Genomic mutations in the repetitive (TGGA)n sequence 5' to the human mbp gene in italian hla DR2+ multiple sclerosis patients

F. R. Guerim, L. Losciale, D. Caputo, P. Ferrante

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Abstract

We verified the possible involvement of an highly repetitive satellite sequence (TGGA)n polymorphism in a region of DNA 5' flanking the first exon of the Myelin Basic Protein (MBP) gene in Italian Multiple Sclerosis patients We performed PCR and gel electrophoresis analysis in this region from 1116 nt to 1540 nt in a group of 99 MS patients and 100 healthy controls Three different band patterns were observed: one homozygote with a 354bp long fragment, one homozygote with 424bp long fragment and one hétérozygote with both bands present The short fragment was found more frequently in MS patients (41%) than in controls (31%) with a p=0 05 while the long fragment was more present in healthy subjects Nucleotide sequence analysis of the two fragments showed a deletion of 70bp and two stable point mutations in the short fragment Comparing HLA profile and MBP polymorphism we observed a significantly more frequent association of HLA DR2 and the MBP 354bp allele (p

Original languageEnglish
Pages (from-to)61
Number of pages1
JournalItalian Journal of Neurological Sciences
Volume18
Issue number4
Publication statusPublished - 1997

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ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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