Nome dell'autore in nota nell'articolo. Abstract: The myelin-associated glycoprotein (MAG) gene is an appealing candidate in the 19q13 Multiple Sclerosis (MS) candidate region. Using denaturing high performance liquid chromatography (DHPLC), we identified 14 single nucleotide polymorphisms (SNPs) in MAG coding and regulatory regions, and we tested their possible association with MS in Italian patient and control DNA pools. Eight variations had a frequency <0.05, i.e. below the detection limit in the pools. Of these, Arg537Cys was further studied with individually genotyped individuals and was detected in 1/189 patients and 0/85 controls. The frequency of the six remaining SNPs were not significantly different in pools including a total of 1266 patient and 1612 control chromosomes. Considering the statistical power of the experimental design, these results exclude the MAG gene as an MS susceptibility factor with an odds ratio (OR) equal or higher than 1.3.

Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene (MAG) and study of their association with multiple sclerosis / D'ALFONSO S; MELLAI M; GIORDANO M; PASTORE A; MALFERRARI G; NALDI P; REPICE A; LIGUORI M; CANNONI S; MILANESE C; CAPUTO D; SAVETTIERI G; MOMIGLIANO-RICHIARDI P; THE ITALIAN GROUP FOR THE STUDY OF MULTIPLE SCLEROSIS GENETICS; MASSACESI L;. - In: JOURNAL OF NEUROIMMUNOLOGY. - ISSN 0165-5728. - ELETTRONICO. - 126:(2002), pp. 196-204. [10.1016/S0165-5728(02)00061-9]

Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene (MAG) and study of their association with multiple sclerosis.

REPICE, ANNA MARIA RITA;MASSACESI, LUCA
2002

Abstract

Nome dell'autore in nota nell'articolo. Abstract: The myelin-associated glycoprotein (MAG) gene is an appealing candidate in the 19q13 Multiple Sclerosis (MS) candidate region. Using denaturing high performance liquid chromatography (DHPLC), we identified 14 single nucleotide polymorphisms (SNPs) in MAG coding and regulatory regions, and we tested their possible association with MS in Italian patient and control DNA pools. Eight variations had a frequency <0.05, i.e. below the detection limit in the pools. Of these, Arg537Cys was further studied with individually genotyped individuals and was detected in 1/189 patients and 0/85 controls. The frequency of the six remaining SNPs were not significantly different in pools including a total of 1266 patient and 1612 control chromosomes. Considering the statistical power of the experimental design, these results exclude the MAG gene as an MS susceptibility factor with an odds ratio (OR) equal or higher than 1.3.
2002
126
196
204
D'ALFONSO S; MELLAI M; GIORDANO M; PASTORE A; MALFERRARI G; NALDI P; REPICE A; LIGUORI M; CANNONI S; MILANESE C; CAPUTO D; SAVETTIERI G; MOMIGLIANO-RICHIARDI P; THE ITALIAN GROUP FOR THE STUDY OF MULTIPLE SCLEROSIS GENETICS; MASSACESI L;
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/254557
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