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Titolo:
Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard
Autore:
Bruland, O; Almqvist, EW; Goldberg, YP; Boman, H; Hayden, MR; Knappskog, PM;
Indirizzi:
Haukeland Univ Hosp, Dept Med Genet, N-5021 Bergen, Norway Haukeland Univ Hosp Bergen Norway N-5021 ed Genet, N-5021 Bergen, Norway UnivBCritish Columbia, Ctr Mol Med & Therapeut, Dept Med Genet, Vancouver,Univ British Columbia Vancouver BC Canada V5Z 1M9 t Med Genet, Vancouver,
Titolo Testata:
CLINICAL GENETICS
fascicolo: 3, volume: 55, anno: 1999,
pagine: 198 - 202
SICI:
0009-9163(199903)55:3<198:ADOTNO>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Keywords:
CAG repeats; capillary electrophoresis; Huntington disease;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
8
Recensione:
Indirizzi per estratti:
Indirizzo: Knappskog, PM Haukeland Univ Hosp, Dept Med Genet, N-5021 Bergen, Norway Haukeland Univ Hosp Bergen Norway N-5021 21 Bergen, Norway
Citazione:
O. Bruland et al., "Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard", CLIN GENET, 55(3), 1999, pp. 198-202

Abstract

We have developed a sequence-specific internal DNA size standard for the accurate determination of the number of CAG repeats in the Huntington disease (HD) gene by cloning key fragments (between 15 and 64 CAG repeats) of theHD gene. These fragments, pooled to produce a sequence-specific DNA ladder, enabled us to observe the true number of CAG repeats directly, with no need for calculations. Comparison of the calculated numbers of CAG repeats inthe HD gene using this sequence-specific DNA standard with a commercially available standard (GENESCAN-500 TAMRA) showed that the latter underestimated the number of CAG repeats by three when analyzed by capillary electrophoresis on the ABI 310 Genetic Analyzer (POP4 polymer). In contrast, the use of the same standard overestimated the number of CAG repeats by one when the samples were analyzed by denaturing polyacrylamide electrophoresis on ABI377 DNA Sequencer (6% denaturing polyacrylamide gel). This suggests that our sequence-specific standard provides greater accuracy for the determination of the true number of CAG repeats in the HD gene than commercially available standards. The sequence-specific standard can be radioactively labeledand successfully replace conventional DNA size standards when analyzing polymerase chain reaction (PCR)-amplified HD alleles by denaturing polyacrylamide electrophoresis.

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Documento generato il 04/04/20 alle ore 08:17:49