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  1. C100 医学部/医学系研究科
  2. C100b 紀要
  3. Nagoya journal of medical science
  4. 83(3)

The prevalence of Factor V Leiden (Arg506Gln) mutation in King Khalid University Hospital patients, 2017–2019

https://doi.org/10.18999/nagjms.83.3.407
https://doi.org/10.18999/nagjms.83.3.407
1170a077-6b15-4ebd-9f86-1b49f143db02
名前 / ファイル ライセンス アクション
02_Al-Otaiby.pdf 02_Al-Otaiby.pdf (208 KB)
Item type itemtype_ver1(1)
公開日 2021-09-16
タイトル
タイトル The prevalence of Factor V Leiden (Arg506Gln) mutation in King Khalid University Hospital patients, 2017–2019
言語 en
著者 Al-Otaiby, Maram

× Al-Otaiby, Maram

en Al-Otaiby, Maram

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Althnayan, Rahaf

× Althnayan, Rahaf

en Althnayan, Rahaf

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Binmethem, Alanoud

× Binmethem, Alanoud

en Binmethem, Alanoud

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AlEnezy, Reema Bader

× AlEnezy, Reema Bader

en AlEnezy, Reema Bader

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Alhadlg, Munira Abdulrahman

× Alhadlg, Munira Abdulrahman

en Alhadlg, Munira Abdulrahman

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Alaqeel, Arjuwana

× Alaqeel, Arjuwana

en Alaqeel, Arjuwana

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AlQahtani, Sara H

× AlQahtani, Sara H

en AlQahtani, Sara H

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Ghufran, Noman

× Ghufran, Noman

en Ghufran, Noman

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Alotaibi, Abdulaziz A.

× Alotaibi, Abdulaziz A.

en Alotaibi, Abdulaziz A.

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Alayed, Nada

× Alayed, Nada

en Alayed, Nada

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Ali Khan, Imran

× Ali Khan, Imran

en Ali Khan, Imran

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アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
キーワード
主題Scheme Other
主題 Factor V Leiden (FVL)
キーワード
主題Scheme Other
主題 G1691A mutation
キーワード
主題Scheme Other
主題 Arg506Gln
キーワード
主題Scheme Other
主題 R506Q
キーワード
主題Scheme Other
主題 KKUH
内容記述
内容記述 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.
言語 en
内容記述タイプ Abstract
内容記述
内容記述 This is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (http://creativecommons.org/licenses/by-nc-nd/4.0/).
言語 en
内容記述タイプ Other
出版者
言語 en
出版者 Nagoya University Graduate School of Medicine, School of Medicine
言語
言語 eng
資源タイプ
資源タイプresource http://purl.org/coar/resource_type/c_6501
タイプ departmental bulletin paper
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
ID登録
ID登録 10.18999/nagjms.83.3.407
ID登録タイプ JaLC
関連情報
関連タイプ isVersionOf
識別子タイプ URI
関連識別子 https://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/833.html
収録物識別子
収録物識別子タイプ PISSN
収録物識別子 0027-7622
収録物識別子
収録物識別子タイプ EISSN
収録物識別子 2186-3326
書誌情報 en : Nagoya Journal of Medical Science

巻 83, 号 3, p. 407-417, 発行日 2021-08
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