%0 Journal Article
%T IL-7R ¦Á polymorphisms in 60 Iranian multiple sclerosis patients
%A Mojgan Ahmadzadeh Raji
%A Alireza Khosravi
%A Mohammad Hossein Sanati
%A Seyed Massood Nabavi
%J Iranian Journal of Neurology
%D 2012
%I Tehran University of Medical Sciences
%X Background: Multiple sclerosis (MS), a chronic inflammatory demyelinating disorder with neurodegenerative aspects, is more common among young adults, particularly women.Methods: This molecular study was designed to investigate the IL-7R ¦Á chain gene in Iranian MS patients. We studied 60MS patients, diagnosed based on 2005 R-McDonald criteriaand 60 apparently healthy individuals as the control group.DNA was extracted from whole blood cells using MBST/IRANExtraction kit and all samples were screened for possiblesequence variation in three regions including promoter,exon 2 and exon 4 with single strand conformationpolymorphism (SSCP).Results: The alterations were confirmed with directsequencing by ABI 3730XL. Although no mutation wasdetected in the studied regions, eight single nucleotidepolymorphisms (SNPs) consisting of rs71617734 inpromoter; rs35967524, rs11567704, rs1494558,rs11567705 and rs969128 in exon 2 as well as rs1494555and rs2228141 in exon 4 were observed. The rs1494558in exon 2 and rs1494555 in exon 4 were missensevariations. Our results also showed the substitution ofisoleucine with threonine in rs1494558 (P.I66T) with thisaccession number, FR863587 submitted in EMBL bank.The study of exon4 areas revealed two SNPs and twosequence variations, where [p.V138I] Valine substitutedwith isoleucine (FR863588), as well as a silent nucleotidesubstitution [P. H165H] in the absence of amino acidalteration. The analysis of the SNP genotype in thecontrols and the patients, using ¦Ö2 showed no significantassociation with multiple sclerosis in this group.Conclusion: Our study demonstrated the effects ofsome SNPs on the IL-7R ¦Á protein in MS. Further studiesare required to reveal the effects of these SNPs on the IL-7R ¦Á protein in multiple sclerosis.
%K IL-7R ¦Á
%K Polymorphism
%K SNPs
%K SSCP
%K Sequencing
%K Multiple
%U http://ijnl.tums.ac.ir/index.php/ijnl/article/view/85