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. 1990 Nov;86(1):61-4.
doi: 10.1007/BF00205174.

Cloning of the breakpoints of a deletion associated with choroidermia

F P Cremers  1 , F Brunsmann, W Berger, E P van Kerkhoff, T J van de Pol, B Wieringa, I H Pawlowitzki, H H Ropers
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Cloning of the breakpoints of a deletion associated with choroidermia

F P Cremers et al. Hum Genet. 1990 Nov.

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.

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