[Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema].
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.
Zhi
Yu-xiang
YX
Department of Allergy, PUMC Hospital, CAMS and PUMC, Beijing 100730, China.
Zhang
Hong-yu
HY
Huang
Shang-zhi
SZ
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
D003172:Complement C1; D003174:Complement C1 Inactivator Proteins