title: [FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency].
abstract: OBJECTIVE
  To identify the FXI gene mutations in two Chinese pedigrees of congenital factor XI deficiency.
  
  
  METHODS
  The peripheral blood samples were collected from the probands and their family members and the plasma FXI:C and FXI:Ag were determined. All the exons and exon-intron boundries of FXI gene were amplified with PCR and sequenced thereafter.
  
  
  RESULTS
  A nonsense mutation Trp228stop and two missense mutations Glu323Lys and Leu172Pro were disclosed in the two pedigrees. All mutations existed in a heterozygous state.
  
  
  CONCLUSIONS
  The FXI gene mutations Trp228stop, Glu323Lys and Leu172Pro attribute to the pathogenesis of the congenital factor XI deficiency in Chinese. The Leu172Pro is identified for the first time.
authors.affiliation: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: Wen-Man
authors.initials: WM
authors.lastname: Wu
authors.forename: Qiu-Lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Xue-Feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Qi-Hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Wen-Bin
authors.initials: WB
authors.lastname: Wang
authors.forename: Jing
authors.initials: J
authors.lastname: Dai
authors.forename: Yi
authors.initials: Y
authors.lastname: Fang
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: Zhi-Xiang
authors.initials: ZX
authors.lastname: Sheng
authors.forename: Hong-Li
authors.initials: HL
authors.lastname: Wang
authors.forename: Zhen-Yi
authors.initials: ZY
authors.lastname: Wang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: D005172:Factor XI