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Detection of thrombophilic mutations related to spontaneous abortions by a multiplex SNaPshot methodMadjunkova, S. ...Spontaneous abortion is a significant clinical problem of different etiologies. Certain thrombophilia gene mutations have been associated with an increased risk of spontaneous abortion. Also, ... mutations in folate-related genes can lead to abnormal chromosomal segregation during meiosis which is themost common cause of spontaneous abortion. We have developed a multiplex single-base extension reaction assay that allows simultaneous analysis of 10 different mutations in thrombophilia- and folate-related genes (Factor V Leiden G1691A, Factor V H1299R, Factor II G20210A, Factor XIII V34L, PAI-I -675 4G/5G, FGB -455G/A, MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G). Using this method we have studied 232 women who had a spontaneous abortion and 209 of their male partners. Prevalence of Factor II G20210A and Factor V H1299R mutations was significantly higher in the women than in their male partners (2.4% and 0.7%, respectively [p=0.0499] for the Factor II mutation and 9.3% and 5.7%, respectively [p=0.0485] for the Factor V mutation). The prevalence of MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G mutations did not differ between the studied groups. In conclusion, we have developed a rapid, simple, reliable, and inexpensive multiplex SNaPshot method for determination of 10 thrombophilic mutations that may result in spontaneous abortions.Source: Genetic testing and molecular biomarkers. - ISSN 1945-0265 (Vol. 16, no. 4, apr. 2012, str. 259-264)Type of material - article, component partPublish date - 2012Language - englishCOBISS.SI-ID - 678316
Author
Madjunkova, S. |
Volk, Marija, dr. med. |
Peterlin, Borut, 1963- |
Plašeska Karanfilska, Dijana
Topics
spontani splav |
genske mutacije |
mejoza |
mutacije
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source: Genetic testing and molecular biomarkers. - ISSN 1945-0265 (Vol. 16, no. 4, apr. 2012, str. 259-264)
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Madjunkova, S. | ![]() |
Volk, Marija, dr. med. | 26331 |
Peterlin, Borut, 1963- | 10458 |
Plašeska Karanfilska, Dijana | ![]() |
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