伊朗西南部家族性地中海热患者的基因分析
Genetic Analysis of Southwestern Iranian Patients with Familial Mediterranean Fever.
作者信息
Haghighat Mahmoud, Moghtaderi Mozhgan, Farjadian Shirin
机构信息
Gastroenterohepatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.
Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
出版信息
Rep Biochem Mol Biol. 2017 Apr;5(2):117-120.
BACKGROUND
Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation.
METHODS
To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common gene mutations was tested.
RESULTS
The most frequent clinical presentations of the patients were fever, colicky abdominal pain and arthritis. Eighteen patients responded completely to colchicine therapy. gene mutations were detected in only 40% of the patients. The most common mutation was E148Q, detected in five patients (25%). The V726A, M694V and P369S mutations were each observed in one patient.
CONCLUSIONS
Although none of the 12 mutations we included in our test panel was detected in 60% of our patients, all of them had FMF symptoms and responded well to colchicine. full gene sequencing analysis in these patients may lead to finding new mutations in southwestern Iranian FMF patients which would be helpful in designing a local diagnostic kit.
背景
家族性地中海热（FMF）是一种常染色体隐性遗传病，其特征为自限性发热和浆膜组织炎症反复发作。
方法
为评估伊朗西南部FMF患者的临床症状和常见基因突变，根据临床标准招募了20名无亲缘关系的患者参与本研究。检测了一组12种常见基因突变。
结果
患者最常见的临床表现为发热、绞痛性腹痛和关节炎。18名患者对秋水仙碱治疗完全有反应。仅40%的患者检测到基因突变。最常见的突变是E148Q，在5名患者（25%）中检测到。V726A、M694V和P369S突变各在1名患者中观察到。
结论
尽管我们检测组中的12种突变在60%的患者中均未检测到，但所有患者均有FMF症状且对秋水仙碱反应良好。对这些患者进行全基因测序分析可能会发现伊朗西南部FMF患者的新突变，这将有助于设计本地诊断试剂盒。
Zotero 插件