一个遗传性血管水肿家系C1抑制物基因突变的检测分析

Identification of a Novel Mutation of C1 Inhibitor Gene ina Chinese Family with Hereditary Angioedema

目的对一个遗传性血管水肿(HAE)家系患者C1抑制物(C1INH)基因的突变类型进行检测分析。方法用聚合酶链反应扩增产物直接测序法检测HAE患者C1INH基因8个外显子及旁侧内含子序列,将检测结果与GenBank公布的C1INH基因序列相比较,确定突变。为除外多态性可能,在30名正常人中对该突变进行分析。结果该家系中的5例患者外显子8中均检测到1种新的突变类型(核苷酸序列17839delC),正常人中无此改变。结论在该家系中发现C1INH基因核苷酸序列17839delC突变,该突变可能是此家系发病的分子基础。

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.