Gene diagnosis of 3 haemophilia B families / 中华血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore factor IX gene mutations and molecular mechanism of haemophilia B in 3 unrelated families.</p><p><b>METHODS</b>The activated partial thromboplastin time (APTT) and FIX activity (FIX C) assay were used for phenotypic diagnosis. The STR loci gene polymorphisms for genetic linkage analysis in the patients and their family members were assayed. All of the 8 exons and the exon-intron boundaries of FIX gene were amplified by polymerase chain reaction (PCR) and direct sequencing.</p><p><b>RESULTS AND CONCLUSION</b>Mutations were found in the FIX gene of the propositi. Proband 1 had a G22119A mutation in exon 6, proband 2 a G7392C mutation in exon 2 and proband 3 a T32685C mutation in exon 8.</p>