recurrent pregnancy loss is usually defined as the loss of two or more consecutive pregnancies before 20 weeks of gestation, which occurs in approximately 5% of reproductive-aged women. it has been suggested that women with thrombophilia have an increased risk of pregnancy loss and other adverse pregnancy outcomes. thrombophilia is an important predisposition to blood clot formation and is cons...

Recurrent pregnancy loss is usually defined as the loss of two or more consecutive pregnancies before 20 weeks of gestation, which occurs in approximately 5% of reproductive-aged women. It has been suggested that women with thrombophilia have an increased risk of pregnancy loss and other adverse pregnancy outcomes. Thrombophilia is an important predisposition to blood clot formation and is cons...

BACKGROUND AND AIMS Our preliminary results laboratory have shown some association between C677T and A1298C MTHFR mutations and factors influencing survival in colorectal cancer. We studied the survival of patients with colorectal cancer depending on the initial Dukes-MAC stage of the disease at the time of diagnosis and the MTHFR mutation present. METHODS We randomly selected 69 patients wit...

BACKGROUND Intrauterine growth restriction (IUGR) is a major cause of fetal morbidity and mortality during pregnancy. The role of mutation in the factor V gene, prothrombin gene, MTHFR gene, as risk factors for intrauterine growth restriction during pregnancy, is not very well known so far. MATERIALS AND METHODS This is a retrospective study of 151 pregnant women with a history of complicated...

with the replacement of A1298C wild-type reverse primer with A1298C mutant reverse primer, which had the following sequence: 5 -GGTAAAGAACAAAGACTTCAAAGACACTGTG-3 (Sigma-Aldrich). ARMS PCR conditions were 95 °C for 5 min; 40 cycles of 95 °C for 30 s, 57 °C for 30 s, and 72 °C for 30 s; and 72 °C for 5 min. The wild-type reaction produces a 120-bp product, whereas the mutant reaction produces a 1...

We have investigated the incidence of the C677T and A1298C methylene tetrahydrofolate reductase (MTHFR) gene single nucleotide polymorphisms (SNPs) in the South Indian Tamil Nadu population with a total number of 72 individuals. The MTHFR genotyping was performed using the polymerase chain reaction followed by restriction enzyme analysis. Homozygosity for the MTHFR A1298C SNP was detected in 15...

Abstract Background Polymorphism A1298C of the methylenetetrahydrofolate-reductase (MTHFR) gene has been implicated in spontaneous abortion. In this study, we determined the allele and genotype frequencies of this polymorphism in recurrent spontaneous abortion (RSA) and implantation failure after in vitro fertilization (IVF). Materials and Methods We performed a case–control study on 60 wom...

We investigated the association between 12 single nucleotide polymorphisms (SNPs) in 11 genes involved in folate metabolic and preterm birth. A subset of SNPs selected from 11 genes/loci involved in the folic acid metabolism pathway were subjected to SNaPshot analysis in a case-control study. Twelve SNPs (CBS-C699T, DHFR-c594+59del19, GST01-C428T, MTHFD-G1958A, MTHFR-C677T, MTHFR-A1298C, MTR-A2...

Background: Neonatal thrombotic diseases can cause mortality or serious morbidity and disability.Case report: In this report, we present a case of neonatal inferior vena cava thromboembolism with several underlyingfactors. Hereditary thrombophilia and genetic mutation in plasminogen activator inhibitor-1 and MTHFR A1298C genesin conjunction with cleft palate resulted in poor l...

A 21 year college student came with a history of generalized tonic-clonic seizures. MR Venography revealed the presence of left sigmoid and transverse sinus thrombosis with secondary venous hemorrhagic infarcts. After thorough investigation into cause of thrombosis patient was found to have a heterozygous MTHFR A1298C mutation which was causing cerebral venous sinus thrombosis.