| 遗传性血管性水肿分子遗传学进展 |
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| 引用本文： | 吕红莉,张学军,杨森. 遗传性血管性水肿分子遗传学进展[J]. 国际皮肤性病学杂志, 2006, 32(5): 306-308 |
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| 作者姓名： | 吕红莉 张学军 杨森 |
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| 作者单位： | 230022,合肥,安徽医科大学皮肤病研究所、安徽医科大学第一附属医院皮肤科 |
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| 摘 要： | 遗传性血管性水肿是由C1酯酶抑制剂基因突变所致的一种罕见的常染色体显性遗传性疾病。临床表现为发作性、局限性皮肤或黏膜水肿。致病基因定位于11q11-q13.1,迄今共发现183个突变。近年来对C1酯酶抑制剂基因结构、C1酯酶抑制剂生物学功能、基因突变有了深入的认识,并构建了该病的动物模型。
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| 关 键 词： | 血管神经性水肿 C1INH 基因 突变 |
| 收稿时间： | 2006-01-09 |
| 修稿时间： | 2006-01-09 |
Molecular Genetics Progress of Hereditary Angioedema |
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| Lü Hong-li,ZHANG Xue-jun,YANG Sen. Molecular Genetics Progress of Hereditary Angioedema[J]. International Journal of Dermatology and Venereology, 2006, 32(5): 306-308 |
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| Authors: | Lü Hong-li ZHANG Xue-jun YANG Sen |
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| Abstract: | Hereditary angioedema is a rare autosomal dominant genodermatosis caused by C1 inhibitor (C1 INH) gene mutations. The clinical feature of the disease is episodic local edema of skin or mucous membrane. Its causative gene has been mapped to chromosome 11q11-q13.1, and 183 mutations have been found up to now. Recent years, there has been a deep understanding about the gene structure, biologic functions, and mutations of C1INH, and the mouse model of the disease has been built. |
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| Keywords: | Angioneurotic edema C1INH Gene Mutation |
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