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.
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Cremers, F.P.M., Brunsmann, F., Berger, W. et al. Cloning of the breakpoints of a deletion associated with choroideremia. Hum Genet 86, 61–64 (1990). https://doi.org/10.1007/BF00205174
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DOI: https://doi.org/10.1007/BF00205174