Cremers F P, Brunsmann F, Berger W, van Kerkhoff E P, van de Pol T J, Wieringa B, Pawlowitzki I H, Ropers H H
Department of Human Genetics, University Hospital, University of Nijmegen, The Netherlands.
Hum Genet. 1990 Nov;86(1):61-4. doi: 10.1007/BF00205174.
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.
