title: [Long distance-PCR for detection of factor VIII gene inversion in patients with severe hemophilia A].
abstract: The aim of current study was to detect intron 22 inversion of factor VIII gene in severe hemophilia A (HA) patients and screen the carriers of the gene inversion. Fifty-five cases of severe HA were involved and factor VIII gene inversion was detected and identified by long distance-PCR (LD-PCR) and 0.6% agarose gel electrophoresis. The 11 kb and 12 kb bands indicate the factor VIII gene inversion and non-inversion, respectively. Occurring of both 11 kb and 12 kb bands indicates a carrier of the inversion. The results showed that factor VIII gene inversion existed in 22 out of 55 cases, which accounted for about 40% of total detected patients. Five carriers of factor VIII gene inversion were diagnosed from the members in 15 families. In conclusion, LD-PCR assay is a simple, rapid and accurate method for detection of factor VIII gene inversion, and this approach is helpful in screening, carrier testing, and prenatal diagnosis of severe hemophilia A.
authors.affiliation: School of Medicine, Shandong University, Jinan 250012, China. pfding2000@163.com
authors.forename: Pei-Fang
authors.initials: PF
authors.lastname: Ding
authors.forename: Wei-Sheng
authors.initials: WS
authors.lastname: Sun
authors.forename: Qin-You
authors.initials: QY
authors.lastname: Wang
authors.forename: De-Chun
authors.initials: DC
authors.lastname: Liu
authors.forename: Xue-Qin
authors.initials: XQ
authors.lastname: Zhang
authors.forename: Bin
authors.initials: B
authors.lastname: Teng
authors.forename: Fa-Kui
authors.initials: FK
authors.lastname: Shen
mesh_terms: D000293:Adolescent; D000328:Adult; D000941:Antigens / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D007446:Chromosome Inversion; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000097:blood / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D014841:von Willebrand Factor / Q000276:immunology
chemical_list: D000941:Antigens; C029417:Von Willebrand antigen; D014841:von Willebrand Factor; D005169:Factor VIII