Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques

Summary We used the PCR to amplify three polymorphic regions of Factor IX gene on 35 Italian families: DdeI intron 1, MnlI exon f, and the polymorphism HhaI located 8 kb at the 3 end of FIX gene. We analyzed the MnlI and HhaI markers on DGGE and DdeI polymorphism on agarose gel. We reached an informativity of 78% and we found one mutation at codon 145 (exon f) during the screening for MnlI polymorphism. Furthermore, we performed 16 prenatal diagnoses on chorionic villus samples; five were female and 11 male. Four were uninformative three healthy and one affected male fetus were recognized by PCR techniques, two healthy and one affected fetus by Southern analysis. In three pregnant women examined for the first time during pregnancy, the PCR technique allowed us to perform a rapid diagnosis of noncarrier status, avoiding the fetal sampling procedures.