title: [Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema].
abstract: OBJECTIVE
  To identify the mutation of C1 inhibitor (C1 INH) gene in a Chinese family with hereditary angioedema (HAE).
  
  
  METHODS
  Polymerase chain reaction and direct sequencing were used to identify the mutation type. The sequencing results were compared with the normal sequences in GenBank to find the mutation. In order to exclude the polymorphism, 30 normal volunteers were analyzed.
  
  
  RESULTS
  One novel mutation (17839 del C) was detected in 5 patients with HAE. The mutation was not found in controls.
  
  
  CONCLUSIONS
  The mutation of C1 INH gene (17839 del C) is identified in the family. Molecular diagnosis can be made by detecting the mutation.
authors.affiliation: Department of Allergy, PUMC Hospital, CAMS and PUMC, Beijing 100730, China.
authors.forename: Yu-xiang
authors.initials: YX
authors.lastname: Zhi
authors.forename: Hong-yu
authors.initials: HY
authors.lastname: Zhang
authors.forename: Shang-zhi
authors.initials: SZ
authors.lastname: Huang
mesh_terms: D000799:Angioedema / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D003172:Complement C1 / Q000235:genetics; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D003172:Complement C1; D003174:Complement C1 Inactivator Proteins