Cloning of the breakpoints of a deletion associated with choroidermia

F P Cremers; F Brunsmann; W Berger; E P van Kerkhoff; T J van de Pol; B Wieringa; I H Pawlowitzki; H H Ropers

doi:10.1007/BF00205174

Cloning of the breakpoints of a deletion associated with choroidermia

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

Authors

F P Cremers¹, F Brunsmann, W Berger, E P van Kerkhoff, T J van de Pol, B Wieringa, I H Pawlowitzki, H H Ropers

Affiliation

¹ Department of Human Genetics, University Hospital, University of Nijmegen, The Netherlands.

PMID: 1979308
DOI: 10.1007/BF00205174

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Blotting, Southern
Choroideremia / genetics*
Chromosome Deletion*
Cloning, Molecular
Deoxyribonuclease EcoRI
Female
Genetic Carrier Screening
Humans
Male
Pedigree
Polymorphism, Restriction Fragment Length
Restriction Mapping

Substances

Deoxyribonuclease EcoRI