Allele polymorphism analysis of hemostasis and folate metabolism genes by real-time microchip PCR


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Genetic diagnostics is widely used for detection of risk factors of hereditary thrombophilias caused by molecular defects in the coagulation system. The hereditary thrombophilias are frequently associated with higher incidences of point mutations in hemostasis (F2 20210G>A, F5 1691G>A) and folate metabolism (MTHFR 677C>T, MTHFR 1298A>C) genes. Combinations of gene abnormalities in F2 and/or MTHFR with Leiden mutation (F5 1691G>A) significantly increase risk of thrombosis. Thus, simultaneous analysis of allele polymorphism of these genes is of clinical importance. This study has demonstrated high efficiency of microchip-based multiplex real time PCR for analysis of allele specific polymorphism in hemostasis and folate metabolism genes. Using this test it is possible to analyze polymorphism of the three genes (four point mutations) in a short time; it requires a minimal quantity of DNA template and PCR reagents including DNA polymerase, and thus can be recommended for clinical laboratory diagnostics.

作者简介

K. Bogdanov

Institute of Hematology; Lumex Group

编辑信件的主要联系方式.
Email: kvbogdanov@yandex.ru
俄罗斯联邦, ul. Akkuratova 2, St. Petersburg, 197341; St. Petersburg

M. Nikitin

St. Petersburg State University; Lumex Group

Email: kvbogdanov@yandex.ru
俄罗斯联邦, St. Petersburg; St. Petersburg

M. Slyadnev

St. Petersburg State University; Lumex Group

Email: kvbogdanov@yandex.ru
俄罗斯联邦, St. Petersburg; St. Petersburg

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