Polimorfismele genei factorului IX în populaţia Moldovei

Abstract

Analysis of factor IX gene polymorphisms is considered the best approach for carrier detection and prenatal diagnosis of hemophilia B when the gene mutation is not identifi ed. The incidence of polymorphic markers differs in populations examined. In this study we analyzed the allele frequencies and heterozigosity rate of 5 factor IX gene polymorphisms MseI, DdeI, TaqI, Taq-Alu4 and HhaI. The combined analysis of these polymorphisms provides an informative genetic marker in up to 100% of hemophilia B families in Moldova.