Exclusion of the α1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome

Abstract

We have used a high frequency site polymorphism within the human pro-α1(II) collagen gene (COL2A1) in order to examine the segregation of this gene within a large pedigree with type II Ehlers-Danlos syndrome (EDS). The EDS gene and the collagen gene segregate independently within the pedigree and therefore COL2A1 can be excluded as the mutant locus.