MTHFR C677T and prothrombin G20210A mutations in a woman from Dalmatia with silent brain infarction. .

نویسندگان

  • Nikolina Ivica
  • Irena Pintarić
  • Marina Titlić
چکیده

A 55-year-old, previously healthy woman, presented with frequent headaches. She had no neurological disturbances, but had a positive family history; her father died from stroke. Magnetic resonance imaging showed brain infarction; therefore detailed diagnostic evaluation of thrombophilia markers and genetic testing were performed. The patient was found to be homozy- gous for the C677T mutation of the methylenetetrahydrofolate reductase gene and heterozygous for the mutation of the prothrombin G20210A gene. No other cause of cerebral infarction was found in the patient.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Factor V Leiden, MTHFR C677T and Prothrombin Gene Mutation G20210A in Iranian Patients with Venous Thrombosis

Background: Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis. Methods: This study was carried out...

متن کامل

Acute Myocardial Infarction in a Young Woman With Heterozygous Polymorphism for Methylenetetrahydro- folate Reductase and Prothrombin Gene Mutation

Many publications demonstrate a relationship between acute myocardial infarction and genetic mutations. In our case, a 26-yearold young woman was admitted to the hospital with complaints of severe chest pain. She had no risk factors for coronary heart disease but two of her sisters and one of her brothers had suffered sudden cardiac death. DNA samples obtained from peripheral blood were studied...

متن کامل

Factor V leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages.

The aim of this study was to investigate the relationship between recurrent miscarriages and factor V Leiden, prothrombin G20210A and C677T methylenetetrahydrofolate reductase (MTHFR) mutations. In this case-control study the prevalence of factor V Leiden, prothrombin G20210A and C677T methylenetetrahydrofolate reductase mutations was determined in a consecutive series of 80 recurrent miscarria...

متن کامل

Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies.

BACKGROUND The association between the inherited gene mutations of factor V, prothrombin, and homocysteine metabolism and venous thromboembolic events is accepted widely; however, their influence on the arterial circulatory system remains controversial. METHODS We performed a MEDLINE search to identify published case-control and cohort studies correlating the factor V Leiden, prothrombin (PT)...

متن کامل

The End of a Long Debate: Methylenetetrahydrofolate Reductase Gene Polymorphisms do not Increase Thrombosis Risk.

We read the article by Ozturk et al. [1], in which they reported the frequency of some thrombophilic mutations in eastern Turkey. The authors have defined single nucleotide gene variations of factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T as thrombophilic mutations. However, as current scientific data do not support an increased risk of thrombosis in...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Acta clinica Croatica

دوره 53 3  شماره 

صفحات  -

تاریخ انتشار 2014