Tukek Tufan, Pehlivan Sacide, Oyaci Yasemin, Isoglu-Alkac Ummuhan
Department of Internal Medicine, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Department of Medical Biology, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Glob Med Genet. 2022 Jun 13;9(2):185-188. doi: 10.1055/s-0042-1743258. eCollection 2022 Jun.
Mannose-binding lectin 2 (MBL2) is a serine protease which is believed to be an important factor in the inherited immune system. In this article, we present a coronavirus disease 2019 (COVID-19) family of five patients: a 56-year-old father, a 51-year-old mother, two sons aged 23 and 21 years, and a 15-year-old daughter. According to the results of variant analysis performed, the father had homozygous mutant, the mother had homozygous normal, and the three children had heterozygous mutant genotype. When we compared the clinical parameters and genotypes, gene polymorphism plays a very important role in COVID-19 susceptibility and severe disease. The family, which makes up our study, is the proof of this situation, and it contains important implications for host factors and COVID-19.
甘露糖结合凝集素2(MBL2)是一种丝氨酸蛋白酶,被认为是遗传性免疫系统中的一个重要因素。在本文中,我们介绍了一个新冠肺炎(COVID-19)患者家庭,包括一名56岁的父亲、一名51岁的母亲、两名分别为23岁和21岁的儿子以及一名15岁的女儿。根据所进行的变异分析结果,父亲为纯合突变型,母亲为纯合正常型,三个孩子为杂合突变基因型。当我们比较临床参数和基因型时,基因多态性在COVID-19易感性和重症疾病中起着非常重要的作用。构成我们研究对象的这个家庭就是这种情况的证明,它对宿主因素和COVID-有着重要意义。