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