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A 38 base pair insertion in the proα2(I) collagen gene of a patient with Marfan syndrome

1985; Wiley; Volume: 27; Issue: 2 Linguagem: Inglês

10.1002/jcb.240270210

1097-4644

Elizabeth Henke, Mark Leader, Shingo Tajima, Sheldon R. Pinnell, Russel E. Kaufman,

Proteoglycans and glycosaminoglycans research

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.