Cloning of the breakpoints of a deletion associated with choroideremia |
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| Authors: | F P M Cremers F Brunsmann W Berger E P M van Kerkhoff T J R van de Pol B Wieringa I H Pawlowitzki H H Ropers |
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| Institution: | (1) Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500 HB Nijmegen, The Netherlands;(2) Institut für Humangenetik der Universität, W-4400 Münster, Germany |
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| Abstract: | Summary 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.This work was presented in part at the 5th International Retinitis Pigmentosa Congress, Melbourne 1988 |
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