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

✍ Scribed by Elizabeth Henke; Mark Leader; Shingo Tajima; Sheldon Pinnell; Russel Kaufman

Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
385 KB
Volume
27
Category
Article
ISSN
0730-2312

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✦ Synopsis

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 proa2(1) collagen chain [Byers et al, Proc Natl Acad Sci USA 78:7745, 19811. To determine the nature of the alteration in the gene that produced this abnormality, we studied the proa2(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 proa2(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.

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