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Titolo:
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait
Autore:
Houdayer, C; Soupre, V; Rosenberg-Bourgin, M; Martinez, H; Tredano, M; Feldmann, D; Feingold, J; Aymard, P; Munnich, A; Le Bouc, Y; Vazquez, MP; Bahuau, M;
Indirizzi:
Hop Enfants Armand Trousseau, Serv Biochim & Biol Mol, F-75571 Paris 12, France Hop Enfants Armand Trousseau Paris France 12 l, F-75571 Paris 12, France Hop Enfants Armand Trousseau, Serv Chirurg MaxilloFaciale & Plast, F-75571Paris, France Hop Enfants Armand Trousseau Paris France F-75571 , F-75571Paris, France Univ Paris 07, INSERM, U155, Paris, France Univ Paris 07 Paris FranceUniv Paris 07, INSERM, U155, Paris, France Hop Necker Enfants Malad, Serv Genet Med, F-75743 Paris 15, France Hop Necker Enfants Malad Paris France 15 t Med, F-75743 Paris 15, France Hop Enfants Armand Trousseau, Unite Biol Mol, Paris, France Hop Enfants Armand Trousseau Paris France Unite Biol Mol, Paris, France
Titolo Testata:
ANNALES DE GENETIQUE
fascicolo: 2, volume: 42, anno: 1999,
pagine: 69 - 74
SICI:
0003-3995(1999)42:2<69:LAO5NV>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
HOMEOBOX GENE HLX1; VANDERWOUDE SYNDROME; CLEFT-LIP; LOCALIZATION; EXPRESSION; EXCLUSION; FAMILIES; PALATE; REGION; TGFB2;
Keywords:
van der Woude syndrome (vWS); linkage analysis; locus homogeneity; cleft lip; cleft palate;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Houdayer, C Hop Enfants Armand Trousseau, Serv Biochim & Biol Mol, 26 Ave Dr Arnold Netter, F-75571 Paris 12, France Hop Enfants Armand Trousseau 26 Ave Dr Arnold Netter Paris France 12
Citazione:
C. Houdayer et al., "Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait", ANN GENET, 42(2), 1999, pp. 69-74

Abstract

van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate. The vWS gene has been assigned to a locus in 1q32-q41 by linkage analysis and physical mapping. We have investigated 5 novel vWS families through probands attended for cleft lip and/or palate repair at the Department of Maxillofacial Surgery of Hopital Trousseau, Paris, in order to tentatively refine the genetic map of the vWS region in 1q32-q41 and possibly identify unlinked pedigrees. Linkage analysis was carried out to 6 microsatellite markers (D1S249, D1S245, D1S491, D1S205, D1S414, D1S425), yielding a maximum cumulative LOD score of Z = 3.27 at theta = 0.00 for D1S245. The innermost four markers were found to be tightly linked toone another, with no evidence for recombination. Our results support linkage of vWS within a region of tightly linked markers and do not favour locusheterogeneity of the disease trait.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/04/20 alle ore 08:08:48