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Materials and Methods

After informed consent was obtained, genomic DNAs of 24 hemophilia B patients referred to Omid hospital were extracted according to standard protocols. PCR amplification and single strand conformation polymorphism (SSCP) on nondenaturing polyacrylamid gel were performed separately on each sample for eight exons and exon-intron boundaries and promoter. The results of SSCP were compared to normal control and sequencing was performed for those with different migration patterns.

Results

The sequencing results showed 70.8% missense mutation, 16.7% deletion, 8.3% nonsense mutation, and 4.2% insertion. Many of the mutations had occurred in exon 8 it came out to be similar to haemophilia B mutation database. Malmo polymorphism (Ala 148 Thr) was found in one family. Four novel mutations not previously reported in the database were also found.

Conclusions

This study …