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

  • 1 March 1986
    • journal article
    • research article
    • Vol. 38  (3) , 269-279
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 .cxa..theta. = 0). In contrast, little or no indication for linkage was found in the six families with OI type I (Z = .055 for .cxa..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.