title: Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.
abstract: Inherited retinal dystrophies are the most common cause of childhood blindness in the developed world. Cone-rod retinal dystrophies are severe examples of this group of disorders. Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics. Two-point linkage analysis showed significant linkage with three markers mapping to chromosome 19q. Multipoint analysis gave a maximum lod score of 10.08 (theta = 0.05) distal to D19S47. Cone-rod dystrophy is therefore assigned to 19q13.1-q13.2 and a new candidate locus for other retinal dystrophies is identified.
authors.affiliation: Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
authors.forename: K
authors.initials: K
authors.lastname: Evans
authors.forename: A
authors.initials: A
authors.lastname: Fryer
authors.forename: C
authors.initials: C
authors.lastname: Inglehearn
authors.forename: J
authors.initials: J
authors.lastname: Duvall-Young
authors.forename: J L
authors.initials: JL
authors.lastname: Whittaker
authors.forename: C Y
authors.initials: CY
authors.lastname: Gregory
authors.forename: R
authors.initials: R
authors.lastname: Butler
authors.forename: N
authors.initials: N
authors.lastname: Ebenezer
authors.forename: D M
authors.initials: DM
authors.lastname: Hunt
authors.forename: S
authors.initials: S
authors.lastname: Bhattacharya
mesh_terms: D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004739:England; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009630:Nondisjunction, Genetic; D010375:Pedigree; D011110:Polymorphism, Genetic; D012162:Retinal Degeneration / Q000235:genetics*
chemical_list: D005819:Genetic Markers