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Primary thrombophilia in Mexico. II. Factor V G1691A (Leiden), prothrombin G20210A, and methylenetetrahydrofolate reductase C677T polymorphism in thrombophilic Mexican mestizos
Author(s) -
RuizArgüelles Guillermo J.,
GarcésEisele Javier,
ReyesNúñez Virginia,
RamírezCisneros Francisco J.
Publication year - 2001
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/1096-8652(200101)66:1<28::aid-ajh1003>3.0.co;2-3
Subject(s) - methylenetetrahydrofolate reductase , factor v leiden , medicine , thrombophilia , prothrombin g20210a , gastroenterology , factor v , loss of heterozygosity , compound heterozygosity , protein c deficiency , heterozygote advantage , gene mutation , thrombosis , allele , venous thrombosis , mutation , genetics , biology , gene
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%, α = 0.05), <1% and 51% (±5%, α = 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. Am. J. Hematol. 66:28–31, 2001. © 2001 Wiley‐Liss, Inc.