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研究rs5918人类血小板抗原1和rs1800790纤维蛋白原β链作为复发性流产关键因素的关联性。

Investigating Association of rs5918 Human Platelets Antigen 1 and rs1800790 Fibrinogen β Chain as Critical Players with Recurrent Pregnancy Loss.

作者信息

Karami Fatemeh, Askari Maliheh, Modarressi Mohammad Hossein

机构信息

Department of Medical Genetics, Applied Biophotonics Research Center, Science and Research Branch, Islamic Azad University, Tehran 1477893855, Iran.

Department of Biology, School of Basic Sciences, Science and Research Branch, Islamic Azad University, Tehran 1477893855, Iran.

出版信息

Med Sci (Basel). 2018 Oct 31;6(4):98. doi: 10.3390/medsci6040098.

Abstract

Thrombophilia gene variants have been shown to be associated with higher risk of recurrent pregnancy loss (RPL). Due to the role of human platelets antigen 1 () and fibrinogen β chain (FGB) as critical players in the coagulation process, their most important variants including rs5918 T > C and rs1800790 G > A were selected to be studied in women affected by RPL. Three milliliters of peripheral blood were drawn from 110 women with history of at least two consecutive spontaneous abortion and 110 healthy women controls. rs5918 T > C and rs1800790 G > A of and genes, respectively, were selected to be analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) following DNA isolation using QIAamp DNA Blood Mini Kit. Heterozygote genotype (TC) of gene rs5918 polymorphism was significantly associated with risk of RPL (-value = 0.02). Although, rs1800790 G > A of gene was not associated with RPL, its combination with rs5918 polymorphism was associated with increased risk of RPL. Owing to the critical roles of and genes in coagulation, and thrombosis and several confinements on the meaningful association between the combination of those polymorphism with risk of RPL, including them in the thrombophilia panel may increase detection rate of hereditary thrombophilia patients. However, further studies with larger sample sizes are required to shed light on the exact role of the studied gene polymorphism, especially rs1800790 G > A of gene variant in pathogenesis of RPL.

摘要

血栓形成倾向基因变异已被证明与复发性流产(RPL)的较高风险相关。由于人类血小板抗原1()和纤维蛋白原β链(FGB)在凝血过程中起关键作用,因此选择了它们最重要的变异体,包括rs5918 T > C和rs1800790 G > A,对受RPL影响的女性进行研究。从110名有至少两次连续自然流产史的女性和110名健康女性对照中抽取3毫升外周血。分别使用QIAamp DNA Blood Mini Kit分离DNA后,通过聚合酶链反应-限制性片段长度多态性(PCR_RFLP)分析和基因的rs5918 T > C和rs1800790 G > A。基因rs5918多态性的杂合子基因型(TC)与RPL风险显著相关(-值 = 0.02)。虽然基因的rs1800790 G > A与RPL无关,但其与rs5918多态性的组合与RPL风险增加有关。由于和基因在凝血和血栓形成中的关键作用,以及这些多态性组合与RPL风险之间有意义关联的一些限制,将它们纳入血栓形成倾向检测组可能会提高遗传性血栓形成倾向患者的检出率。然而,需要进一步进行更大样本量的研究,以阐明所研究基因多态性的确切作用,特别是基因变异体rs1800790 G > A在RPL发病机制中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae25/6313438/7cd78e589a02/medsci-06-00098-g001.jpg

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