Title of article
Methyltetrahydrofolate Reductase C677T Mutation and 4G/5G Plasminogen Activator Inhibitor-1 Polymorphism in a Child with Deep Vein Thrombosis
Author/Authors
Eshghi, Peyman shahid beheshti university of medical sciences - Departmen of pediatric hematology/oncology, تهران, ايران , Goudarzi Pour, Kourosh shahid beheshti university of medical sciences - Departmen of pediatric hematology/oncology, تهران, ايران , Aghakhani, Roxana shahid beheshti university of medical sciences - Departmen of pediatric hematology/oncology, تهران, ايران
From page
167
To page
170
Abstract
Methyltetrahydrofolate reductase (MTHFR) enzyme is responsible for conversion of 5, 10- methyl tetrahydrofolate to 5-tetrahydrofolate for folic acid (folate) synthesis. One of the most common MTHFR mutations is a nucleotide transition from C-to-T at position 677 that results in amino acid alteration from alanine to valine. Coinheritance of MTHFR mutation with Plasminogen activator inhibitor-1 (PAI-1) polymorphism is a rare event which could increase the risk of coagulation and thrombosis.
Keywords
Deep vein thrombosis , Mutation , Genetic polymorphism
Journal title
Iranian Journal of Blood and Cancer (IJBC)
Journal title
Iranian Journal of Blood and Cancer (IJBC)
Record number
2549521
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