title: Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
abstract: Autosomal recessive retinitis pigmentosa (arRP) is a genetically and clinically heterogeneous and progressive degenerative disorder of the retina, leading usually to severe visual handicap in adulthood. To date, disease loci/genes have been mapped/identified only in a minority of cases. DNA samples were collected from 20 large consanguineous Indian families, in which arRP segregated and that were suitable for homozygosity mapping of the disease locus. After excluding linkage to all known arRP loci, a genome-wide scan was initiated. In two families, homozygosity mapping, haplotype analysis, and linkage data mapped the disease locus (RP22) in an approximately 16-cM region between D16S287 and D16S420 on the proximal short arm of chromosome 16. No mutation has been found by direct sequencing in the gene (CRYM) encoding micron crystallin, which maps in the critical region.
authors.affiliation: Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Finckh
authors.forename: S
authors.initials: S
authors.lastname: Xu
authors.forename: G
authors.initials: G
authors.lastname: Kumaramanickavel
authors.forename: M
authors.initials: M
authors.lastname: Schürmann
authors.forename: J K
authors.initials: JK
authors.lastname: Mukkadan
authors.forename: S T
authors.initials: ST
authors.lastname: Fernandez
authors.forename: S
authors.initials: S
authors.lastname: John
authors.forename: J L
authors.initials: JL
authors.lastname: Weber
authors.forename: M J
authors.initials: MJ
authors.lastname: Denton
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D003241:Consanguinity; D003459:Crystallins / Q000235:genetics; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D018895:Microsatellite Repeats; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D000090803:mu-Crystallins
chemical_list: C000716469:CRYM protein, human; D003459:Crystallins; D000090803:mu-Crystallins