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.
Conclusion: The mutation of C1 INH gene (17839 del C) is identified in the family. Molecular diagnosis can be made by detecting the mutation.
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