A genetic risk factor for thrombophilia in a Han Chinese family

Sun,Guoping; Jia,Yicong; Meng,Jingye; Ou,Minglin; Zhu,Peng; Cong,Shan; Luo,Yadan; Sui,Weiguo; Dai,Yong

doi:10.3892/mmr.2017.6217

April-2017 Volume 15 Issue 4

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April-2017 Volume 15 Issue 4

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Article Open Access

A genetic risk factor for thrombophilia in a Han Chinese family

Authors:
- Guoping Sun
- Yicong Jia
- Jingye Meng
- Minglin Ou
- Peng Zhu
- Shan Cong
- Yadan Luo
- Weiguo Sui
- Yong Dai
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Affiliations: Central Laboratory, Shenzhen Pingshan People's Hospital, Shenzhen, Guangdong 518118, P.R. China, Department of Genetics, The Life Science College, Guangxi Normal University, Guilin, Guangxi 541002, P.R. China, Department of Hematology, The Third People's Hospital of Shenzhen, Shenzhen, Guangdong 518020, P.R. China, Department of Nephrology, Guilin 181st Hospital, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi 541002, P.R. China, Clinical Medical Research Center, The Second Clinical Medical College, Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong 518020, P.R. China

Copyright: © Sun et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
Pages: 1668-1672
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Published online on: February 17, 2017

https://doi.org/10.3892/mmr.2017.6217
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Abstract

Thrombophilia is a multifactorial disorder involving environmental and genetic factors. Well‑known factors that result in predisposition to congenital disorders associated with thrombophilia include antithrombin deficiency, protein C and S deficiency, Factor V Leiden mutation, abnormal prothrombin and antiphospholipid syndrome. The present study revealed an association between a mutation of the F2 gene, which codes for coagulation factor II, thrombin, and the risk of thrombophilia in a Han Chinese family, of which four members (I‑2, II‑2, II‑3 and III‑1) had a history of deep venous thromboembolism. The disease was measured in this family using laboratory measurements and computed tomography angiography. To identify the abnormality underlying the increased thrombophilia risk, whole‑exome sequencing technology was used to analyze two affected individuals (II‑2 and III‑1). An exonic missense F2 mutation, T165M (NM_000506:c.C494T:p.T165M;rs5896), was identified from a total of 2,222 and 2,203 genetic variations observed in the two affected individuals, respectively, which were subsequently filtered and confirmed using Sanger sequencing. I‑2, II‑3 and III‑1 shared this mutation with the proband (II‑2), and II‑6 had a heterozygous form of the mutation. This deleterious mutation was not identified in normal controls. The present study may improve understanding of the function of the F2 gene.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

A genetic risk factor for thrombophilia in a Han Chinese family

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