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


CONCLUSIONS
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.
Liang
Y
Y
Basic Medical Research Center, Beijing, Chaoyang Hospital Affiliated to Capital Medical University, Beijing, 100020 P.R. China. Liujz@public.bta.net.cn
Ji
L
L
Wang
L
L
Liu
J
J
D007446:Chromosome Inversion; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*
D005169:Factor VIII