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Titolo:
Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene
Autore:
Blumen, SC; Korczyn, AD; Lavoie, H; Medynski, S; Chapman, J; Asherov, A; Nisipeanu, P; Inzelberg, R; Carasso, RL; Bouchard, JP; Tome, FMS; Rouleau, GA; Brais, B;
Indirizzi:
Hillel Yaffe Med Ctr, Dept Neurol, IL-38100 Hadera, Israel Hillel Yaffe Med Ctr Hadera Israel IL-38100 rol, IL-38100 Hadera, Israel Technion Israel Inst Technol, Rappaport Fac Med, Haifa, Israel Technion Israel Inst Technol Haifa Israel paport Fac Med, Haifa, Israel Tel Aviv Med Ctr, Dept Neurol, Tel Aviv, Israel Tel Aviv Med Ctr Tel Aviv Israel Med Ctr, Dept Neurol, Tel Aviv, Israel Tel Aviv Univ, Sieratzki Chair Neurol, Ramat Aviv, Israel Tel Aviv Univ Ramat Aviv Israel ratzki Chair Neurol, Ramat Aviv, Israel Univ Montreal, CHUM, Ctr Rech, Montreal, PQ, Canada Univ Montreal Montreal PQ Canada l, CHUM, Ctr Rech, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Ctr Res Neurosci, Montreal, PQ, Canada McGill UnivMontreal PQ Canada r, Ctr Res Neurosci, Montreal, PQ, Canada Hop Enfants Jesus, Dept Neurol Sci, Quebec City, PQ, Canada Hop Enfants Jesus Quebec City PQ Canada rol Sci, Quebec City, PQ, Canada Grp Hosp Pitie Salpetriere, Inst Mycol, INSERM, U523, F-75634 Paris, France Grp Hosp Pitie Salpetriere Paris France F-75634 3, F-75634 Paris, France
Titolo Testata:
NEUROLOGY
fascicolo: 9, volume: 55, anno: 2000,
pagine: 1267 - 1270
SICI:
0028-3878(20001114)55:9<1267:OMABJI>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
MUSCULAR-DYSTROPHY; LINKAGE DISEQUILIBRIUM; CHROMOSOME 14Q11.2-Q13; FRENCH-CANADIANS; MAP; POPULATIONS; INCLUSIONS; REGION; MARKER;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Blumen, SC Hillel Yaffe Med Ctr, Dept Neurol, POB 169, IL-38100 Hadera, Israel Hillel Yaffe Med Ctr POB 169 Hadera Israel IL-38100 ra, Israel
Citazione:
S.C. Blumen et al., "Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene", NEUROLOGY, 55(9), 2000, pp. 1267-1270

Abstract

Objective: To determine whether all cases of oculopharyngeal muscular dystrophy (OPMD) among Bukhara Jews share the same founder mutation. Background: Autosomal dominant OPMD is caused by a (GCG)(8-13) repeat expansion in the polyadenylation binding protein 2 (PABP2) gene. The disease has a worldwide distribution but is particularly prevalent in Bukhara Jews and in FrenchCanadians, in whom it was introduced by three sisters in 1648. Methods: Weestablished the size of the PABP2 mutation in 23 Bukhara Jewish patients belonging to eight unrelated families. In all families, we constructed haplotypes for the carrying chromosomes composed of the alleles for eight chromosome 14q polymorphic markers. Results: All patients share a (GCG)(9), PABP2mutation and a four-marker haplotype. Furthermore, a shared intron single nucleotide polymorphism (SNP) in the PABP2 gene 2.6Kb from the mutation wasnot observed in 22 families with (GCG)(9) mutations from nine different countries. The smaller size of the chromosomal region in linkage disequilibrium around the mutation in Bukhara Jews, as compared with French Canadians, suggests a founder effect that occurred more than 350 years ago. Based on the Luria-Delbruck corrected "genetic clock," we estimate that the mutation appeared or was introduced once in the Bukhara Jewish population between AD872 and 1512 (mean, AD 1243). Conclusion: OPMD among Bukhara Jews is the result of a shared, historically distinct, PABP2 (GCG), mutation that likelyarose or was introduced in this population at the time they first settled in Bukhara and Samarkand during the 13th or 14th centuries.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/08/20 alle ore 10:31:31