title: [Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency].
abstract: OBJECTIVE
  To identify the factor XI gene mutation in a Chinese pedigree of congenital factor XI deficiency.
  
  
  METHODS
  The peripheral blood samples were collected from the proband and her family members and the plasma FXI:C and FXI:Ag were assayed. All the exons and their adjacent intron sequences of factor XI were amplified with PCR and sequenced thereafter.
  
  
  RESULTS
  Two novel nonsense mutations TGG-->TGA (Trp228stop) and TGG-->TAG (Trp383stop) were identified in the family.
  
  
  CONCLUSIONS
  The compound heterozygous Trp228stop and Trp383stop may attribute to the pathogenesis of the congenital factor deficiency.
authors.affiliation: Ruijin Hospital, Shanghai Second Medical University, Shanghai Institute of Hematology, Shanghai 200025, China.
authors.forename: Wen-man
authors.initials: WM
authors.lastname: Wu
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Wang
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Chu
authors.forename: Qi-hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Qiu-lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Yi-qun
authors.initials: YQ
authors.lastname: Hu
authors.forename: Zhi-xiang
authors.initials: ZX
authors.lastname: Shen
authors.forename: Zhen-yi
authors.initials: ZY
authors.lastname: Wang
mesh_terms: D000328:Adult; D044466:Asian People; D018389:Codon, Nonsense; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000151:congenital / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; D005172:Factor XI