title: [Inherited coagulation factor X deficiency caused by two novel mutations in factor X gene].
abstract: OBJECTIVE
  To explore the molecular mechanisms involved in a pedigree with inherited coagulation factor X (FX) deficiency.
  
  
  METHODS
  The activated partial thromboplastin time (APTT), prothrombin time (PT), FX activity (FX:C) and FX antigen (FX:Ag) test were adopted for phenotype diagnosis. All the 8 exons, intron/exon boundaries and the 5'untranslated regions (UTR) of the FX gene were amplified by polymerase chain reaction (PCR) from the genomic DNA extracted from the peripheral blood of the propositus. The PCR products were screened by direct sequencing. The mutation was confirmed by allele specific PCR (ASPCR).
  
  
  RESULTS
  The phenotype of the propositus was identified as FX deficiency (type II). Two novel FX gene mutations were detected in the propositus: one was a donor site splice mutation in intron 1 (IVS1 + 1G-->A), another was a missense mutation 1185G-->A in exon 8 (Arg347His).
  
  
  CONCLUSIONS
  The FX deficiency of the propositus is caused by double heterozygous mutations IVS1 + 1G-->A and Arg347His.
authors.affiliation: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: Wen-bin
authors.initials: WB
authors.lastname: Wang
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Wang
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Qi-hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Rong-fu
authors.initials: RF
authors.lastname: Zhou
authors.forename: Shuang
authors.initials: S
authors.lastname: Xie
authors.forename: Yi-qun
authors.initials: YQ
authors.lastname: Hu
authors.forename: Zhen-yi
authors.initials: ZY
authors.lastname: Wang
mesh_terms: D000941:Antigens / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
chemical_list: D000941:Antigens; C010515:factor X antigen; D005170:Factor X