Prevalence of prothrombin G20210A, factor V G1691A (Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T in seven different populations determined by multiplex allele-specific PCR

作     者：Hessner, MJ Luhm, RA Pearson, SL Endean, DJ Friedman, KD Montgomery, RR 

作者机构：Blood Ctr SE Wisconsin Inc Diagnost Lab Milwaukee WI 53233 USA 

出 版 物：《THROMBOSIS AND HAEMOSTASIS》 (Thromb. Haemost.)

年 卷 期：1999年第81卷第5期

页      面：733-738页

核心收录：

学科分类：1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 10[医学] 

主　　题：等位基因 大陆人口群 因子Ⅴ/遗传学 亚甲基四氢叶酸还原酶(NADPH) 突变 作用于CH-NH族供体的氧化还原酶类/遗传学 聚合酶链反应/方法 凝血酶原/遗传学 危险因素 血栓形成/遗传学 人类 

摘      要：Individuals belonging to six racial groups (African American, Asian Indian, Caucasian, Hispanic, Korean, Native American), and a seventh group comprised of referred patients with thrombosis were genotyped for the prothrombin G20210A mutation, the factor V G1691A (Leiden) mutation, and the methylenetetrahydrofolate reductase (MTHER) C677T mutation by multiplexed allele-specific PCR. The prothrombin 20210A and factor V 1691A allele frequencies in the thrombosis patients, 3.2% and 9.5%, were significantly higher than those in the random Caucasians, 1.3% and 1.8%, (p = 0.043 and p 0.001, respectively). The relative risk of venous thrombosis was determined to be 2.4-fold for carriers of the prothrombin 20210A allele (odds ratio = 2.54;95% confidence interval = 0.94, 6.82) and 4.5-fold for carriers of the factor V 1691A allele (odds ratio = 5.06;95% confidence interval = 2.25, 11.36). Among the seven populations, significant differences were observed in the MTHFR 677T allele distribution, however this mutation was not determined to be a risk factor for venous thrombosis in the patient group studied, either alone or in combination with the prothrombin 20210A and/or the factor V 1691A allele(s).