 Dec 15;264(35):21381–21385. [PubMed] [Google Scholar]
  18. Murdoch J. L., Walker B. A., Halpern B. L., Kuzma J. W., McKusick V. A. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med. 1972 Apr 13;286(15):804–808. doi: 10.1056/NEJM197204132861502. [DOI] [PubMed] [Google Scholar]
  19. Nakamura Y., Lathrop M., O'Connell P., Leppert M., Lalouel J. M., White R. A mapped set of DNA markers for human chromosome 15. Genomics. 1988 Nov;3(4):342–346. doi: 10.1016/0888-7543(88)90125-5. [DOI] [PubMed] [Google Scholar]
  20. Nakashima Y. Reduced activity of serum beta-glucuronidase in Marfan syndrome. Angiology. 1986 Aug;37(8):576–580. doi: 10.1177/000331978603700804. [DOI] [PubMed] [Google Scholar]
  21. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974 Sep;26(5):588–597. [PMC free article] [PubMed] [Google Scholar]
  22. Pulkkinen L., Kainulainen K., Krusius T., Mäkinen P., Schollin J., Gustavsson K. H., Peltonen L. Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome. J Biol Chem. 1990 Oct 15;265(29):17780–17785. [PubMed] [Google Scholar]
  23. 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]
  24. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  25. 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]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES