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Titolo:
Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population
Autore:
Natacci, F; Colapietro, P; Riva, P; Corrado, L; Rossi, LN; Maninetti, MM; Casciati, MC; Zambrino, CA; Lanzi, G; Larizza, L;
Indirizzi:
Univ Milan, Fac Med, Dept Biol & Genet, I-20133 Milan, Italy Univ Milan Milan Italy I-20133 , Dept Biol & Genet, I-20133 Milan, Italy Univ Milan, Dept Pediat 1, Milan, Italy Univ Milan Milan ItalyUniv Milan, Dept Pediat 1, Milan, Italy C Mondino Fdn, Neurol Inst, Child Neuropsychiat Div, Pavia, Italy C Mondino Fdn Pavia Italy l Inst, Child Neuropsychiat Div, Pavia, Italy
Titolo Testata:
MOLECULAR AND CELLULAR PROBES
fascicolo: 6, volume: 13, anno: 1999,
pagine: 415 - 420
SICI:
0890-8508(199912)13:6<415:DAHFON>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEUROFIBROMATOSIS TYPE-1 NF1; MUTATION-RATE; GENE; REPEAT; DELETIONS; LOCUS;
Keywords:
neurofibromatosis type 1; intragenic DNA polymorphisms; mutation rate; allele frequencies;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Larizza, L Univ Milan, Fac Med, Dept Biol & Genet, Via Viotti 3-5, I-20133Milan, Italy Univ Milan Via Viotti 3-5 Milan Italy I-20133 133 Milan, Italy
Citazione:
F. Natacci et al., "Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population", MOL CELL PR, 13(6), 1999, pp. 415-420

Abstract

Segregation analysis of Neurofibromatosis type 1 (NF1) intragenic polymorphisms is a useful diagnostic tool for linkage analysis in familiar cases and for the exclusion/detection of deletion in sporadic patients. We performed a segregation analysis of intragenic NF1 polymorphic markers in an Italian NF1 population consisting of 17 familiar and 41 sporadic cases, for a total of 79 affected and 105 unaffected individuals. The haplotype in linkage with the mutation could be identified in all of the familial cases. Furthermore, an intragenic deletion was found in one sporadic case and confirmed by means of FISH using an NF1 IVS27 specific probe generated by a novel PCR procedure. In order to determine the allele frequencies at four NF1 polymorphisms in the Italian population, the unaffected family members and 25 unrelated Italian individuals were genotyped. Allele frequencies were found to be statistically different from those in the literature for markers IVS27AC28.4 and IVS38CT53.0. In addition four novel alleles were found in four unrelated subjects, and we observed a mutation during paternal gametogenesis in one case. These data suggest that NF1 polymorphic intragenic loci are unstable. It is unclear whether or not their marked instability may enhance the high mutation rate of the NF1 gene. (C) 1999 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 22:41:58