伊朗2型糖尿病患者Ficolin-3 (FCN3) 1637delC (rs28357092)移码突变的评价

Shaghayegh Pishkhan Dibazar, A. Zavaran Hosseini, F. Yari, S. Fateh, Mohammad Reza Deyhim
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摘要

背景与目的:纤维蛋白是一种与碳水化合物结合的蛋白质,具有调节素的作用,在先天免疫中起重要作用。ficolin-3基因(FCN3)多态性可导致补体缺乏,增加糖尿病等疾病的风险。本研究的目的是调查FCN3 + 1637delC作为该基因的单核苷酸多态性(SNP)在伊朗健康和糖尿病受试者中的频率。材料与方法:36例糖尿病患者和37例健康受试者均向伊朗输血组织求诊。用量热法分析血糖。用盐析法提取DNA后,进行聚合酶链反应(PCR),用ApaI限制性内切酶完成限制性片段长度多态性(RFLP)测定。因此,所得片段用2% l -琼脂糖凝胶电泳进行评价。结果:对结果的评估表明,在健康受试者的3个样本(8.1%)和糖尿病患者的2个样本(5.6%)中发现了SNP FCN3 + 1637delC的杂合子形式。此外,该突变的纯合子形式在研究的健康和糖尿病受试者中未见。结论:本研究结果显示,FCN3变异SNP FCN3 + 1637delC不被认为是伊朗受试者2型糖尿病(T2DM)的危险因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluation of Ficolin-3 (FCN3) 1637delC (rs28357092) Frameshift Mutation in Iranian Type 2 Diabetic Subjects
Background and Aims: Ficolins are proteins that bind to carbohydrates, act as opsonins and play an important role in innate immunity. Polymorphism in ficolin-3 gene (FCN3) can lead to complement deficiency and increase the risk of some disorders such as diabetes. The aim of this study was to investigate the frequency of FCN3 + 1637delC as a single nucleotide polymorphism (SNP) in this gene in healthy and diabetic subjects of Iran. Materials and Methods: Blood was taken from 36 diabetics and 37 healthy subjects who had referred to the Iranian Blood Transfusion Organization. Blood sugar was analyzed using a calorimetric method. After DNA extraction using salting out method, polymerase chain reaction (PCR) was carried out and the restriction fragment length polymorphism (RFLP) method was accomplished using ApaI restriction enzyme. Consequently, the resulted fragments were evaluated using electrophoresis on 2% L-agarose gel. Results: Evaluation of the results indicated that the heterozygote form of SNP FCN3 + 1637delC was seen in three samples (8.1%) of the studied healthy subjects and in two samples (5.6%) of the diabetic individuals. Besides, the homozygous form of the mutation was not seen in the studied healthy and diabetic subjects. Conclusion: Results of this study showed that FCN3 variant of SNP FCN3 + 1637delC was not considered as a risk factor for type 2 diabetes mellitus (T2DM) in Iranian subjects.
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