Cloning of the breakpoints of a deletion associated with choroidermia.
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.
Cremers
F P
FP
Department of Human Genetics, University Hospital, University of Nijmegen, The Netherlands.
Brunsmann
F
F
Berger
W
W
van Kerkhoff
E P
EP
van de Pol
T J
TJ
Wieringa
B
B
Pawlowitzki
I H
IH
Ropers
H H
HH
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
D015246:Deoxyribonuclease EcoRI