Ruiz-Argüelles G J, Garcés-Eisele J, Reyes-Núñez V, Ramírez-Cisneros F J
Centro de Hematología y Medicina Interna de Puebla, Mexico.
Am J Hematol. 2001 Jan;66(1):28-31. doi: 10.1002/1096-8652(200101)66:1<28::AID-AJH1003>3.0.CO;2-3.
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.
我们已经表明，在具有原发性血栓形成倾向临床特征的墨西哥混血患者中，39%具有活化蛋白C抵抗表型，5%蛋白C缺乏，2%蛋白S缺乏。在本研究中，我们对37名具有血栓形成倾向的墨西哥人和50名正常对照者进行了评估，检测了凝血因子V G1691A（莱顿突变）、凝血酶原G20210A以及亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性。发现4例患者为凝血因子V莱顿突变杂合子，5例为凝血酶原20210突变杂合子，16例为MTHFR 677突变杂合子，6例为MTHFR 677突变纯合子。有4例个体存在等位基因共分离现象：2例为凝血因子V莱顿/凝血酶原20210双杂合子，1例为凝血酶原20210/MTHFR 677杂合子，1例为凝血酶原20210杂合子/MTHFR 677纯合子。对于凝血因子V莱顿、凝血酶原20210和MTHFR 677突变，其等位基因频率分别为1%（±0.2%，α=0.05）、<1%和51%（±5%，α=0.05），计算得出的血栓形成相对风险分别为5.94（P=0.08）、>7.66（P<0.05）和0.44（P无显著性差异）。在墨西哥混血血栓形成倾向患者中，凝血因子V莱顿突变的低患病率（10.8%）和凝血酶原20210突变的高患病率（13.5%）与白种人血栓形成倾向患者中所发现的情况形成对比（分别为21%和6%；P<0.01）。另一方面，MTHFR 677突变基因在正常对照者（78%）和血栓形成倾向患者（61%）中的高患病率并不支持该突变在墨西哥混血患者血栓形成过程中起作用。
