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1.
Am J Med Genet ; 110(1): 25-9, 2002 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-12116267

RESUMO

Deficiencies of terminal complement components, particularly the latter ones, are often detected because of increased susceptibility to Neisserial infections. Herein we document the first report of C7 deficiency among a highly inbred Arab population living in the lower Galilee region of Israel. Both biochemical and molecular analysis were performed on samples from infected survivors and parents of children who succumbed to Neisserial infections in a 4-year period. Only the index case who suffered recurrent infections and a sibling who had not suffered an infection during the outbreak were found to be C7-deficient. The mutation was found to be the one previously described to be prevalent among Israeli Jews of Moroccan ancestry (mutation G1135C). The implications of this finding are discussed in the context of family pedigree, the protective effect of complement deficiency, and the clinical outcome.


Assuntos
Árabes/genética , Complemento C7/deficiência , Adolescente , Criança , Pré-Escolar , Complemento C7/genética , DNA/química , DNA/genética , Análise Mutacional de DNA , Saúde da Família , Feminino , Humanos , Lactente , Israel , Masculino , Mutação , Linhagem
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