Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.
The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers.
D000483:Alleles; D002874:Chromosome Mapping; D003094:Collagen / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D003094:Collagen