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[Genetic analysis for a family affected with hemophilia type A due to a large deletion of F8 gene].

OBJECTIVE
To detect potential mutation of F8 gene in a family affected with hemophilia type A.


METHODS
Inverse-shifting PCR (IS-PCR), next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and short tandem repeat (STR) assays were used.


RESULTS
IS-PCR showed that no inversion of F8 gene has occurred in the family. NGS detected no point mutation or small InDel in the proband, but suggested that the exon 2 of the F8 gene may be deleted. MLPA also showed that exon 2 of the F8 gene was absent in the proband, while the carriers were heterozygous for the deletion, though STR analysis yielded a paradoxical result.


CONCLUSION
NGS analysis has identified a large deletion of exon 2 of the F8 gene in a family affected with hemophilia A. Discretion is required when STR analysis was used for carrier screening and antenatal diagnosis. Combination of multiple methods can improve the accuracy for the detection of F8 gene mutations.