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Cloning of the breakpoints of a deletion associated with choroidermia
F P Cremers1, F Brunsmann, W Berger
1Department of Human Genetics, University Hospital, University of Nijmegen, The Netherlands.
Human Genetics
|November 1, 1990
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.