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Titolo:
Primary thrombophilia in Mexico. II. Factor V G1691A (Leiden), prothrombinG20210A, and methylenetetrahydrofolate reductase C677T polymorphism in thrombophilic Mexican mestizos
Autore:
Ruiz-Arguelles, GJ; Garces-Eisele, J; Reyes-Nunez, V; Ramirez-Cisneros, FJ;
Indirizzi:
Lab Clin Puebla, Puebla 72530, Mexico Lab Clin Puebla Puebla Mexico 72530 ab Clin Puebla, Puebla 72530, Mexico Ctr Hematol & Med Interna Publa, Puebla, Mexico Ctr Hematol & Med Interna Publa Puebla Mexico rna Publa, Puebla, Mexico Univ Popular Autonoma Estado Puebla, Puebla, Mexico Univ Popular Autonoma Estado Puebla Puebla Mexico uebla, Puebla, Mexico
Titolo Testata:
AMERICAN JOURNAL OF HEMATOLOGY
fascicolo: 1, volume: 66, anno: 2001,
pagine: 28 - 31
SICI:
0361-8609(200101)66:1<28:PTIMIF>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACTIVATED PROTEIN-C; 3'-UNTRANSLATED REGION; VENOUS THROMBOSIS; RISK FACTOR; PLASMA HOMOCYSTEINE; ETHNIC-GROUPS; GENE; MUTATION; RESISTANCE; PREVALENCE;
Keywords:
thrombophilia; prothrombin; factor V; methylenetetrahydrofolate reductase; Mexico;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Ruiz-Arguelles, GJ Lab Clin Puebla, Diaz Ordaz 808, Puebla 72530, Mexico Lab Clin Puebla Diaz Ordaz 808 Puebla Mexico 72530 ico
Citazione:
G.J. Ruiz-Arguelles et al., "Primary thrombophilia in Mexico. II. Factor V G1691A (Leiden), prothrombinG20210A, and methylenetetrahydrofolate reductase C677T polymorphism in thrombophilic Mexican mestizos", AM J HEMAT, 66(1), 2001, pp. 28-31

Abstract

We have shown that in Mexican mestizo patients with clinical features of primary thrombophilia, 39% have activated protein C resistance phenotype, 5%protein C deficiency, and 2% protein S deficiency. In the present study, in a group of 37 thrombophilic Mexicans and 50 normal controls, we assessed the factor V G1691A (Leiden), the prothrombin G20210A, and the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphisms. Four patients were found to be heterozygous for factor V Leiden, 5 heterozygous for the prothrombin 20210, 16 heterozygous, and 6 homozygous for the MTHFR 677. There were four individuals with co-segregation of alleles: two heterozygotes for the factor V Leiden/prothrombin 20210, one heterozygote for prothrombin 20210/MTHFR 677, and one heterozygote for prothrombin 20210/homozygote for MTHFR 677. For factor V Leiden, prothrombin 20210, and MTHFR 677 mutations, the allele frequencies were respectively 1% (+/-0.2%, alpha = 0.05), <1% and 51% (+/-5%, <alpha> = 0.05), with calculated relative risks for thrombosis of 5.94 (P = 0.08), >7.66 (P < 0.05), and 0.44 (P NS), respectively. In Mexican mestizo thrombophilic patients, the low prevalence of the factor V Leiden mutation (10.8%) and the high prevalence of the prothrombin 20210 mutation (13.5%) contrast with those identified in Caucasian thrombophilic patients (21% and 6%, respectively; P < 0.01). On the other hand, the high prevalence of the MTHFR 677 mutation gene both in normal controls (78%) and thrombophilic patients (61%) does not support a role of this mutation in the thrombogenesis of Mexican mestizo patients. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/07/20 alle ore 14:33:54