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Titolo:
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A
Autore:
Bernard, R; Labelle, V; Negre, P; Tardieu, S; Azulay, JP; Malzac, P; Mattei, JF; Leguern, E; Philip, N; Levy, N;
Indirizzi:
Hop Enfants La Timone, Dept Med Genet, F-13385 Marseille, France Hop Enfants La Timone Marseille France F-13385 F-13385 Marseille, France Hop La Pitie Salpetriere, INSERM U289, Paris, France Hop La Pitie Salpetriere Paris France riere, INSERM U289, Paris, France Hop La Timone, Clin Malad Neuromusculaires, Marseille, France Hop La Timone Marseille France alad Neuromusculaires, Marseille, France Fac Med La Timone, INSERM U491, Marseille, France Fac Med La Timone Marseille France mone, INSERM U491, Marseille, France
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 3, volume: 8, anno: 2000,
pagine: 229 - 235
SICI:
1018-4813(200003)8:3<229:PDOA1D>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
REPEAT SEQUENCES; DIAGNOSIS; GENE; CMT1A; HOTSPOT; REGION; PMP-22; NEUROPATHY; DELETIONS; CANDIDATE;
Keywords:
Charcot-Marie-Tooth; CMT1A; CMT1A-REPs; recombination; prenatal diagnosis; PCR; genetic counselling;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Levy, N Hop Enfants La Timone, Dept Med Genet, 264 Rue St Pierre, F-13385 Marseille, France Hop Enfants La Timone 264 Rue St Pierre Marseille FranceF-13385
Citazione:
R. Bernard et al., "Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A", EUR J HUM G, 8(3), 2000, pp. 229-235

Abstract

Charcot-Marie-Tooth disease, type 1A (CMT1A) is caused in most cases by a 1.5 Mb duplication on chromosome 17p11.2 arising after unequal crossing-over between repeated sequences called CMT1A-REPs, flanking the 1.5 Mb unit. A3.2 kb recombination hot spot has been defined, resulting in a junction fragment between EcoRI (distal CMT1A-REP) and Sad (proximal CMT1A-REP). This was further reduced to a 1.7kb EcoRI-Nsil fragment, and recently to a 731 bp hot spot region within this fragment. We describe the CMT1A-REPs-based PCR method used to identify CMT1A duplications and report on a family case inwhich a 29-year-old pregnant woman requested prenatal diagnosis for two successive pregnancies because her husband was affected with CMT1A. Our method enabled us to characterise the duplication in both foetuses and demonstrate that it arose from a rare recombination event taking place outside the 1.7 kb region. Since our approach is simple and enables the entire set of duplications occurring after recombination in the enlarged 3.2 kb region including the hot spot to be detected, we suggest it might be considered for use in primary screening for pre- and postnatal diagnosis of CMT1A.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 23:23:26