[一个中国遗传性血管性水肿家系中C1抑制剂基因新突变的鉴定]
[Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema].
作者信息
Zhi Yu-xiang, Zhang Hong-yu, Huang Shang-zhi
机构信息
Department of Allergy, PUMC Hospital, CAMS and PUMC, Beijing 100730, China.
出版信息
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2003 Dec;25(6):664-6.
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.
目的
鉴定一个遗传性血管性水肿（HAE）中国家系中C1抑制物（C1 INH）基因的突变情况。
方法
采用聚合酶链反应和直接测序法鉴定突变类型。将测序结果与GenBank中的正常序列进行比较以发现突变。为排除多态性，对30名正常志愿者进行了分析。
结果
在5例HAE患者中检测到一种新的突变（17839 del C）。对照组未发现该突变。
结论
在该家系中鉴定出C1 INH基因的突变（17839 del C）。通过检测该突变可进行分子诊断。
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