title: C7 deficiency in an Irish family: a deletion defect which is predominant in the Irish.
abstract: Human deficiencies of terminal complement components are known to be associated with increased susceptibility to Neisseria meningitidis infection. Polymorphic DNA marker studies in complement deficient investigations allow identification of haplotypes associated with the deficiency and enable the possible identification of heterozygote carriers of the defect. We report studies of an Irish family in which the index case had suffered recurrent meningococcal disease and was found to be deficient in the seventh component of complement (C7). The availability of all family members enabled us to determine the segregating haplotypes. The defects in the family segregated with two very closely related C6 and C7 DNA haplotypes, one of which is known to be associated with the large Irish C7 DNA deletion defect. The index case and two C7 deficient siblings were found to be homozygous for this defect, a deletion that spans approx. 6.8 kbp and encompasses exons 7 and 8. The deletion defect of exons 7 and 8 of C7 has been found in homozygous form in another C7 deficient Irish individual, and is present in heterozygous form in C7 deficient members of a third Irish family. Therefore, this deletion defect occurs in five of the six deficient chromosomes of these three unrelated Irish families, raising the interesting question of how prevalent this defect may be within the Irish community.
authors.affiliation: Department of Microbiology, National University of Ireland, Galway, Ireland.
authors.forename: A M
authors.initials: AM
authors.lastname: O'Hara
authors.forename: B A
authors.initials: BA
authors.lastname: Fernie
authors.forename: A P
authors.initials: AP
authors.lastname: Moran
authors.forename: Y E
authors.initials: YE
authors.lastname: Williams
authors.forename: J J
authors.initials: JJ
authors.lastname: Connaughton
authors.forename: A
authors.initials: A
authors.lastname: Orren
authors.forename: M J
authors.initials: MJ
authors.lastname: Hobart
mesh_terms: D015139:Blotting, Southern; D003183:Complement C6 / Q000235:genetics*; D003184:Complement C7 / Q000172:deficiency / Q000235:genetics* / Q000276:immunology; D005091:Exons; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007494:Ireland; D008297:Male; D008589:Meningococcal Infections / Q000235:genetics / Q000276:immunology; D009345:Neisseria meningitidis; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D003183:Complement C6; D003184:Complement C7; D005819:Genetic Markers