表面健康的约旦人中因子V G1691A（莱顿）和凝血酶原G20210A基因多态性的患病率。

Prevalence of factor V G1691A (Leiden) and prothrombin G20210A polymorphisms among apparently healthy Jordanians.

作者信息

Nusier Mohamad K, Radaideh Abdelrahman M, Ababneh Nida'a A, Qaqish Bara'ah M, Alzoubi Renad, Khader Yousef, Mersa Janet Y, Irshaid Nidal M, El-Khateeb Mohammed

机构信息

Department of Biochemistry and Molecular Biology, Jordan University of Science and Technology, School of Medicine, Irbid 22110, Jordan.

出版信息

Neuro Endocrinol Lett. 2007 Oct;28(5):699-703.

PMID:17984931

Abstract

Factor V Leiden and prothrombin G20210A are related genetic risk factors for venous thromboembolism (VTE). Analysis for both mutations is increasingly being performed on patients exhibiting hypercoagulability. The objective of this study was to determine the prevalence of factor V Leiden (FVL), prothrombin-G20210A (PT-G20210A) polymorphisms and their coexistence among apparently healthy Jordanians. One thousand apparently healthy individuals from representative regions of Jordan with no previous history of VTE participated in this study. The mean age of participants was 28.5+/-6.4 years (age range 18-45 years). Two hundred and eighteen subjects were APC resistant with an APC-R mean of 85.52+/-15.35 seconds; the non-resistant subjects had an APC-R mean of 159.90+/-26.96 seconds. A multiplex polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for the simultaneous detection of FVL and prothrombin G20210A was used to analyze the 218 DNA samples that were APC-R resistant. Both mutations generate HindIII RFLPs and the prothrombin amplicon contains an invariant HindIII recognition sites. The multiplex PCR-RFLP of Factor V for those 218-samples was: 41 wild-type, 169 heterozygous mutant, and eight homozygous mutant individuals. For prothrombin G20210A, the multiplex PCR-RFLP identified 215 wild-type and three heterozygous mutant individuals. Factor V positive individuals (n=50) had a mean F-V activity of 78.04%+/-25.81. F-V activity among wild type (n=41), F-V Leiden heterozygous (n=169) and F-V Leiden homozygous (n=8) were 92.93%+/-16.17, 87.02%+/-15.21 and 96.14%+/-12.32, respectively. Factor II positive subjects (n=47) had a mean factor II activity of 127.96%+/-21.37. F-II activity among carriers (heterozygous, n=3) and non-carriers (normal, n=215) of PT-G20210A mutation were 107.67%+/-9.29 and 105.00%+/-17.79, respectively. The prevalence of FVL was 21.8% and there is a little likelihood of the co-inheritance of the FVL and PT-G20210A among healthy young adults, since only few cases were found to be carriers for the two alleles.

摘要

凝血因子V莱顿突变和凝血酶原G20210A突变是静脉血栓栓塞症（VTE）相关的遗传风险因素。对于表现出高凝状态的患者，越来越多地会对这两种突变进行分析。本研究的目的是确定凝血因子V莱顿（FVL）、凝血酶原-G20210A（PT-G20210A）多态性在表面健康的约旦人中的患病率及其共存情况。1000名来自约旦代表性地区、既往无VTE病史的表面健康个体参与了本研究。参与者的平均年龄为28.5±6.4岁（年龄范围18 - 45岁）。218名受试者对活化蛋白C（APC）抵抗，APC-R平均值为85.52±15.35秒；非抵抗受试者的APC-R平均值为159.90±26.96秒。采用多重聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法同时检测FVL和凝血酶原G20210A，对218份对APC抵抗的DNA样本进行分析。两种突变均产生HindIII限制性片段长度多态性，且凝血酶原扩增子包含一个不变的HindIII识别位点。对这218个样本进行凝血因子V的多重PCR-RFLP分析结果为：41例野生型、169例杂合突变型和8例纯合突变型个体。对于凝血酶原G20210A，多重PCR-RFLP鉴定出215例野生型和3例杂合突变型个体。凝血因子V阳性个体（n = 50）的F-V平均活性为78.04%±25.81。野生型（n = 41）、F-V莱顿杂合型（n = 169）和F-V莱顿纯合型（n = 8）的F-V活性分别为92.93%±16.17、87.02%±15.21和96.14%±12.32。凝血因子II阳性受试者（n = 47）的凝血因子II平均活性为127.96%±21.37。PT-G20210A突变携带者（杂合子，n = 3）和非携带者（正常，n = 215）的F-II活性分别为107.67%±9.29和105.00%±17.79。FVL的患病率为21.8%，在健康年轻成年人中，FVL和PT-G20210A共同遗传的可能性较小，因为仅发现少数病例为两个等位基因的携带者。