A 38 base pair insertion in the pro alpha 2(I) collagen gene of a patient with Marfan syndrome.

Journal Article (Journal Article)

Abnormalities in type I collagen have been recognized in a number of connective tissue disorders. In the Marfan syndrome, an autosomal dominant condition producing a generalized abnormality in connective tissue, no consistent abnormality has been identified, although one individual has been found to have an elongated pro alpha 2(I) collagen chain [Byers et al, Proc Natl Acad Sci USA 78:7745, 1981]. To determine the nature of the alteration in the gene that produced this abnormality, we studied the pro alpha 2(I) gene from this individual by genomic blotting and gene cloning. Genomic mapping studies detected no abnormalities. However, analysis of the cloned segment of the pro alpha 2(I) collagen gene from the Marfan individual indicates that the gene contains a 38 base pair insertion in an intron near the collagenase cleavage site. Although the relationship of this insertion to the protein abnormality is unclear, it may be a useful marker for the diagnosis of the Marfan syndrome.

Full Text

Duke Authors

Cited Authors

  • Henke, E; Leader, M; Tajima, S; Pinnell, S; Kaufman, R

Published Date

  • 1985

Published In

Volume / Issue

  • 27 / 2

Start / End Page

  • 169 - 174

PubMed ID

  • 2985635

International Standard Serial Number (ISSN)

  • 0730-2312

Digital Object Identifier (DOI)

  • 10.1002/jcb.240270210


  • eng

Conference Location

  • United States