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Literature DB >> 10072638

Reference typing report for complement components C6, C7 and C9 including mutations leading to deficiencies.

R Würzner¹, K Witzel-Schlömp, K Tokunaga, B A Fernie, M J Hobart, A Orren.

Abstract

The results of the present (VIIth Complement Genetics Workshop and Conference, Mainz, May 1998) and past reference typing workshops for the terminal complement components C6, C7 and C9 are compiled and discussed both on the protein level and on the DNA level. This report also focuses on the molecular bases of expressed and silent polymorphisms and reviews the molecular bases of subtotal and complete deficiencies of these proteins and their associations with protein and DNA markers. The results of the protein typing for C6 are published in the following paper of this issue.

Entities: Disease

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Year: 1998 PMID： 10072638 DOI： 10.1159/000019082

Source DB: PubMed Journal: Exp Clin Immunogenet ISSN： 0254-9670

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Cited

8 in total

Review 1. Molecular mechanisms of complement component C6 deficiency; a hypervariable exon 6 region responsible for three of six reported defects.

Authors: A Orren
Journal: Clin Exp Immunol Date: 2000-02 Impact factor: 4.330

Review 2. Deficiencies of the complement MAC II gene cluster (C6, C7, C9): is subtotal C6 deficiency of particular evolutionary benefit?

Authors: R Würzner
Journal: Clin Exp Immunol Date: 2003-08 Impact factor: 4.330

Reference typing report for complement components C6, C7 and C9 including mutations leading to deficiencies.

Review 1. Molecular mechanisms of complement component C6 deficiency; a hypervariable exon 6 region responsible for three of six reported defects.

Review 2. Deficiencies of the complement MAC II gene cluster (C6, C7, C9): is subtotal C6 deficiency of particular evolutionary benefit?

3. High prevalence of complement component C6 deficiency among African-Americans in the south-eastern USA.

4. Molecular defects of the C7 gene in two patients with complement C7 deficiency.

Review 5. Infections of people with complement deficiencies and patients who have undergone splenectomy.

6. Complement component C7 deficiency in two Spanish families.

7. Complement component C7 deficiency in a Spanish family.

8. Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency.