Characterization of a large genomic deletion in four Irish families with C7 deficiency.

doi:10.1016/j.molimm.2011.12.002

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Article

Characterization of a large genomic deletion in four Irish families with C7 deficiency.

Molecular immunology - 1 Feb 2012

Thomas A D, Orren A, Connaughton J, Feighery C, Morgan B P, Roberts A G

Abstract excerpt

Inherited deficiency of the seventh complement component (C7) is associated with increased susceptibility to Neisseria meningitidis infections. The disease is rare in most Western countries. Here we report new investigations of a large, but incompletely characterized genomic deletion of exons 8 and 9 [c.739-?_1093+?del], previously identified in three unrelated Irish families with C7 deficiency. We have analysed...

Topics

Alleles
Base Sequence
Blotting, Western
Complement C7
DNA Mutational Analysis
Exons
Family Health
Female
Genotype
Humans
INDEL Mutation
Ireland
Male
Pedigree
Polymerase Chain Reaction
Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 22206826
DOI: 10.1016/j.molimm.2011.12.002

Provenance

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