title: Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.
abstract: Autosomal dominant osteogenesis imperfecta (OI) is a heterogeneous group of disorders. Molecular haplotypes associated with the pro alpha 2(I) gene of human type I procollagen were used for genetic linkage studies in a group of 10 families with OI. The clinical phenotypes of the families studied were those of OI type I and OI type IV. Evidence for linkage was highly suggestive in the four families with OI type IV (Z = 3.91 for theta = 0). In contrast, little or no indication for linkage was found in the six families with OI type I (Z = .055 for theta = .415). Heterogeneity between the two groups of families was highly significant (chi 2 = 11.14, P = .0008), suggesting that at least two separate gene defects may be the cause of the autosomal dominant forms of OI.
mesh_terms: D000483:Alleles; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D011347:Procollagen / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D011347:Procollagen; D004247:DNA; D004262:DNA Restriction Enzymes