Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta. Issue 3 (June 1985)

• Record Type: Journal Article
• Authors: Sykes, B; Smith, R; Vipond, S; Paterson, C; Cheah, K; Solomon, E
• Is Part Of: Journal of medical genetics. Volume 22:Issue 3(1985)
• Page Start: 187
• Page End: 191
• Publication Date: 1985-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.22.3.187
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Using two restriction site polymorphisms within the structural gene coding for human type II collagen we have examined the segregation of this gene in three pedigrees with dominantly inherited osteogenesis imperfecta (Sillence type IA). We have demonstrated that the gene does not segregate with clinical expression of the disease and cannot, therefore, contain the mutation responsible for osteogenesis imperfecta in these families.