F2c.*C20209T突变在有血栓病史的患者中的应用:病例报告、回顾性两地结果和文献综述。

IF 2.2 4区 医学 Q3 HEMATOLOGY
Didier Jambou, Noemie Saut, Viviane Queyrel, Anny Appert-Flory, Florence Fischer, Pierre Suchon, Neila De Pooter, Pierre Toulon
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引用次数: 0

摘要

简介在白人中发现的凝血酶原基因变异 G20210A(c.*97G>A)与静脉血栓栓塞症(VTE)风险增加有关。其他罕见的 F2 基因多态性(C20209T)也有报道,但更罕见且更多地涉及黑人,但其与 VTE 的潜在关联仍不确定:我们对尼斯和马赛大学医院在 11 年内(2007-2018 年)进行的 25000 次血栓性疾病检测进行了回顾性分析,并广泛查阅了相关文献:基因测定包括类似的 PCR 方案和测序。在 25 585 例基因测定中,发现了 21 例杂合病例(0.08%)。在我们的白种人患者中发现的 C20209T 突变非常罕见,其频率与以往文献报道的频率不同,主要出现在非白种人患者(非洲人、非裔美国人和加勒比人)中。文献中已描述了 113 例这种突变的患者,其中只有 1 例为同基因突变:这项研究是目前对 C20209T 基因突变进行的最重要的研究,有助于精确了解该基因突变的频率及其在静脉血栓栓塞症中的潜在作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

F2c.*C20209T mutation in patients with a history of thrombosis: A case report, retrospective 2 site-results and review of the literature

F2c.*C20209T mutation in patients with a history of thrombosis: A case report, retrospective 2 site-results and review of the literature

Introduction

G20210A (c.*97G>A) prothrombin gene variant, found in white population has been associated with an increased risk of venous thromboembolism (VTE). Other rare polymorphisms in F2 gene (C20209T) have been reported, more rare and touching black people, but its potential association with VTE remain uncertain.

Methods

About a 69 years-old Caucasian woman presenting an unprovoked deep venous thrombosis of the leg, we analyzed retrospectively 25.000 thrombophilia tests on a 11-year period of time (2007–2018), at Nice and Marseille University Hospitals, and performed extensive review of the literature.

Results

Genetic determination included a similar PCR protocol and sequencing. Twenty-one heterozygous cases out of 25.585 determinations (0.08%) was found. The C20209T mutation detected in our Caucasian patient is rare, with a frequency that differed from what was reported in the previous literature, mainly in non-Caucasian patients (Africans, Africans-Americans, and Caribbeans). One hundred and thirteen patients with this mutation have been described in the literature, of which only one homozygous.

Conclusion

This study is the most important on C20209T mutation performed at present, allowing to precise its frequency and its potential role in venous thromboembolism.

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来源期刊
CiteScore
4.50
自引率
6.70%
发文量
211
审稿时长
6-12 weeks
期刊介绍: The International Journal of Laboratory Hematology provides a forum for the communication of new developments, research topics and the practice of laboratory haematology. The journal publishes invited reviews, full length original articles, and correspondence. The International Journal of Laboratory Hematology is the official journal of the International Society for Laboratory Hematology, which addresses the following sub-disciplines: cellular analysis, flow cytometry, haemostasis and thrombosis, molecular diagnostics, haematology informatics, haemoglobinopathies, point of care testing, standards and guidelines. The journal was launched in 2006 as the successor to Clinical and Laboratory Hematology, which was first published in 1979. An active and positive editorial policy ensures that work of a high scientific standard is reported, in order to bridge the gap between practical and academic aspects of laboratory haematology.
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