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在丹麦人中,人类髓鞘碱性蛋白基因5'端的一段重复DNA序列可能与多发性硬化症有关。

A repetitive DNA sequence 5' to the human myelin basic protein gene may be linked to MS in Danes.

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

Acta Neurol Scand. 1996 Apr;93(4):236-40. doi: 10.1111/j.1600-0404.1996.tb00513.x.

Abstract

The myelin basic protein (MBP) gene is a candidate locus for disease susceptibility in multiple sclerosis (MS). In the present study a part of the tetranucleotide (TGGA)n repeat polymorphism 5' to the MBP gene was examined in 90 Danish MS patients and 106 controls. Lymphocyte DNA was isolated and used in PCR assay. The PCR fragments produced were separated by agarose and acrylamide electrophoresis. Hereby we found three different bandpatterns i.e. a homozygote with a 450 bp fragment, a homozygote with a fragment 375 bp and a heterozygote with both bands present. The 450 bp fragment occurred significantly more often among MS than in the control group and the 375 bp fragment was underrepresented among MS than in the control group. The differences between incidence of the three band pattern in the MS and the control group were significant different at 1% level. Our study thus indicate that there is an association between MS and a length polymorphism of the 5' end to the MBP gene in Danish MS patients.

摘要

髓鞘碱性蛋白(MBP)基因是多发性硬化症(MS)疾病易感性的候选基因座。在本研究中,对90例丹麦MS患者和106名对照者检测了MBP基因5'端四核苷酸(TGGA)n重复多态性的一部分。分离淋巴细胞DNA并用于PCR分析。产生的PCR片段通过琼脂糖和丙烯酰胺电泳分离。由此我们发现了三种不同的条带模式,即具有450 bp片段的纯合子、具有375 bp片段的纯合子以及同时存在两条带的杂合子。450 bp片段在MS患者中出现的频率显著高于对照组,而375 bp片段在MS患者中的比例低于对照组。MS组和对照组中三种条带模式发生率之间的差异在1%水平上显著不同。因此,我们的研究表明丹麦MS患者中MS与MBP基因5'端的长度多态性之间存在关联。

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