IL7RA基因外显子7序列鉴定伊朗患者多发性硬化易感性的两个新变体

A. Sattari, A. Movafagh, Nahid Beladi Moghadam, Negar Modirzade-Bami, Seyyed Mojtaba Mohaddes-Ardabili, A. Sayad
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引用次数: 0

摘要

多发性硬化症(MS)是一种慢性炎症性脱髓鞘疾病与神经退行性影响。它通常见于年轻人和女性。本研究的目的是研究IL7RA基因外显子7和侧翼内含子区域在MS患者与健康对照的比较。在这项病例对照研究中,研究了100名处于复发缓解期的MS患者和87名健康个体。采用盐析法从全血细胞中提取DNA。样品通过直接测序筛选外显子7和侧翼内含子区域的变异。外显子7未发现突变,但对39个单核苷酸多态性(snp)进行了研究。此外,我们在人群中发现了两个与多发性硬化症显著相关的变异。我们的研究表明,伊朗多发性硬化症人群外显子7没有明显的变异,但我们在侧翼区域发现了与多发性硬化症相关的2个变异,需要进一步的研究来确定这些snp对多发性硬化症中IL7R蛋白的影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Exon 7 Sequences of IL7RA Gene Identify Two New Variants with Susceptibility to Multiple Sclerosis in Iranian Patients
Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder with neurodegenerative effects. It is usually seen among young adults and women. The aim of the present investigation was the study of IL7RA gene exon 7 and flanking intronic regions in MS patients compared with healthy control. In this case-control study, 100 MS patients in RelapsingRemitting phase and 87 healthy individuals were studied. DNA was extracted from whole blood cells, using Salting-out method. Samples were screened for variations in exon 7 and flanking intronic regions by direct sequencing. No mutation was found in the exon7, however 39 single nucleotide polymorphisms (SNPs) were investigated. In addition, we found 2 variations that were significantly associated with MS in our population. Our study demonstrated no significant variation in Iranian MS population in exon 7 but we found 2 variations in flanking regions which were associated with MS. Further studies are required to define the effects of these SNPs on the IL7R protein in multiple sclerosis.
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