title: Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups.
abstract: As part of our ongoing linkage studies of degenerative retinal diseases, we tested seven DNA markers and two classical genetic markers from chromosome 4 in two extended families with autosomal dominant retinitis pigmentosa (ADRP). Our goals were (1) to detect or exclude linkage of ADRP to markers spanning most of chromosome 4 and (2) to contribute useful new information regarding the linkage map of this chromosome. Our results exclude linkage of ADRP from more than 82% of chromosome 4. We detected four new linkage relationships: loose linkage of K082 (D4S10) and G1E5 (D4S21) at a distance of 21 cM; loose linkage of 4F2 (D4S18) and GC protein at a distance of 19 cM; tight linkage (i.e., no recombinants) between B3D (D4S44), B5A (D4S40), and the MNS blood group; and tight linkage between 4F2 and GDS5 (D4S23). These data, combined with previously reported data, exclude ADRP from approximately 35% of the human genome.
authors.affiliation: Graduate School of Biomedical Sciences, University of Texas Health Science Center, Houston.
authors.forename: S P
authors.initials: SP
authors.lastname: Daiger
authors.forename: M M
authors.initials: MM
authors.lastname: Humphries
authors.forename: N
authors.initials: N
authors.lastname: Giesenschlag
authors.forename: E
authors.initials: E
authors.lastname: Sharp
authors.forename: P
authors.initials: P
authors.lastname: McWilliam
authors.forename: J
authors.initials: J
authors.lastname: Farrer
authors.forename: D
authors.initials: D
authors.lastname: Bradley
authors.forename: P
authors.initials: P
authors.lastname: Kenna
authors.forename: D J
authors.initials: DJ
authors.lastname: McConnell
authors.forename: R S
authors.initials: RS
authors.lastname: Sparkes
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002648:Child; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D004247:DNA / Q000302:isolation & purification; D003627:Data Interpretation, Statistical; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004247:DNA