伊拉克患者样本中与家族性腕管综合征相关的转甲状腺素蛋白基因突变

Transthyretin Gene Mutation Associated with Familial Carpal Tunnel Syndrome in Sample of Iraqi Patients.

作者信息

Al-Mudhafar Rihab H, Ajeena Ihsan M, Al-Awadi Iman J, Al-Mudhafar Dhefaf H, Hadi Najah R

机构信息

Middle Euphrates Unit for Cancer Researches, Faculty of Medicine, University of Kufa, College of Medicine, Al-Najaf Al-Ashraf, Kufa, Iraq.

Clinical Neurophysiology, Department. of Physiology, Faculty of Medicine, University of Kufa, Iraq.

出版信息

Acta Inform Med. 2021 Jun;29(2):99-103. doi: 10.5455/aim.2021.29.99-103.

DOI:10.5455/aim.2021.29.99-103

PMID:34584331

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8443137/

Abstract

BACKGROUND

Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy in upper limbs. It affects women more frequently than men. CTS can be caused by many different systemic diseases and local mechanical conditions and it had signs and symptoms due to compression of median nerve at the carpal tunnel in wrist.

OBJECTIVE

The present study aims to study whether Transthyretin (TTR) gene polymorphisms have association with the development of FCTS.

METHODS

Sixty-four patients suffering from CTS were enrolled in this controlled cross sectional study. For all, nerve conduction study was performed to prove the diagnosis of CTS and to classify its severity. The mean age of all patients was 44.9±7.8 years, 89.1 % were female, 37.5 % had mild type CTS and 40.7 % had right side CTS. 3 mL of peripheral blood was collected from all patients which is a labeled (EDTA) tube at -20 C° for DNA extraction to identify a particular SNP (rs28933979; 148G/A; V50M) that locates at position chr18:31592974 on the exon-2 region which is reported to be associated to the Carpal Tunnel Syndrome. Exon-2 of TTR gene was amplified using the PCR technique and subjected to be tested for presence of SNP by Restriction Fragment Length Polymorphism (RFLP) assay.

RESULTS AND CONCLUSION

According to genetic variation, the study cannot discover any TTR gene polymorphism that back to FCTS.

摘要

背景

腕管综合征（CTS）是上肢最常见的卡压性神经病。女性比男性更易受其影响。CTS可由多种不同的全身性疾病和局部机械性因素引起，其体征和症状是由于正中神经在腕部腕管处受压所致。

目的

本研究旨在探讨转甲状腺素蛋白（TTR）基因多态性与特发性CTS的发生是否有关联。

方法

本对照横断面研究纳入了64例CTS患者。对所有患者均进行神经传导研究，以证实CTS的诊断并对其严重程度进行分级。所有患者的平均年龄为44.9±7.8岁，89.1%为女性，37.5%患有轻度CTS，40.7%为右侧CTS。从所有患者中采集3 mL外周血，置于-20℃的标记（乙二胺四乙酸）管中用于DNA提取，以鉴定位于18号染色体：31592974位置外显子2区域的一个特定单核苷酸多态性（SNP，rs28933979；148G/A；V50M），该SNP据报道与腕管综合征有关。使用聚合酶链反应（PCR）技术扩增TTR基因的外显子2，并通过限制性片段长度多态性（RFLP）分析检测SNP的存在情况。