[FV莱顿、凝血酶原G20210A和PAI-1 4G/5G血栓形成倾向突变及其组合在布拉格和中波希米亚地区1450名健康中年人群中的患病率（荧光共振能量转移实时聚合酶链反应检测结果）]

[Prevalence of thrombophilic mutations of FV Leiden, prothrombin G20210A and PAl-1 4G/5G and their combinations in a group of 1450 healthy middle-aged individuals in the Prague and Central Bohemian regions (results of FRET real-time PCR assay)].

作者信息

Kvasnicka Jan, Hájková Jaroslava, Bobcíková Petra, Kvasnicka Tomás, Dusková Daniela, Poletínová Sárka, Kieferová Veronika

机构信息

Univerzita Karlova v Praze, Ustav klinické biochemie a laboratorní diagnostiky, Trombotické centrum a Centrální hematologické laboratore.

出版信息

Cas Lek Cesk. 2012;151(2):76-82.

PMID:22515013

Abstract

BACKGROUND

Factor V Leiden (G1691A) and prothrombin gene (FII G20210A) mutations are independent risk factors of venous thrombosis and this risk is further increased by the combined genotype 4G/4G PAI-1.

AIM

The primary objective was to identify the frequency of mutations of minor alleles and genotypes of FVL, FII G20210A and PAI-1 4G/5G in healthy Caucasians in the Prague and Central Bohemia regions. The secondary objective was to identify the occurrence of their mutual combinations.

METHOD

Genotyping was performed in 1,450 healthy individuals (blood donors, 981 men and 469 women) using robotic DNA isolation and subsequent PCR and melting curve analysis (Light Cycler 480 System, Roche).

RESULTS

The minor allele frequencies in FV Leiden and FII G20210A mutations were 4.5% and 1.3% respectively. The frequency of the 4G PAI-1 allele was 55.9%. The genotype frequencies were as follows: GG 91.10%, GA 8.83% and AA 0.07% for FV Leiden; GG 97.38%, GA 2.55% and AA 0.07% for FII G20210A and 4G/4G 30.69%, 4G/5G 50.34% and 5G/5G 18.97% for PAI-1. No differences in these frequencies were found between the genders. The occurrence of the combined heterozygous FII and heterozygous FV Leiden mutations was 0.14%. The PAI-1 4G/4G genotype was combined with the heterozygous FV leiden mutation in 2.83% of cases and with the heterozygous FII mutation in 0.62% of cases.

CONCLUSIONS

The found frequencies of genotypes and alleles confirm a relatively high prevalence of hereditary thrombophilia in the Czech Republic.

摘要

背景

凝血因子V莱顿突变（G1691A）和凝血酶原基因（FII G20210A）突变是静脉血栓形成的独立危险因素，而4G/4G纤溶酶原激活物抑制剂-1（PAI-1）的联合基因型会进一步增加这种风险。

目的

主要目的是确定布拉格和中波希米亚地区健康高加索人中FVL、FII G20210A和PAI-1 4G/5G的次要等位基因和基因型的突变频率。次要目的是确定它们相互组合的发生率。

方法

使用机器人DNA提取以及随后的PCR和熔解曲线分析（罗氏Light Cycler 480系统）对1450名健康个体（献血者，981名男性和469名女性）进行基因分型。

结果

凝血因子V莱顿和FII G20210A突变的次要等位基因频率分别为4.5%和1.3%。PAI-1 4G等位基因的频率为55.9%。基因型频率如下：凝血因子V莱顿的GG为91.10%，GA为8.83%，AA为0.07%；FII G20210A的GG为97.38%，GA为2.55%，AA为0.07%；PAI-1的4G/4G为30.69%，4G/5G为50.34%，5G/5G为18.97%。在性别之间未发现这些频率的差异。FII和FVL杂合突变的联合发生率为0.14%。PAI-1 4G/4G基因型在2.83%的病例中与FVL杂合突变组合，在0.62%的病例中与FII杂合突变组合。