A 38 base pair insertion in the pro?2(I) collagen gene of a patient with Marfan syndrome
- 1 January 1985
- journal article
- research article
- Published by Wiley in Journal of Cellular Biochemistry
- Vol. 27 (2), 169-174
- https://doi.org/10.1002/jcb.240270210
Abstract
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 proα2(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 proα2(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 proα2(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.Keywords
This publication has 20 references indexed in Scilit:
- Isolation and Characterization of a Human Pro α2(I) Collagen Gene SegmentJournal of Investigative Dermatology, 1984
- Structure of a cDNA for the pro.alpha.2 chain of human type I procollagen. Comparison with chick cDNA for pro.alpha.2(I) identifies structurally conserved features of the protein and the geneBiochemistry, 1983
- Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.JCI Insight, 1983
- Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.Proceedings of the National Academy of Sciences, 1982
- Marfan syndrome: abnormal alpha 2 chain in type I collagen.Proceedings of the National Academy of Sciences, 1981
- The Marfan Syndrome: A Deficiency in Chemically Stable Collagen Cross-LinksNew England Journal of Medicine, 1981
- Organization of human δ- and β-globin genes in cellular DNA and the presence of intragenic insertsCell, 1978
- DNA sequencing with chain-terminating inhibitorsProceedings of the National Academy of Sciences, 1977
- Detection of specific sequences among DNA fragments separated by gel electrophoresisJournal of Molecular Biology, 1975
- Collagen of Marfan Syndrome is Abnormally SolubleNature, 1973