Identification of a C → T Mutation in the Reactive‐Site Coding Region of the C1‐Inhibitor Gene and its Detection by an Improved Mutation‐Specific Polymerase Chain Reaction Method
Mutations in the C1‐inhibitor (C1‐INH) gene, leading to low functional levels of C1‐inhibitor protein, cause hereditary angioedema (HAE). The disease is characterized by episodic edema in a number of organs. Typically, swellings occur in extremities and face, often accompanied by crampy abdominal pa...
| Published in: | Scandinavian Journal of Immunology |
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| Main Authors: | , , , |
| Format: | Article in Journal/Newspaper |
| Language: | English |
| Published: |
Wiley
1998
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| Subjects: | |
| Online Access: | http://dx.doi.org/10.1046/j.1365-3083.1998.00290.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-3083.1998.00290.x https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1365-3083.1998.00290.x |
| Summary: | Mutations in the C1‐inhibitor (C1‐INH) gene, leading to low functional levels of C1‐inhibitor protein, cause hereditary angioedema (HAE). The disease is characterized by episodic edema in a number of organs. Typically, swellings occur in extremities and face, often accompanied by crampy abdominal pain. Laryngeal edema may lead to suffocation. Type II HAE patients have low functional C1‐INH values stemming from only one normal allele. Antigenic C1‐INH values, however, are normal or increased owing to the presence of a dysfunctional protein from the mutated allele. The mutations are usually found in exon 8 coding for the amino acids near the reactive centre (P1). Previously, no mutations in the C1‐INH gene had been published from the Scandinavian countries. In this work, exon 8 of the C1‐inhibitor gene was sequenced in members of two different kindreds, from western and northern Norway, who were suffering from HAE type II. A common point mutation was found within the bait region encoding the reactive centre. The codon CGC was converted to TGC at position 17 970, corresponding to an Arg → Cys replacement which reportedly is the second most frequent type II HAE mutation. This information was utilized to develop a mutation‐specific polymerase chain reaction (PCR) for the identification of affected family members. The antisense 17‐mer primer (5′‐AAGACCAGCAGGGTGCA‐3′) was successfully applied and AmpliTaq Gold was used in the PCR. |
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