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多发性硬化症的遗传易感性可能与髓鞘碱性蛋白基因的多态性有关。

Genetic susceptibility to multiple sclerosis may be linked to polymorphism of the myelin basic protein gene.

作者信息

Ibsen S N, Clausen J

机构信息

Department for Life Sciences and Chemistry, Roskilde University, Denmark.

出版信息

J Neurol Sci. 1995 Jul;131(1):96-8. doi: 10.1016/0022-510x(95)00088-j.

Abstract

The present paper compares the genetic polymorphism of a part of the myelin basic protein (MBP) gene in 64 Danish MS patients with that of 57 normal controls. PCR analysis, using primers flanking the 5' area from 479 to 1812 bp upstream the initiator methionine in the MBP gene, revealed that genetic susceptibility to MS is linked to polymorphism in the part of the MBP gene studied. Thus we found three different band patterns i.e. a homozygote with a 1445 bp long fragment, a homozygote with a fragment 1318 bp long and a heterozygote with both bands present. 59% of 64 patients with MS were homozygous for 1.445 kb allele, versus 40% of 57 control subjects, 18% of the control subjects were homozygous for the 1.318 kb, while only 0.7% of the MS patients possessed this allele. The differences between incidence of the three band pattern in the MS and the control group were significant at 1% level. Validation analysis furthermore support, the view that the 1445 bp PCR fragment is associated with MS.

摘要

本文比较了64名丹麦多发性硬化症(MS)患者与57名正常对照者髓鞘碱性蛋白(MBP)基因部分区域的基因多态性。使用位于MBP基因起始甲硫氨酸上游479至1812 bp处5'区域两侧的引物进行PCR分析,结果显示MS的遗传易感性与所研究的MBP基因部分区域的多态性有关。因此,我们发现了三种不同的条带模式,即一个具有1445 bp长片段的纯合子、一个具有1318 bp长片段的纯合子以及一个同时存在两条带的杂合子。64名MS患者中有59%为1.445 kb等位基因的纯合子,而57名对照者中这一比例为40%;18%的对照者为1.318 kb的纯合子,而只有0.7%的MS患者拥有该等位基因。MS组和对照组中三种条带模式的发生率差异在1%水平上具有显著性。进一步的验证分析支持了1445 bp PCR片段与MS相关的观点。

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