title: Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.
abstract: Hereditary arthro-ophthalmopathy (AO), or Stickler syndrome, is a dominantly inherited disorder characterized by vitreo-retinal degeneration and frequently accompanied by epiphyseal dysplasia and premature degenerative joint disease. Three large families with AO were analyzed for clinical manifestations of the disease and for coinheritance of the genetic defect with RFLPs in the type II procollagen gene (COL2A1). Genetic linkage between AO and COL2A1 was demonstrated in the largest family, with a maximum LOD score of 3.52 at a recombination distance of zero. Data from a second family also supported linkage of AO and COL2A1, with a LOD score of 1.20 at a recombination distance of zero. These results are consistent with the conclusion that mutations in the COL2A1 gene are responsible for AO in these two families. In a third AO family, however, recombination between AO and COL2A1 occurred in at least one meiosis, and the data were inconclusive with respect to linkage.
authors.affiliation: Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA.
authors.forename: R G
authors.initials: RG
authors.lastname: Knowlton
authors.forename: E J
authors.initials: EJ
authors.lastname: Weaver
authors.forename: A F
authors.initials: AF
authors.lastname: Struyk
authors.forename: W H
authors.initials: WH
authors.lastname: Knobloch
authors.forename: R A
authors.initials: RA
authors.lastname: King
authors.forename: K
authors.initials: K
authors.lastname: Norris
authors.forename: A
authors.initials: A
authors.lastname: Shamban
authors.forename: J
authors.initials: J
authors.lastname: Uitto
authors.forename: S A
authors.initials: SA
authors.lastname: Jimenez
authors.forename: D J
authors.initials: DJ
authors.lastname: Prockop
mesh_terms: D002881:Chromosomes, Human, Pair 12; D003094:Collagen / Q000235:genetics*; D003240:Connective Tissue Diseases / Q000235:genetics; D015342:DNA Probes; D005128:Eye Diseases / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011347:Procollagen / Q000235:genetics*; D011995:Recombination, Genetic; D013577:Syndrome
chemical_list: D015342:DNA Probes; D011347:Procollagen; D003094:Collagen