title: [Pathogenic Genes of A Hereditary Hemorrhagic Telangiectasia Pedigree].
abstract: OBJECTIVE
  To identify the mutation of ENG and ALK1 genes in a hereditary hemorrhagic telangiectasia pedigree.
  
  
  METHODS
  14 exons of ENG gene and 9 exons of ALK1 gene in 11 menbers of this pedigree 4 generation were amplified by reverse transcription-polymerase chain reaction (RT-PCR), the PCR products were screened by direct sequencing.
  
  
  RESULTS
  A nonsense mutation c.447G > A was found in exon 4 of ENG gen of the pedigreee, resulting in change of Trp 149 into Stop, while no gene mutation was found in ALK1 gene.
  
  
  CONCLUSIONS
  The hereditary hemorrhagic telangiectasia in this pedigree is caused by the nonsense mutation c.447G > A in ENG gene.
authors: Department of Hematology, Baoan District People's Hospital, Shenzhen 518101, Guangdong Province, China.
authors: Xiao-Hui
authors: XH
authors: Cheng
authors: Department of Hematology, Baoan District People's Hospital, Shenzhen 518101, Guangdong Province, China. E-mail: sztchq@163.com.
authors: Chuan-Qing
authors: CQ
authors: Tu
authors: Department of Hematology, Baoan District People's Hospital, Shenzhen 518101, Guangdong Province, China.
authors: Shun-Chang
authors: SC
authors: Sun
authors: Department of Hematology, Baoan District People's Hospital, Shenzhen 518101, Guangdong Province, China.
authors: Jan-Yun
authors: JY
authors: Li
authors: Department of Hematology, Baoan District People's Hospital, Shenzhen 518101, Guangdong Province, China.
authors: Xu-Yan
authors: XY
authors: Zhang
authors: Department of Hematology, Baoan District People's Hospital, Shenzhen 518101, Guangdong Province, China.
authors: Dian-Wen
authors: DW
authors: Wang
authors: Department of Hematology, Baoan District People's Hospital, Shenzhen 518101, Guangdong Province, China.
authors: Can
authors: C
authors: Huang
mesh_terms: D018389:Codon, Nonsense; D005091:Exons; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013683:Telangiectasia, Hereditary Hemorrhagic
chemical_list: D018389:Codon, Nonsense