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Titolo:
A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion
Autore:
Panagopoulos, I; Lassen, C; Kristoffersson, U; Aman, P;
Indirizzi:
Univ Hosp, Dept Clin Genet, Lund, Sweden Univ Hosp Lund SwedenUniv Hosp, Dept Clin Genet, Lund, Sweden
Titolo Testata:
HUMAN MUTATION
fascicolo: 3, volume: 13, anno: 1999,
pagine: 232 - 236
SICI:
1059-7794(1999)13:3<232:ANPAFT>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
SODIUM BISULFITE; (CAG)(N) REPEATS; CYTOSINE; URACIL; CAG; DNA; METHYLATION; DERIVATIVES; POLYMERASE; RESIDUES;
Keywords:
bisulfite treatment; CAG repeats; diagnostic test; direct visualization; ethidium bromide; Huntington disease; methylation; PCR;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Panagopoulos, I Univ Lund, Wallenberg Neurosci Ctr, Sect Mol Med & Gene Therapy, Solvegatan Univ Lund Solvegatan 17 Lund Sweden S-22362 y, Solvegatan
Citazione:
I. Panagopoulos et al., "A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion", HUM MUTAT, 13(3), 1999, pp. 232-236

Abstract

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder associated with expansions of an unstable CAG trinucleotide repeat in exon 1 of the IT15 gene. In normal individuals, IT15 contains up to 35 CAG repeats, while in affected the repeat length is >36, Polymerase chain reaction(PCR) is used to estimate the number of CAG repeats but may be inefficientin long repeats because of the high C+G content of the HD locus. We present a novel PCR approach for the diagnosis of HD, which permits direct visualization of the amplified products on agarose gel, using ethidium bromide. It is based on the methylation sensitive conversion of C residues to U by bisulfite treatment of single-stranded DNA and subsequent amplification of the sense strand with specific primers. The bisulfite treatment dramatically reduces the C+G content of the region; thus, the high Tm and stable secondary structures are no longer obstacles to PCR. Zn both normal and affected individuals, UAG repeats (5'-CAG-3', before bisulfite treatment) in the sense strand can easily be amplified and visualized on a gel by ethidium bromide staining. The method has considerable advantages compared with other described PCR-based diagnostic tests for HD. Hum Mutat 13:232-236, 1999. (C) 1999 Wiley-Liss, Inc.

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Documento generato il 07/04/20 alle ore 23:05:51