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A Point Mutation in the Cl-inhibitor Gene Causes Type I Hereditary Angiooedema

 

作者: Z. Siddique,   A.R. McPhaden,   J.E. Fothergill,   K. Whaley,  

 

期刊: Human Heredity  （Karger Available online 1993）
卷期: Volume 43, issue 3  

页码: 155-158

 

ISSN:0001-5652

 

年代: 1993

 

DOI:10.1159/000154171

 

出版商: S. Karger AG

 

关键词: C1-inhibitor deficiency;Gene mutation;Hereditary angiooedema

 

数据来源: Karger

 

摘要:

The polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (CAG → TAG) at nucleotide 16842 in the C1-inhibitor gene in the affected members of a single family with type I C1-inhibitor deficiency. This mutation creates the TAG translation termination codon, thereby truncating the C1-inhibitor C-terminus by 17 amino acids. The effects of the mutation are discusse

 

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