Genetic susceptibility to pregnancy-related venous thromboembolism: roles of factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations

Article Abstract:

Mutations in genes associated with blood coagulation may increase the risk of venous thromboembolism in pregnancy. Thromboembolisms are blood clots that travel through the bloodstream and obstruct vessels. Researchers genetically tested 42 women with pregnancy-associated thromboembolism, and 213 with healthy pregnancies. Mutations in genes encoding factor V Leiden, prothrombin, and methylenetetrahydrofolate reductase were detected in 60% of women with thromboembolism and 22% of healthy women. Genetic testing in pregnant women with a history of thromboembolism may be indicated.

Italy, Pregnancy, Complications of, Pregnancy complications

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Mutations of the p53 gene as a prognostic factor in aggressive B-cell lymphoma

Article Abstract:

Mutations of the p53 gene appear to predict poor response to treatment and lower survival rates in patients with aggressive B-cell lymphoma. Researchers analyzed the DNA sequence of the p53 gene in cancerous cells taken from 102 patients with aggressive B-cell lymphoma. Nearly one-quarter had p53 mutations. One-quarter of patients with p53 mutations achieved complete remission compared with three-quarters of patients with a normal gene. An estimated 16% of patients with a p53 mutation would survive to 5 years versus 64% of patients with a normal gene.

Abnormalities, Prognosis, Lymphomas, Tumor suppressor genes

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Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium

Article Abstract:

Women with mutations in the genes for factor V or prothrombin have an increased risk of thromboembolism during pregnancy. Thromboembolism occurs when a blood clot forms in a blood vessel and then travels to some other organ. This is dangerous because the clot can block the flow of blood to that organ. Genetic analysis was used on blood samples from 119 women with a history of thromboembolism during pregnancy and 233 women with no history. Women with a history of thromboembolism were much more likely to have one or both mutations.

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