title: Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome.
abstract: The COL6A1 and COL6A2 (collagen VI) gene cluster on chromosome 21 is a candidate region for defects leading to congenital heart anomalies in Down's syndrome. We report a variable number of tandem repeats (VNTR) and a restriction fragment length polymorphism (RFLP) in this gene region, detected using a COL6A1 cDNA probe. Linkage disequilibrium relationships were studied among the RFLPs of this gene cluster. The RFLP reported here shows no significant linkage disequilibrium with any others in the region. It has a polymorphism information content value of 0.27, raising the informativity of the locus.
authors.affiliation: Dept. of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, UK.
authors.forename: G E
authors.initials: GE
authors.lastname: Davies
authors.forename: C M
authors.initials: CM
authors.lastname: Howard
authors.forename: L M
authors.initials: LM
authors.lastname: Gorman
authors.forename: M J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: A J
authors.initials: AJ
authors.lastname: Holland
authors.forename: R
authors.initials: R
authors.lastname: Williamson
authors.forename: A M
authors.initials: AM
authors.lastname: Kessling
mesh_terms: D016009:Chi-Square Distribution; D002891:Chromosomes, Human, Pair 21; D003094:Collagen / Q000235:genetics*; D015342:DNA Probes; D015245:Deoxyribonuclease BamHI; D004314:Down Syndrome / Q000235:genetics*; D005787:Gene Frequency; D005796:Genes; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D005810:Multigene Family; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid; D016615:Telomere
chemical_list: D015342:DNA Probes; D003094:Collagen; D015245:Deoxyribonuclease BamHI