Exclusion of the alpha 1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome.
We have used a high frequency site polymorphism within the human pro-alpha 1(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.
Wordsworth
P
P
Ogilvie
D
D
Smith
R
R
Sykes
B
B
D002872:Chromosome Deletion; D003094:Collagen / Q000235:genetics*; D004247:DNA; D004262:DNA Restriction Enzymes; D015247:Deoxyribonuclease HindIII; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D005796:Genes; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
D003094:Collagen; D004247:DNA; D004262:DNA Restriction Enzymes; D015247:Deoxyribonuclease HindIII