title: [Intron 1 and 22 inversions in factor VIII gene in patients with haemophilia A].
abstract: OBJECTIVE
  To analyze intron 1 and 22 inversions in factor VIII (FVIII) gene in hemophilia A (HA) patients and and their families and to investigate the correlation between intron inversion and FVIII antibody.
  
  
  METHODS
  All patients were detected FVIII: C and FVIII antibody. In addition, 81 unrelated HA patients were directly detected by multiplex PCR and long-distance PCR for intron 1 and 22 inversions in FVIII gene. Pedigree investigation for some patients were conducted.
  
  
  RESULTS
  In 81 unrelated HA patients, 3 severe cases were found intron 1 inversion which accounted for 4.6% of total 65 severe cases. Of the 3 cases, one was FVIII antibody positive. Two female family members of a intron 1 inversion patient were identified as one carrier and one non-carrier. Twenty five of 65 (38.5%) severe cases were found intron 22 inversion. Of the 25 cases 1 was FVIII antibody positive. Nine female members in 5 HA families which had patients with intron 22 inversion were identified as 7 carries and 2 non-carriers.
  
  
  CONCLUSIONS
  Besides intron 22 inversion, intron 1 inversion was another important molecular defect in resulting in severe HA. Intron inversion analysis can also be used for deviation rectification of experiment grouping in HA patients. Intron 1 and 22 inversions may be one of the higher risk factors for resulting in FVIII antibodies.
authors.affiliation: Department of Hematology, Anhui Provincial Hospital Affiliated to Anhui Medical University, Hefei 230001, China.
authors.forename: Tan
authors.initials: T
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Dai
authors.forename: Jing-Sheng
authors.initials: JS
authors.lastname: Wu
authors.forename: Qiu-Lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Kai-Yang
authors.initials: KY
authors.lastname: Ding
authors.forename: Chang-Cheng
authors.initials: CC
authors.lastname: Zheng
authors.forename: Ping
authors.initials: P
authors.lastname: Sun
authors.forename: Xue-Feng
authors.initials: XF
authors.lastname: Wang
mesh_terms: D007446:Chromosome Inversion; D041321:Chromosomes, Human, X; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male
chemical_list: D005169:Factor VIII