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Research Article Free access | 10.1172/JCI114897

A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome.

C L Phillips, A W Shrago-Howe, S R Pinnell, and R J Wenstrup

Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.

Find articles by Phillips, C. in: PubMed | Google Scholar

Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.

Find articles by Shrago-Howe, A. in: PubMed | Google Scholar

Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.

Find articles by Pinnell, S. in: PubMed | Google Scholar

Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.

Find articles by Wenstrup, R. in: PubMed | Google Scholar

Published November 1, 1990 - More info

Published in Volume 86, Issue 5 on November 1, 1990
J Clin Invest. 1990;86(5):1723–1728. https://doi.org/10.1172/JCI114897.
© 1990 The American Society for Clinical Investigation
Published November 1, 1990 - Version history
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Abstract

A substitution for a highly conserved non-glycine residue in the triple-helical domain of the pro alpha 2(I) collagen molecule was found in an individual with a variant of the Marfan syndrome. A single base change resulted in substitution of arginine618 by glutamine at the Y position of a Gly-X-Y repeat, and is responsible for the decreased migration in SDS-polyacrylamide gels of some pro alpha 2(I) chains of type I collagen synthesized by dermal fibroblasts from this individual. Family studies suggest that this substitution was inherited from the individual's father who also produces abnormally migrating pro alpha 2(I) collagen chains and shares some of the abnormal skeletal features. This single base change creates a new Bsu36 I (Sau I, Mst II) restriction site detectable in genomic DNA by Southern blot analysis when probed with a COL1A2 fragment. The analysis of 52 control individuals (103 chromosomes) was negative for the new Bsu36 I site, suggesting that the substitution is not a common polymorphism.

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