A polymorphism in the repetitive (TGGA)n sequence 5' to the human myelin basic protein gene in Italian multiple sclerosis patients

Franca Rosa Guerini, Loredana Losciale, Monica Mediati, Livianna Speciale, Roberta Mancuso, Marina Saresella, Maria Gaetana Calvo, Domenico Caputo, Pasquale Ferrante

Research output: Contribution to journalArticle

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Abstract

Human myelin basic protein (hMBP) gene is one of the candidate genes in the complex mosaic of multiple sclerosis (MS) susceptibility. In this study we verified the distribution of the polymorphism of the region 5' flanking the first exon of the hMBP gene, in 97 relapsing remitting, 74 primary progressive Italian MS patients, and in 236 healthy controls, using polymerase chain reaction (PCR) and gel electrophoresis analysis in this region from 1116-1540 nt. Three different band patterns were observed: one homozygote with a 354 bp long fragment, one homozygote with 424 bp long fragment and one heterozygote with both bands present. The short fragment was statistically more frequent in RRMS patients than in HC (P <0.05). The long fragment was more present in HC. Similarly the short homozygous pattern (354 bp/354 bp) was significantly higher in the RRMS patients versus the healthy controls (P <0.01). The sequence analysis of the hMBP alleles showed that while the long fragments matched the prototype sequence completely, all the short fragments showed a deletion of 70 bp from nt 1177 to nt 1247, which explains the short 354 bp allele detected by PCR. Moreover two single mismatches in positions 1386 (T→C) and 1431 (G→A), were present only in the short hMBP fragment.

Original languageEnglish
JournalJournal of NeuroVirology
Volume6
Issue numberSUPPL. 2
Publication statusPublished - 2000

Fingerprint

Multiple Sclerosis
Homozygote
Genes
Alleles
Chronic Progressive Multiple Sclerosis
Polymerase Chain Reaction
5' Flanking Region
Heterozygote
Sequence Analysis
Electrophoresis
Exons
Gels
human MBP protein

Keywords

  • hMBP gene deletion
  • Human myelin basic protein (hMBP) gene polymorphism
  • Multiple sclerosis susceptibility

ASJC Scopus subject areas

  • Virology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Neurology

Cite this

A polymorphism in the repetitive (TGGA)n sequence 5' to the human myelin basic protein gene in Italian multiple sclerosis patients. / Guerini, Franca Rosa; Losciale, Loredana; Mediati, Monica; Speciale, Livianna; Mancuso, Roberta; Saresella, Marina; Calvo, Maria Gaetana; Caputo, Domenico; Ferrante, Pasquale.

In: Journal of NeuroVirology, Vol. 6, No. SUPPL. 2, 2000.

Research output: Contribution to journalArticle

Guerini, Franca Rosa ; Losciale, Loredana ; Mediati, Monica ; Speciale, Livianna ; Mancuso, Roberta ; Saresella, Marina ; Calvo, Maria Gaetana ; Caputo, Domenico ; Ferrante, Pasquale. / A polymorphism in the repetitive (TGGA)n sequence 5' to the human myelin basic protein gene in Italian multiple sclerosis patients. In: Journal of NeuroVirology. 2000 ; Vol. 6, No. SUPPL. 2.
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AU - Guerini, Franca Rosa

AU - Losciale, Loredana

AU - Mediati, Monica

AU - Speciale, Livianna

AU - Mancuso, Roberta

AU - Saresella, Marina

AU - Calvo, Maria Gaetana

AU - Caputo, Domenico

AU - Ferrante, Pasquale

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AB - Human myelin basic protein (hMBP) gene is one of the candidate genes in the complex mosaic of multiple sclerosis (MS) susceptibility. In this study we verified the distribution of the polymorphism of the region 5' flanking the first exon of the hMBP gene, in 97 relapsing remitting, 74 primary progressive Italian MS patients, and in 236 healthy controls, using polymerase chain reaction (PCR) and gel electrophoresis analysis in this region from 1116-1540 nt. Three different band patterns were observed: one homozygote with a 354 bp long fragment, one homozygote with 424 bp long fragment and one heterozygote with both bands present. The short fragment was statistically more frequent in RRMS patients than in HC (P <0.05). The long fragment was more present in HC. Similarly the short homozygous pattern (354 bp/354 bp) was significantly higher in the RRMS patients versus the healthy controls (P <0.01). The sequence analysis of the hMBP alleles showed that while the long fragments matched the prototype sequence completely, all the short fragments showed a deletion of 70 bp from nt 1177 to nt 1247, which explains the short 354 bp allele detected by PCR. Moreover two single mismatches in positions 1386 (T→C) and 1431 (G→A), were present only in the short hMBP fragment.

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