title: Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4).
abstract: We report the characterization of a new eight-allele microsatellite (D3S621) isolated from a human chromosome 3 library. Two-point and multi-locus genetic linkage analysis have shown D3S621 to co-segregate with the previously mapped RP4 (theta m = 0.12, Zm = 4.34) and with other genetic markers on the long arm of the chromosome, including D3S14 (R208) (theta m = 0.00, Zm = 15.10), D3S47 (C17) (theta m = 0.11, Zm = 4.95), Rho (theta m = 0.07, Zm = 1.37), D3S21 (L182) (theta m = 0.07, Zm = 2.40) and D3S19 (U1) (theta m = 0.13, Zm = 2.78). This highly informative marker, with a polymorphic information content of 0.78, should be of considerable value in the extension of linkage data for autosomal dominant retinitis pigmentosa with respect to locii on the long arm of chromosome 3.
authors.affiliation: Department of Genetics, Trinity College, Dublin, Ireland.
authors.forename: R
authors.initials: R
authors.lastname: Kumar-Singh
authors.forename: D G
authors.initials: DG
authors.lastname: Bradley
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
authors.forename: M
authors.initials: M
authors.lastname: Lawler
authors.forename: S A
authors.initials: SA
authors.lastname: Jordan
authors.forename: P
authors.initials: P
authors.lastname: Humphries
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004276:DNA, Satellite / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers