title: [Genetic analysis of a Chinese family with inherited afibrinogenemia].
abstract: OBJECTIVE
  To identify the mutations of fibrinogen genes in a Chinese family with inherited afibrinogenemia.
  
  
  METHODS
  Samples of peripheral blood were collected from 17 members of 3 generations in a Chinese family with inherited afibrinogenemia, including the proband, female, aged 8. All the exons and exon-intron boundaries of the three fibrinogen genes were analyzed by direct sequencing.
  
  
  RESULTS
  The sequencing results of the proband revealed compound 2 heterozygous mutations in fibrinogen FGA gene, one being a splice mutation (g.1892-1899delAGTAorGTAA) in the boundary between exon3 and intron3 of the FGA gene and traced back to her patriline and the other being a 1,238 bp large deletion (g.1978-3215) in the same gene and originating from her matriline.
  
  
  CONCLUSIONS
  Inherited afibrinogenemia is caused by the compound heterozygous deletion in the fibrinogen FGA gene.
authors.affiliation: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Fang
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Wang
authors.forename: Qi-hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Wen-man
authors.initials: WM
authors.lastname: Wu
authors.forename: Qiu-lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Jing
authors.initials: J
authors.lastname: Dai
authors.forename: Yi-qun
authors.initials: YQ
authors.lastname: Hu
authors.forename: Zhen-yi
authors.initials: ZY
authors.lastname: Wang
mesh_terms: D002648:Child; D005260:Female; D005340:Fibrinogen / Q000032:analysis / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D009154:Mutation
chemical_list: D005340:Fibrinogen