Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA

Nature Genetics
M D KoobL P Ranum

Abstract

Trinucleotide repeat expansions have been shown to cause a number of neurodegenerative diseases. A hallmark of most of these diseases is the presence of anticipation, a decrease in the age at onset in consecutive generations due to the tendency of the unstable trinucleotide repeat to lengthen when passed from one generation to the next. The involvement of trinucleotide repeat expansions in a number of other diseases--including familial spastic paraplegia, schizophrenia, bipolar affective disorder and spinocerebellar ataxia type 7 (SCA7; ref. 10)--is suggested both by the presence of anticipation and by repeat expansion detection (RED) analysis of genomic DNA samples. The involvement of trinucleotide expansions in these diseases, however, can be conclusively confirmed only by the isolation of the expansions present in these populations and detailed analysis to assess each expansion as a possible pathogenic mutation. We describe a novel procedure for quick isolation of expanded trinucleotide repeats and the corresponding flanking nucleotide sequence directly from small amounts of genomic DNA by a process of Repeat Analysis, Pooled Isolation and Detection of individual clones containing expanded trinucleotide repeats (RAPID clonin...Continue Reading

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Citations

Apr 18, 2008·The Cerebellum·Yoshio IkedaLaura P W Ranum
Apr 18, 2008·The Cerebellum·Giovanni Stevanin, Alexis Brice
Nov 24, 1999·Clinical Genetics·A NardacchioneM De Marchi
Mar 4, 2000·Nature Genetics·M L MoseleyL P Ranum
Sep 16, 1998·Human Molecular Genetics·G StevaninA Brice
Aug 11, 1999·Human Molecular Genetics·M D KaytorH T Orr
Jun 17, 2006·Annual Review of Neuroscience·Laura P W Ranum, Thomas A Cooper
Sep 17, 2013·PloS One·I-Cheng ChenGuey-Jen Lee-Chen
Jun 24, 2008·Neuropsychiatric Disease and Treatment·Viktor Honti, László Vécsei
Aug 30, 2003·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Xueping FanGuy A Rouleau
Sep 15, 2004·Trends in Genetics : TIG·Laura P W Ranum, John W Day
Feb 11, 1999·American Journal of Human Genetics·L ZuS M Pulst
Aug 11, 2015·Experimental Neurology·Zhen XuSheng Zhang
May 21, 2004·American Journal of Human Genetics·Yoshio IkedaLaura P W Ranum
Jul 20, 2002·Experimental Eye Research·Tomas S AlemanSamuel G Jacobson
May 15, 2015·Journal of the Neurological Sciences·Karina Carvalho DonisJonas Alex Saute
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