Plasminogen activator inhibitor-1 4G/5G and 5,10-methylene-tetrahydrofolate reductase C677T polymorphisms in polycystic ovary syndrome

Methyltetrahydrofolate Reductase C677T Mutation and 4G/5G Plasminogen Activator Inhibitor-1 Polymorphism in a Child with Deep Vein Thrombosis

Polycystic ovary syndrome and MTHFR gene C677T and A1298C polymorphisms

In this study, it was aimed to determine the allele frequencies and genotype distributions of MTHFR gene C677T and A1298C polymorphisms in a Turkish study population with polycystic ovary syndrome. Genomic DNA was isolated from blood samples of 30 patients with polycystic ovary syndrome and 28 healthy controls. PCR-RFLP technique was used to analyze MTHFR gene C677T and A1298C polymorphisms. Pr...

methyltetrahydrofolate reductase c677t mutation and 4g/5g plasminogen activator inhibitor-1 polymorphism in a child with deep vein thrombosis

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[Mutations in the methylene-tetrahydrofolate reductase gene and Down syndrome].

Down syndrome (DS) is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors for meiotic nondisjunction are not well established. A recent preliminar...

The prevalence of 4G5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in polycystic ovarian syndrome and its association with plasma PAI-1 levels.

OBJECTIVE To investigate the prevalence of 4G5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in polycystic ovary syndrome (PCOS) and its functional significance. DESIGN Case-control study. METHODS We studied 98 patients and 64 controls. Body mass index (BMI) and waist-to-hip (WHR) ratio were determined. Blood samples were obtained for DNA analysis. PAI-1 plasma levels, ser...