巴西南部一家地区医院献血者中血栓形成倾向相关遗传风险因素的患病率。

Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil.

作者信息

Dick-Guareschi Jéssica, Fontana Juliana Cristine, Sanseverino Maria Teresa Vieira, Kubaski Francyne, Sekine Leo, Mesquita Nanci Félix, Onsten Tor Gunnar Hugo, Leistner-Segal Sandra

机构信息

Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.

Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

出版信息

Hematol Transfus Cell Ther. 2022 Jul-Sep;44(3):379-385. doi: 10.1016/j.htct.2021.01.010. Epub 2021 Mar 16.

DOI:10.1016/j.htct.2021.01.010

PMID:33775585

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9477773/

Abstract

INTRODUCTION

Thromboembolic events occur due to an imbalance in the hemostasis and some factors associated with this condition can be inherited. In order to evaluate the frequency of genotypes considered to be common hereditary risk factors for thrombophilia associated with venous thrombosis (g.1691G > A and g.20210G > A) and hyperhomocysteinemia (g.677C > T and g.1298A > C), samples from voluntary healthy blood donors at the Hospital de Clínicas de Porto Alegre were tested.

METHODS

We examined 325 blood samples from blood donors collected from October 2017 to July 2018. Blood was collected on filter paper and the DNA was extracted for single nucleotide polymorphisms (SNPs) analysis using the qualitative real time polymerase chain reaction.

RESULTS

The calculated frequencies of each genetic variant in heterozygosity were 4% for the FV gene (g.1691G > A), 4% for the F2 gene (g.20210G > A) and 42% and 39% for methylenetetrahydrofolate reductase (MTHFR), g.677C > T and g.1298A > C, respectively. Only the genetic variants of MTHFR were found in homozygosity, with frequencies of 14% and 6% (g.677C > T and g.1298A > C), respectively.

DISCUSSION

Altogether, these results describe the frequencies of genetic variants associated with venous thrombosis and hyperhomocysteinemia in the analyzed group and are important to enhance our current knowledge about the genetic profiles of Brazilian blood donors.

摘要

引言

血栓栓塞事件是由于止血功能失衡所致，与该病症相关的一些因素可能是遗传性的。为了评估被认为是与静脉血栓形成相关的血栓形成倾向（g.1691G＞A和g.20210G＞A）以及高同型半胱氨酸血症（g.677C＞T和g.1298A＞C）常见遗传风险因素的基因型频率，我们对阿雷格里港临床医院的自愿健康献血者样本进行了检测。

方法

我们检测了2017年10月至2018年7月收集的325份献血者血液样本。血液收集在滤纸上，提取DNA后使用定性实时聚合酶链反应进行单核苷酸多态性（SNP）分析。

结果

杂合子中各基因变异的计算频率分别为：FV基因（g.1691G＞A）为4%，F2基因（g.20210G＞A）为4%，亚甲基四氢叶酸还原酶（MTHFR）的g.677C＞T和g.1298A＞C分别为42%和39%。仅在纯合子中发现了MTHFR的基因变异，频率分别为14%和6%（g.677C＞T和g.1298A＞C）。