Molecular Genetic Pathology Unit, Pathology Department, King Saud University, Riyadh, Saudi Arabia.
College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Nagoya J Med Sci. 2021 Aug;83(3):407-417. doi: 10.18999/nagjms.83.3.407.
Arg506Gln mutation is responsible for one of the procoagulant factors and most common inherited thrombophilia in the Factor V Leiden (FVL) family. The replacement of the missense mutation for Arg506Gln / R506Q is at 1691st position from Guanine to Adenine with the modification of the amino acid from arginine to glutamine. The aim of this study was to investigate the current prevalence of the G1691A mutation in the FVL gene in the capital city's King Khalid University Hospitals (KKUH). Since 2017-2019 we have recruited 482 patients in these cross-sectional studies to test the G1691A mutation in KKUH's FVL gene. DNA was extracted using 2mL of the EDTA blood and genotyping was performed with polymerase chain reaction and the data was analyzed using Sanger sequencing. In this study, 4.4% of the G1691A mutation was found to be positive (combined heterozygous-GA and homozygous-AA variants) and 95.6% of them with negative, i.e., homozygous normal-GG genotypes. Our study concludes that with the advances in genetic testing and their recent availability, early mutation detection could approve the genotype risks for many patients and this mutation is not as rare as previously believed in the Saudi region as our study has established with a 4.4 percent prevalence.
Arg506Gln 突变是促凝因子之一，也是因子 V 莱顿（FVL）家族中最常见的遗传性血栓形成倾向。506 位精氨酸被替换为谷氨酰胺的错义突变位于第 1691 位的鸟嘌呤到腺嘌呤，改变了氨基酸从精氨酸到谷氨酰胺。本研究旨在调查 FVL 基因中 G1691A 突变在首都利雅得国王 Khalid 大学医院（KKUH）的当前流行情况。自 2017 年至 2019 年，我们在这些横断面研究中招募了 482 名患者，以检测 KKUH 的 FVL 基因中的 G1691A 突变。使用 2mL EDTA 血液提取 DNA，并通过聚合酶链反应进行基因分型，使用 Sanger 测序分析数据。在这项研究中，发现 4.4%的 G1691A 突变呈阳性（杂合 GA 和纯合 AA 变体），95.6%的突变呈阴性，即纯合正常 GG 基因型。我们的研究表明，随着基因检测技术的进步及其最近的可用性，早期突变检测可以为许多患者确定基因型风险，而这种突变在沙特地区并不像之前认为的那样罕见，我们的研究发现其流行率为 4.4%。
