Methylenetetrahydrofolate Reductase CpG Islands: Epigenotyping
نویسندگان
چکیده
منابع مشابه
Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Patients with Glanzmann’s Thrombasthenia
Background: The most common polymorphisms identified in the Methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C lead to defective activity of this enzyme and increase the risk of venous and arterial thrombosis. There are limited investigations regarding the effects of thrombogenic polymorphisms on the clinical phenotypes of rare hereditary hemorrhagic disorders like Glanzmann's t...
متن کاملCpG islands--'a rough guide'.
Mammalian genomes are punctuated by DNA sequences containing an atypically high frequency of CpG sites termed CpG islands (CGIs). CGIs generally lack DNA methylation and associate with the majority of annotated gene promoters. Many studies, however, have identified examples of CGI methylation in malignant cells, leading to improper gene silencing. CGI methylation also occurs in normal tissues a...
متن کاملMethylenetetrahydrofolate reductase polymorphism and pre-eclampsia.
A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a C to T substitution at nucleotide 677, is responsible for reduced MTHFR activity and associated with modestly increased plasma homocysteine concentrations. Since underlying maternal vascular disease increases the risk of pre-eclampsia, we had the working hypothesis that pre-eclampsia patients would have an inc...
متن کاملMethylenetetrahydrofolate reductase gene polymorphisms in Burkina Faso.
In Burkina Faso, the levels of plasma homocysteine (Hcy) are lower and the methionine loading tests suggest a more effective Hcy metabolism [1,2]. We found a relevant difference in the allele frequencies of C677T: T 7.7% in the young and 3.3% in old subjects respectively (see Table 1). Frequencies of C677T genotypes in old and young individuals were in Hardy Weinberg equilibrium (HWE). The diff...
متن کاملMethylenetetrahydrofolate reductase gene and coronary artery disease.
BACKGROUND Hypermocysteinemia has been substantiated as a risk factor for occlusive vascular disease. A common mutation (nucleotide 677 C-->T) has been described recently in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, which results in a valine for alanine substitution, a thermolabile enzyme, and a tendency to elevate plasma homocysteine levels and which has been proposed to contr...
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ژورنال
عنوان ژورنال: Journal of Clinical Laboratory Analysis
سال: 2015
ISSN: 0887-8013
DOI: 10.1002/jcla.21860