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. 1987 Mar;24(3):148–151. doi: 10.1136/jmg.24.3.148

Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

R Dalgleish, J R Hawkins, M Keston
PMCID: PMC1049947  PMID: 2883320

Abstract

The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers.

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Selected References

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

  1. Bruno L., Tredici S., Mangiavacchi M., Colombo V., Mazzotta G. F., Sirtori C. R. Cardiac, skeletal, and ocular abnormalities in patients with Marfan's syndrome and in their relatives. Comparison with the cardiac abnormalities in patients with kyphoscoliosis. Br Heart J. 1984 Feb;51(2):220–230. doi: 10.1136/hrt.51.2.220. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Byers P. H., Siegel R. C., Peterson K. E., Rowe D. W., Holbrook K. A., Smith L. T., Chang Y. H., Fu J. C. Marfan syndrome: abnormal alpha 2 chain in type I collagen. Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745–7749. doi: 10.1073/pnas.78.12.7745. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Dalgleish R., Woodhouse M., Reeders S. An RFLP associated with the human type III collagen gene (COL3A1). Nucleic Acids Res. 1985 Jun 25;13(12):4609–4609. doi: 10.1093/nar/13.12.4609. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. 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]
  5. Gott V. L., Pyeritz R. E., Magovern G. J., Jr, Cameron D. E., McKusick V. A. Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients. N Engl J Med. 1986 Apr 24;314(17):1070–1074. doi: 10.1056/NEJM198604243141702. [DOI] [PubMed] [Google Scholar]
  6. Grobler-Rabie A. F., Wallis G., Brebner D. K., Beighton P., Bester A. J., Mathew C. G. Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBO J. 1985 Jul;4(7):1745–1748. doi: 10.1002/j.1460-2075.1985.tb03845.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Jeffreys A. J., Wilson V., Thein S. L. Hypervariable 'minisatellite' regions in human DNA. Nature. 1985 Mar 7;314(6006):67–73. doi: 10.1038/314067a0. [DOI] [PubMed] [Google Scholar]
  8. Jeffreys A. J., Wilson V., Thein S. L., Weatherall D. J., Ponder B. A. DNA "fingerprints" and segregation analysis of multiple markers in human pedigrees. Am J Hum Genet. 1986 Jul;39(1):11–24. [PMC free article] [PubMed] [Google Scholar]
  9. LYNAS M. A. Marfan's syndrome in Northern Ireland; an account of thirteen families. Ann Hum Genet. 1958 Jul;22(4):289–309. doi: 10.1111/j.1469-1809.1958.tb01423.x. [DOI] [PubMed] [Google Scholar]
  10. 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]
  11. Prockop D. J. Mutations in collagen genes. Consequences for rare and common diseases. J Clin Invest. 1985 Mar;75(3):783–787. doi: 10.1172/JCI111773. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Pyeritz R. E., McKusick V. A. Basic defects in Marfan syndrome. N Engl J Med. 1981 Oct 22;305(17):1011–1012. doi: 10.1056/NEJM198110223051711. [DOI] [PubMed] [Google Scholar]
  13. 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]
  14. Solomon E., Hiorns L. R., Spurr N., Kurkinen M., Barlow D., Hogan B. L., Dalgleish R. Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family. Proc Natl Acad Sci U S A. 1985 May;82(10):3330–3334. doi: 10.1073/pnas.82.10.3330. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Solomon E., Hiorns L., Dalgleish R., Tolstoshev P., Crystal R., Sykes B. Regional localization of the human alpha 2(I) collagen gene on chromosome 7 by molecular hybridization. Cytogenet Cell Genet. 1983;35(1):64–66. doi: 10.1159/000131838. [DOI] [PubMed] [Google Scholar]
  16. Sykes B., Ogilvie D., Wordsworth P., Anderson, Jones N. Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet. 1986 Jul 12;2(8498):69–72. doi: 10.1016/s0140-6736(86)91609-0. [DOI] [PubMed] [Google Scholar]
  17. Sykes B., Smith R., Vipond S., Paterson C., Cheah K., Solomon E. Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta. J Med Genet. 1985 Jun;22(3):187–191. doi: 10.1136/jmg.22.3.187. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Tajima S., Ting J. P., Pinnell S. R., Kaufman R. E. Isolation and characterization of a human pro alpha 2(I) collagen gene segment. J Invest Dermatol. 1984 Mar;82(3):265–269. doi: 10.1111/1523-1747.ep12260213. [DOI] [PubMed] [Google Scholar]

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