Carrier diagnosis of F9 gross deletion by multiple ligation-dependent probe amplification in hemophilia B / 中华血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the application of multiplex ligation-dependent probe amplification (MLPA) in the gene diagnosis of hemophilia B (HB).</p><p><b>METHODS</b>MLPA and linkage analysis of short tandem repeat (STR) were used for gene diagnoses of two HB families with gross deletions of F9 gene, which were negative by sequencing.</p><p><b>RESULTS</b>The MLPA results indicated the loss of one or two exons in the two patients with the ratio lower than 0.10. Their mothers showed a ratio average of 0.50 ± 0.05 for the corresponding probes, which revealed she was carrier of large deletions of the F9 gene. The ratios of three sisters of the HB patients were normal, which indicated they were non-carriers. Linkage analysis was consistent with MLPA, but sequencing was not conclusive.</p><p><b>CONCLUSION</b>This report illustrated that MLPA technique represented an efficient method to screen F9 gene gross deletions in sequencing undiagnosed carriers of hemophilia B.</p>