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Updated: Jul 15, 2025

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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俄罗斯患有凝血因子FVII缺乏症患者的分子遗传分析

Olesya Pshenichnikova1, Daria Selivanova1, Ekaterina Shchemeleva1

  • 1Laboratory of Genetic Engineering of National Medical Research Center for Hematology, Novy Zykovski lane 4a, 125167 Moscow, Russia.

Genes
|September 28, 2023
PubMed
概括

这项研究详细介绍了俄罗斯的FVII缺陷基因突变,确定了24种F7基因变异,并将特定突变与FVII水平联系起来,而不是疾病严重程度. 一种常见的突变,c.1391delC,在俄罗斯人口中普遍存在.

关键词:
基因F7 基因F7 基因在FVII中存在缺陷.分子遗传分析分子遗传分析这是一种罕见的出血障碍.

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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