[Gene diagnosis of factor VIII gene inversion by LD-PCR for 60 patients with severe hemophilia A]

Abstract

Objective: To identify factor VIII(F VIII) gene inversion among 60 patients with severe hemophilia A (HA) in Tianjin region.

Methods: DNA was extracted from peripheral blood of HA patients; F VIII gene inversion was identified by long distance-polymerase chain reaction(LD-PCR) and 0.6% agarose gel electrophoresis. Those with only 11 kb band were diagnosed as the cases of F VIII gene inversion. Those with only 12 kb band were identified as wild type(non-inversion), and those with both 11 kb and 12 kb bands were recognized as inversion carriers.

Results: There were 21 patients with F VIII gene inversion, accounting for 35% of the 60 patients with severe HA.

Conclusion: LD-PCR can be used to detect the F VIII gene inversion directly; it is an effective method for the gene diagnosis of severe hemophilia A.