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HLA complement gene polymorphisms in multiple sclerosis

A study on 80 Italian patients

Abstract

We studied C4A, C4B, and Bf complement gene polymorphisms in 80 Italian patients with multiple sclerosis (MS). We observed a significantly higher frequency of C4AQ0 allele in patients with the relapsing-remitting form of MS than in ethnically homogeneous controls. Restriction fragment length polymorphism analysis by Southern blotting of the C4/CYP21 gene complex showed that a structural gene deletion was present in 45% of patients with the C4AQ0 allele. Our data support the hypothesis that relapsing-remitting MS and primarily chronic progressive MS are immunogenetically distinct diseases; further, complement factor abnormalities typical of autoimmune diseases could influence the pathogenesis of MS.

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Correspondence to Diego Franciotta.

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Franciotta, D., Dondi, E., Bergamaschi, R. et al. HLA complement gene polymorphisms in multiple sclerosis. J Neurol 242, 64–68 (1995). https://doi.org/10.1007/BF00887817

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Key words

  • Multiple sclerosis Restriction fragment length polymorphisms
  • HLA class III genes
  • Complement component 4