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Titolo:
Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter
Autore:
Tanamy, MG; Magal, N; Halpern, GJ; Jaber, L; Shohat, M;
Indirizzi:
Rabin Med Ctr, Dept Med Genet, IL-49100 Petah Tiqwa, Israel Rabin Med CtrPetah Tiqwa Israel IL-49100 , IL-49100 Petah Tiqwa, Israel Rabin Med Ctr, Felsenstein Med Res Ctr, Dept Mol Genet, Petah Tiqwa, Israel Rabin Med Ctr Petah Tiqwa Israel r, Dept Mol Genet, Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Unit Community Pediat, Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel Petah Tiqwa Israel tah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel Tel Aviv Univ Tel Aviv Israel IL-69978 ac Med, IL-69978 Tel Aviv, Israel
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 2, volume: 104, anno: 2001,
pagine: 152 - 156
SICI:
0148-7299(20011122)104:2<152:FMPTGF>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
IDENTIFICATION; EXPRESSION; RECEPTOR;
Keywords:
arthrogryposis multiplex congenita; markers; homozygosity;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Shohat, M Rabin Med Ctr, Dept Med Genet, Beilinson Campus, IL-49100 Petah Tiqwa, Israel Rabin Med Ctr Beilinson Campus Petah Tiqwa Israel IL-49100 rael
Citazione:
M.G. Tanamy et al., "Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter", AM J MED G, 104(2), 2001, pp. 152-156

Abstract

Arthrogryposis multiplex congenita (AMC) is a heterogeneous symptom complex characterized by non-progressive joint contractures from birth that involve more than one part of the body. In 1997, our group investigated a large Israeli Arab inbred kindred that showed autosomal recessive inheritance of AMC neuropathic type, and we mapped the gene to 5qter between markers D5S1456 and D5S498. Haplotype sharing studies revealed complete homozygosity in all affected individuals with marker D5S394, thus providing significant statistical evidence in favor of linkage. In this study, we have undertaken further fine mapping of this region of chromosome 5qter, and have examined several additional markers. All the affected individuals showed complete homozygosity for the marker D5S394, and also for three additional markers that are telomeric to marker D5S394 and situated 31766 bp, 58016 bp, and 58516 bp, respectively, from it. Analysis of the recombinant individuals has enabled us to narrow down the critical region to a distance of .442 Mb between markers D5S394 and D5S2069. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 12:33:17