Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33 |
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Authors: | Laurence Taine Isabelle Coupry Pierre Boisseau R. Saura Didier Lacombe Benoît Arveiler |
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Affiliation: | Laboratoire de Pathologie Moléculaire et Thérapie Génique, Université Victor Segalen Bordeaux 2, France Fax: +33556983348; e-mail: benoit.arveiler@pmtg.u-bordeaux2.fr, FR Service de Pédiatrie et Génétique Médicale, H?pital Pellegrin Enfants, CHU de Bordeaux, France, FR
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Abstract: | Mutations in ion channels have been shown to be responsible for a variety of neurological and muscular diseases. The voltage-gated chloride channel CLCN3 was recently mapped to chromosomal region 4q32. We are analysing a young female patient with Wolf-Hirschhorn syndrome and chorea associated with an inversion-deletion of chromosome 4 [46XX,inv(4)del(4)(qter→q33:: p15.32→q33]. Considering that chorea in this patient might be due to the disruption of a gene at either of the 4p15.32 or 4q33 breakpoints, CLCN3 was considered as a candidate gene. We showed by FISH analysis with a CLCN3 YAC that the gene was not broken by the inv-del event, and was therefore an unlikely candidate. Using high resolution techniques, we refined the localisation of CLCN3 to 4q33. Received: 15 June 1997 / Accepted: 5 November 1997 |
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