Identification of an HD patient with a (CAG)180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage |
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Authors: | Kirupa Sathasivam Iheoma Amaechi Laura Mangiarini G Bates |
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Institution: | (1) Medical and Molecular Genetics, UMDS, 8th Floor Guy’s Tower, Guy’s Hospital, London SE1 9RT, UK Fax: +44-171-955-4644, GB |
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Abstract: | The Huntington’s disease mutation has been identified as a CAG/polyglutamine repeat expansion in a large gene of unknown
function. In order to develop the transgenic systems necessary to uncover the molecular pathology of this disorder, it is
necessary to be able to manipulate highly expanded CAG repeats in a cloned form. We have identified a patient with an expanded
allele of greater than 170 repeat units and have cloned the mutant allele in the lambda zap vector. The recovery of highly
expanded repeats after clone propagation was more efficient when repeats were maintained as lambda phage clones rather than
as the plasmid counterparts. Manipulation of the repeats as phage clones has enabled us to generate Huntington’s disease transgenic
mice that contain highly expanded (CAG)115–(CAG)150 repeats and that develop a progressive neurological phenotype.
Received: 7 October 1996 / Revised: 5 December 1996 |
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