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Titolo:
Bernard-Soulier syndrome: Common ancestry in two African American familieswith the GP Ib alpha Leu129Pro mutation
Autore:
Antonucci, JV; Martin, ES; Hulick, PJ; Joseph, A; Martin, SE;
Indirizzi:
Christiano Care Hlth Syst, Dept Med, Wilmington, DE USA Christiano Care Hlth Syst Wilmington DE USA Dept Med, Wilmington, DE USA Christiano Care Hlth Syst, Dept Pathol, Wilmington, DE USA Christiano CareHlth Syst Wilmington DE USA t Pathol, Wilmington, DE USA
Titolo Testata:
AMERICAN JOURNAL OF HEMATOLOGY
fascicolo: 2, volume: 65, anno: 2000,
pagine: 141 - 148
SICI:
0361-8609(200010)65:2<141:BSCAIT>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
PLATELET GLYCOPROTEIN-IB; VON-WILLEBRAND-FACTOR; LEUCINE-RICH REPEAT; IX-V COMPLEX; CELL-SURFACE; MEMBRANE; EXPRESSION; GENE; BINDING; LOCALIZATION;
Keywords:
Bernard-Soulier syndrome; GP Ib alpha mutation; African American families;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Martin, SE S 200,4512 Kirkwood Highway, Wilmington, DE 19808 USA S 200,4512 Kirkwood Highway Wilmington DE USA 19808 19808 USA
Citazione:
J.V. Antonucci et al., "Bernard-Soulier syndrome: Common ancestry in two African American familieswith the GP Ib alpha Leu129Pro mutation", AM J HEMAT, 65(2), 2000, pp. 141-148

Abstract

Bernard-Soulier syndrome (BSs) is a rare bleeding disorder characterized by circulating giant platelets, thrombocytopenia, and a prolonged bleeding time. BSs usually has an autosomal recessive inheritance pattern, with a preponderance of Caucasian and Japanese ancestry when the ethnic background has been reported. Underlying this disorder of platelet function is a defect in the platelet glycoprotein (GP) Ib-IX-V complex, composed of four polypeptides, GP Ib alpha, GP Ib beta, GP IX, and GP V. Molecular characterizationof individuals with BSs has identified mutations in the GP Ib alpha, GP Ibbeta, and GP IX genes responsible for the expressed phenotype, In this study, we report a family of African-American descent, with autosomal recessive BSs showing a point mutation in codon 129 of the GP Ib alpha gene. This mutation, CTC:wild-type to CCC:mutant, is similar to that of another AfricanAmerican family where the resulting leucine to proline substitution in the5(th) leucine-rich repeat of GP Ib alpha is responsible for the observed BSs phenotype, Comparison of the intragenic polymorphisms of GP Ib alpha, aswell as microsatellite markers in a 17.5 cM region of chromosome 17p12 that contains the GP Ib alpha gene, suggests that, although socially unrelated, the Leu129Pro mutation in these two families has a common founder. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 06:19:28