Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Characterization of a large genomic deletion in four Irish families with C7 deficiency
Molecular Immunology, Volume 50, No. 1-2, Year 2012
Notification
URL copied to clipboard!
Description
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 DNA from one individual, who is homozygous for the deletion, by PCR using primers progressively proximal to the deleted exons. Thus we were able to map the deletion boundaries. Amplification across the breakpoint and sequencing revealed an indel mutation that included a 6.4. kb deletion together with an insertion of a novel 8. bp sequence [c.739+1262_1270-2387delinsGCAGGCCA]. We demonstrated the same defect in the C7 deficient patients from each family and developed a duplex PCR method to enable the detection of alleles containing the deletion in heterozygotes. A member of a fourth family was found to be homozygous for the deletion defect. Thus, the deletion defect may be a more commonly distributed cause of C7 deficiency in Ireland. © 2011.
Authors & Co-Authors
Thomas, Andrew D.
United Kingdom, Cardiff
Cardiff University
Orren, Ann
United Kingdom, Cardiff
Cardiff University
South Africa, Cape Town
University of Cape Town
Connaughton, J.
Ireland, Port Laoise
Midland Regional Hospital at Port Laoise
Feighery, Conleth F.
Ireland, Dublin
Trinity College Dublin
Morgan, B. P.
United Kingdom, Cardiff
Cardiff University
Roberts, Andrew
United Kingdom, Cardiff
Cardiff University
Statistics
Citations: 8
Authors: 6
Affiliations: 4
Identifiers
Doi:
10.1016/j.molimm.2011.12.002
e-ISSN:
18729142
Research Areas
Cancer
Genetics And Genomics