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Titolo:
Spectrum of beta thalassemia mutations and their linkage to beta-globin gene haplotypes in the indo-Mauritians
Autore:
Kotea, N; Ramasawmy, R; Lu, CY; Fa, NS; Gerard, N; Beesoon, S; Ducrocq, R; Surrun, SK; Nagel, RL; Krishnamoorthy, R;
Indirizzi:
Hop Robert Debre, INSERM U458, F-75019 Paris, France Hop Robert Debre Paris France F-75019 INSERM U458, F-75019 Paris, France Univ Mauritius, SSR Ctr Med Studies & Res, Reduit, Mauritius Univ Mauritius Reduit Mauritius tr Med Studies & Res, Reduit, Mauritius Albert Einstein Coll Med, Div Hematol, Bronx, NY 10467 USA Albert EinsteinColl Med Bronx NY USA 10467 Hematol, Bronx, NY 10467 USA
Titolo Testata:
AMERICAN JOURNAL OF HEMATOLOGY
fascicolo: 1, volume: 63, anno: 2000,
pagine: 11 - 15
SICI:
0361-8609(200001)63:1<11:SOBTMA>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
INDIAN SUBCONTINENT; PRENATAL-DIAGNOSIS; POLYMORPHISMS; NORTHERN; THAILAND; CLUSTER;
Keywords:
beta thalassemia; haplotype; framework;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Krishnamoorthy, R Hop Robert Debre, INSERM U458, 48 Blvd Serurier, F-75019Paris, France Hop Robert Debre 48 Blvd Serurier Paris France F-75019
Citazione:
N. Kotea et al., "Spectrum of beta thalassemia mutations and their linkage to beta-globin gene haplotypes in the indo-Mauritians", AM J HEMAT, 63(1), 2000, pp. 11-15

Abstract

The beta thalassemia alleles in 53 thalassemic Indo-Mauritian patients andtheir families consisting of 23 homozygous beta-thalassemia, 9 HbS/beta-thalassemia, 18 HbS/beta-thalassemia, 1 HbD/beta-thalassemia, I delta beta/beta-thalassemia and 1 HbH/beta-thalassemia from the island of Mauritius werestudied. Characterization:by polymerase chain reaction-based reverse dot blot hybridization technique revealed that the IVS1-5 (G-->C) mutation accounted for 74% of the beta thalassemic alleles, while six other mutations occurred at much lower frequencies: HbE codon 26 (G-->A); 10.4%, codon 8/9 (+G); 3.5%, codon 30 (AGG-->ACG) also called IVSI (-1).G-->C; 3.5%,:codon 15 (G-->A); 3.5%, codon 41/42 (-CTTT); 2.4% and -28 (A-IG); 2.4%, Association:of these mutations to specific beta globin gene sequence framework and haplotype allowed to trace their ancestral link. These data are useful in futuremolecular screening of the,population in view of implementing a thalassemia prevention and control program in Mauritius. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/09/20 alle ore 23:27:51