Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation.
A 300 base pair deletion near the 3'-end of the gene encoding Type II (cartilage) collagen has been implicated in the pathogenesis of perinatal lethal osteogenesis imperfecta. We have found similar deletions occurring at a high frequency in normal Asian Indian and West Indian populations generated by a length polymorphism just beyond the 3'-end of the gene. We suggest that this polymorphism provides an alternative explanation of the original results.
D001482:Base Composition; D002872:Chromosome Deletion; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005796:Genes; D006579:Heterozygote; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D011110:Polymorphism, Genetic; D012306:Risk
D003094:Collagen; D004247:DNA