title: Linkage studies and deletion screening in choroideremia.
abstract: Fourteen families with choroideremia (TCD) have been examined for linkage to nine genetic markers located on the proximal long arm of the X chromosome. Linkage to three markers (DXYS1, DXS72, DXS3) located in Xq21 was found with a four point lod score of 8.25. No evidence of submicroscopic deletions was observed using DXS233 and DXS232, both thought to lie within about 1 Mb of the TCD gene.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh.
authors.forename: A F
authors.initials: AF
authors.lastname: Wright
authors.forename: R L
authors.initials: RL
authors.lastname: Nussbaum
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
authors.forename: M
authors.initials: M
authors.lastname: Jay
authors.forename: J G
authors.initials: JG
authors.lastname: Lesko
authors.forename: H J
authors.initials: HJ
authors.lastname: Evans
authors.forename: B
authors.initials: B
authors.lastname: Jay
mesh_terms: D015794:Choroideremia / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D015342:DNA Probes; D005260:Female; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
chemical_list: D015342:DNA Probes