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Updated: Jun 3, 2025

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

[对导致遗传性凝血因子V缺乏的新型误解突变的基因分析]

L Y Qin¹, Y Chen², L L Hou¹

¹Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi

|January 7, 2025

概括

这项研究确定了F5基因中的新型同卵性误解突变,c.5128T > C (p.Trp1682Arg),是导致家族遗传性凝血因子V缺乏的原因. 这一发现扩大了V因子缺乏的已知遗传原因.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
血液学血液学血液学

背景情况:

遗传性凝血因子V (FV) 缺乏症是一种罕见的出血障碍.
血缘关系的婚姻可以增加自体相逆性遗传疾病的发病率.

研究的目的:

为了调查血缘关系家庭遗传性凝血因子V缺乏症的遗传基础.
为了识别和表征F5基因中一个新的突变,负责该缺陷.

主要方法:

凝血指数 (PT,APTT) 和FV水平 (FV:C,FV:Ag) 在七个成员的谱系中进行了评估.
桑格测序和反向测序被用来分析F5基因的所有前子.
使用in silico工具和ACMG指南来评估突变的致病性.

主要成果:

试验对象出现了严重的I型FV缺陷 (FV:C 2%,FV:Ag 4%).
在试验样本中的F5基因的第15个表中,发现了一种新的同卵性误解突变,c.5128T > C (p.Trp1682Arg).
根据ACMG指南,该突变被多个in silico工具预测为致病性,并被归类为可能的致病性突变 (PM2 + PM3 + PP1 + PP3 + PP4).

结论:

在F5基因中的误解突变c.5128T > C (p.Trp1682Arg) 是该家族遗传性FV缺陷的可能原因.
这种新型突变扩大了已知的凝血因子V缺乏的基因型-表型谱.
这一发现强调了基因分析在诊断罕见的出血障碍方面的重要性,特别是在血缘关系人口中.

关键词:

凝血因子V缺乏症凝血因子V缺乏症血缘关系结婚的婚姻.遗传性疾病是一种遗传性疾病.同性双胞胎突变是同性双胞胎的突变

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