title: Cloning of the breakpoints of a deletion associated with choroidermia.
abstract: In order to characterize a previously described submicroscopic deletion encompassing (part of) the choroideremia (tapetochoroidal dystrophy: TCD) gene, we have cloned a 10.5-kb EcoRI fragment from the patient's DNA; this fragment carries the junction between both deletion endpoints ("junction fragment"). The distal portion of this fragment defines a new marker within, or just distal to, the TCD gene. This marker has been employed to confirm the diagnosis in several affected family members, and to rule out carriership in a female at risk with conspicuous clinical signs.
authors.affiliation: Department of Human Genetics, University Hospital, University of Nijmegen, The Netherlands.
authors.forename: F P
authors.initials: FP
authors.lastname: Cremers
authors.forename: F
authors.initials: F
authors.lastname: Brunsmann
authors.forename: W
authors.initials: W
authors.lastname: Berger
authors.forename: E P
authors.initials: EP
authors.lastname: van Kerkhoff
authors.forename: T J
authors.initials: TJ
authors.lastname: van de Pol
authors.forename: B
authors.initials: B
authors.lastname: Wieringa
authors.forename: I H
authors.initials: IH
authors.lastname: Pawlowitzki
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
mesh_terms: D015139:Blotting, Southern; D015794:Choroideremia / Q000235:genetics*; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D015246:Deoxyribonuclease EcoRI; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping
chemical_list: D015246:Deoxyribonuclease EcoRI