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多发性硬化症患者肿瘤坏死因子受体1基因中的遗传变异

Genetic variants in the tumor necrosis factor receptor 1 gene in patients with MS.

作者信息

Weinshenker B G, Hebrink D, Wingerchuk D M, Klein C J, Atkinson E, O'Brien P C, McMurray C T

机构信息

Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA.

出版信息

Neurology. 1999 Apr 22;52(7):1500-3. doi: 10.1212/wnl.52.7.1500.

Abstract

We scanned for all genetic variants in functionally important regions of the tumor necrosis factor receptor 1 gene (TNF-R1) in 100 to 111 MS patients from Olmsted County, MN, and analyzed selected variants for an association with disease course and severity. Ten genetic variants were uncovered. Only one variant, a silent substitution, was found in coding sequence. One intronic variant may generate a novel splice-junction sequence. We did not find an association between either this intronic variant or another common promoter variant and the course or severity of MS.

摘要

我们对明尼苏达州奥尔姆斯特德县100至111例多发性硬化症(MS)患者的肿瘤坏死因子受体1基因(TNF-R1)功能重要区域的所有基因变异进行了扫描,并分析了选定变异与疾病进程和严重程度的关联。发现了10种基因变异。在编码序列中仅发现一种变异,即沉默替代。一种内含子变异可能产生新的剪接连接序列。我们未发现这种内含子变异或另一种常见启动子变异与MS的病程或严重程度之间存在关联。

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