title: Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome.
abstract: Amplification of a variable region 3' to the human type II collagen gene (COL2A1) has permitted segregation analysis in a three generation Stickler syndrome pedigree. This family had previously proved uninformative for the known restriction fragment length dimorphisms. Amplification of the variable region revealed five distinguishable alleles, of which three were segregating in this family. The lod score in favour of linkage was 2.86 at zero recombination.
authors.affiliation: Collagen Genetics Group, University of Oxford, John Radcliffe Hospital, UK.
authors.forename: L
authors.initials: L
authors.lastname: Priestley
authors.forename: D
authors.initials: D
authors.lastname: Kumar
authors.forename: B
authors.initials: B
authors.lastname: Sykes
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000483:Alleles; D003094:Collagen / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005784:Gene Amplification; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013577:Syndrome
chemical_list: D005819:Genetic Markers; D003094:Collagen