| 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
Althnayan, Rahaf
Binmethem, Alanoud
AlEnezy, Reema Bader
Alhadlg, Munira Abdulrahman
Alaqeel, Arjuwana
AlQahtani, Sara H
Ghufran, Noman
Alotaibi, Abdulaziz A.
Alayed, Nada
Ali Khan, Imran
|
| 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 |
| 権利 |
|
|
言語 |
en |
|
権利情報Resource |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
|
権利情報 |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| 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 |
|
|
内容記述タイプ |
Abstract |
|
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 |
| 出版者 |
|
|
出版者 |
Nagoya University Graduate School of Medicine, School of Medicine |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
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
|
02_Al-Otaiby.pdf (208 KB)
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