Reports of Biochemistry and Molecular Biology
rbmb.net
Basic Sciences
http://rbmb.net
1
admin
2322-3480
2322-3480
10.61186/rbmb
en
jalali
1393
2
1
gregorian
2014
5
1
2
2
online
1
fulltext
en
Inherited Genetic Markers for Thrombophilia in Northeastern Iran (a Clinical-Based Report)
زیست شناسی ملکولی
Molecular Biology
<p style="text-align: justify;"><strong><em>Background:</em></strong> Thrombophilia is a main predisposition to thrombosis due to a procoagulant state. Several point mutations play key roles in blood-clotting disorders, which are grouped under the term thrombophilia. These thrombophilic mutations are methylenetetrahydrofolate reductase (MTHFR, C677T, and A1298C), factor V Leiden (G1691A), prothrombin gene mutation (factor II, G20210A), and plasminogen activator inhibitor (PAI). In the present study, we assessed the prevalence of the above thrombophilia markers in patients with recurrent pregnancy loss or first and second trimester abortions, infertility, and failed in vitro fertilization (IVF).</p>
<p style="text-align: justify;"><em><strong>Methods:</strong></em> This study was conducted among 457 cases those were referred to detect the inherited genetic markers for thrombophilia. Markers for MTHFR, Factor II, and Factor V were assessed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and PAI was assessed by Amplification Refractory Mutation System (ARMS-PCR).</p>
<p style="text-align: justify;"><em><strong>Results:</strong></em> Two hundred sixty cases (56.89%) were diagnosed as having at least one thrombophilia marker, whereas 197 cases (43.11%) had no thrombophilia markers and were normal.</p>
<p style="text-align: justify;"><em><strong>Conclusion:</strong></em> According to the current study, the pattern of abnormal genetic markers for thrombophilia in northeastern Iran demonstrates the importance of genetic evaluations in patients who show clinical abnormalities with recurrent spontaneous abortion (RSA) or other serious obstetric complications.</p>
Factor II, Factor V, Thrombophilia, MTHFR, PAI, Thrombophilic markers
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81
http://rbmb.net/browse.php?a_code=A-10-1-25&slc_lang=en&sid=1
Fatemeh
Keify
10031947532846005986
10031947532846005986
No
Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
Mohsen
Azimi-Nezhad
10031947532846005987
10031947532846005987
No
Pardis Clinical and Genetics Laboratory, Mashhad, Iran - Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran - Université de Lorraine, Unité de Recherche “Interactions Gène-Environnement en Physiopathologie Cardio Vasculaire” l’UMR INSERM U 1122, IGE-PCV, Nancy, France.
Narges
Zhiyan-abed
10031947532846005988
10031947532846005988
No
Pardis Clinical and Genetics Laboratory, Mashhad, Iran - Razavi’s Social Welfare Organization, Mashhad, Iran.
Mojila
Nasseri
10031947532846005989
10031947532846005989
No
Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
Mohammad Reza
Abbaszadegan
abbaszadeganmr@mums.ac.ir
10031947532846005990
10031947532846005990
Yes
Pardis Clinical and Genetics Laboratory, Mashhad, Iran - Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, MUMS, Mashhad, Iran.