Vizcaíno G, Torres E, Quintero J, Herrmann F, Grimm R, Diez-Ewald M, Arteaga-Vizcaíno M, Pérez-Requejo J L, Colina-Araujo J
Instituto de Investigaciones Clínicas, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela.
Invest Clin. 2000 Mar;41(1):29-36.
The Activated Protein C Resistance (APCR) is the common phenotype of Factor V Leiden (arg506gln), which is considered as a thrombotic risk factor. The aim of this study was to determine the prevalence of APCR and its association with Factor V Leiden in indian and black populations from Zulia State in western Venezuela. Blood samples were taken from 80 Yukpa indians from Sierra de Perijá and 91 black individuals from the southeast of Lago de Maracaibo. APCR was determined by the Dahlback's method with the modifications of Jorquera et al. and Trossaert et al. The results were expressed as n-APC-SR (positive value < or = 0.75). Factor V Leiden genotype was identified by PCR and restriction analysis standard methods at the Institute of Human Genetics (Greifswald, Germany). No significative difference was found between n-APC-SR from indians (mean +/- SEM 1.13 +/- 0.02, CI 95% = 1.07-1.19) and black people (1.07 +/- 0.02, CI 95% = 1.03-1.12). APCR prevalence from indians was 1.25% (1 out of 80) who was heterozygote case for F V Leiden and 4.4% (4 out of 91) from blacks (one case was heterozygous for F V Leiden). No thrombotic event personal or familial was demonstrate. Our data represent the first report related to the association between APCR and F V Leiden in venezuelan indian and black individuals. APCR without the Factor V Leiden expression suggest a different type of mutation in the Factor V molecule. In spite of high endogamy in the indian group, we can not discard the role of foreign genes in both populations. The determination of the prevalence of this phenotype and its molecular marker in various ethnic groups is important for the interpretation of their role as risk factors for thrombotic disease.
活化蛋白C抵抗(APCR)是因子V莱顿(arg506gln)的常见表型,被认为是一种血栓形成风险因素。本研究的目的是确定委内瑞拉西部苏利亚州印第安人和黑人人群中APCR的患病率及其与因子V莱顿的关联。从佩里哈山脉的80名尤帕印第安人和马拉开波湖东南部的91名黑人个体采集血样。APCR采用达尔巴克方法,并根据约尔克埃拉等人和特罗萨特等人的改良方法进行测定。结果以n-APC-SR(阳性值≤0.75)表示。因子V莱顿基因型通过德国格赖夫斯瓦尔德人类遗传学研究所的PCR和限制性分析标准方法进行鉴定。印第安人(平均±标准误1.13±0.02,95%置信区间=1.07-1.19)和黑人(1.07±0.02,95%置信区间=1.03-1.12)的n-APC-SR之间未发现显著差异。印第安人中APCR患病率为1.25%(80人中1例),该例为因子V莱顿杂合子病例;黑人中为4.4%(91人中4例)(1例为因子V莱顿杂合子)。未发现个人或家族性血栓形成事件。我们的数据代表了委内瑞拉印第安人和黑人个体中APCR与因子V莱顿关联的首份报告。无因子V莱顿表达的APCR提示因子V分子存在不同类型的突变。尽管印第安人群内通婚率高,但我们不能排除外来基因在这两个人群中的作用。确定该表型及其分子标记在不同种族群体中的患病率对于解释它们作为血栓性疾病风险因素的作用很重要。