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tions, including recurrent spontane-ous abortions, intrauterine growth retardation, and neonatal demise, tested positive for the C20221T or C20209T mutation (6). In summary, all 3 mutations (C20209T, A20218G, and C20221T) give LightCycler melt-ing curves that are clearly distin-guishable from those obtained in wild-type or G20210A samples. Therefore, the conscientious hints in-cluded in the factor II assay package insert noting that these rare muta-tions will possibly lead to a false-positive result might be exaggerated. Furthermore, it is tempting to specu-late that all 3 variants are rare and possibly have different frequencies in different ethnic groups. Because the patient identified in our laboratory as carrying the A20218G transition also tested het-erozygous for factor V Leiden (G1691A) and the methylenetetrahy-drofolate reductase (C677T) muta-tion, the clinical significance of this mutation is currently unknown. However, based on the knowledge that the G20210A substitution repre-sents in vitro a gain-of-function mu-tation causing mRNA accumulation and increased protein synthesis (7), creates in vitro but not in vivo a more effective polyadenylation site and cleavage site (7–9), and is proposed to be associated with different mRNA structures leading to abnor-mal mRNA function (9), it will be worthwhile to initiate additional studies to estimate the impact of this genetic variant on risk assessment for thrombotic events and adverse pregnancy outcomes

Year: 2015
OAI identifier: oai:CiteSeerX.psu:10.1.1.627.1475
Provided by: CiteSeerX
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