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Titolo:
Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b
Autore:
Toliat, MR; Erdogan, F; Gewies, A; Fahsold, R; Buske, A; Tinschert, S; Nurnberg, P;
Indirizzi:
Univ Klinikum Charite, Inst Med Genet, D-10098 Berlin, Germany Univ Klinikum Charite Berlin Germany D-10098 et, D-10098 Berlin, Germany Gemeinschaftspraxis B Prager & A Junge, Dresden, Germany Gemeinschaftspraxis B Prager & A Junge Dresden Germany Dresden, Germany
Titolo Testata:
ELECTROPHORESIS
fascicolo: 3, volume: 21, anno: 2000,
pagine: 541 - 544
SICI:
0173-0835(200002)21:3<541:AOTNGB>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEUROFIBROMATOSIS TYPE-1 GENE; GAP ACTIVITY; EXPRESSION; DELETION; DGGE;
Keywords:
temperature gradient electrophoresis; mutation analysis; NF1 gene; exon 4b; tandem repeat; mutation hotspot;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Nurnberg, P Univ Klinikum Charite, Inst Med Genet, D-10098 Berlin, GermanyUniv Klinikum Charite Berlin Germany D-10098 Berlin, Germany
Citazione:
M.R. Toliat et al., "Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b", ELECTROPHOR, 21(3), 2000, pp. 541-544

Abstract

A total of 196 unrelated patients with neurofibromatosis type 1 (NF1) was screened for mutations in exons 4a-c of the NF1 gene by temperature gradient gel electrophoresis (TGGE) of polymerase chain reaction (PCR)-amplified genomic DNA fragments using intron-based primers. DNA samples with abnormal TGGE band patterns were subjected to sequence analysis. Sequence alterations were identified in ten patients (5.1%). 496delGT (1), 499delTGTT (4), T528A=D176E (2), T539A=L180X (1), 540insA (1), C574T=R192X (1). Thus, a total of six different mutations was identified in exon 4b but none in exons 4a and 4c. Only the missense mutation D176E, which we assume to be a nonpathogenic polymorphism, and the 4-base pair (bp) deletion 499delTGTT have been described before. The reason for the high incidence of mutations in exon 4b is obviously a tetranucleotide tandem repeat comprising nucleotides 495-502 (TGTTTGTT) that may give rise to slipped mispairing and subsequent deletionof one repeat unit during replication. Additionally, the recurrent 4 bp deletion was found as a second hit in a malignant schwannoma of a further NF1patient, suggesting that micro-lesions may be as frequent among somatic asamong germline mutations. This is the first report of a systematic study of NF1 exons 4a-c in a large group of NF1 patients.

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Documento generato il 02/04/20 alle ore 19:06:35