...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genetic testing and molecular biomarkers >MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever
【24h】

MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever

机译：MEFV埃及患者的基因突变家族性地中海热

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and serositis. The disease affects mainly Mediterranean populations and is caused by mutations in the MEFV gene. Aim: This work was carried out to identify and determine the frequencies of MEFV gene mutations in Egyptian patients in whom FMF was diagnosed. Methods: We investigated 316 patients with a clinical diagnosis of FMF for 12 MEFV mutations including the 5 most common known mutations M694V,V726A, M694I, M680I, and E148Q by allele-specific hybridization. Results: Mutations were detected in 182 (57.6%) patients: 20 were homozygous, 80 were compound heterozygous, and 82 had only one identifiable mutant allele. In patients with clinically definite FMF (n =112), no mutations were detected in 28 patients;whereas in patients with clinically unlikely FMF ( = 48), genetic analysis established the diagnosis in 6 patients. Overall, 10 mutations were detected in our patients. The most common were M694I (34%), E148Q (22.7%),V726A (15.6%), M680I (12.1%), and M694V (7.8%). M694V was observed in severe disease and in patients with amyloidosis. Conclusion: We were able to identify a wide spectrum of MEFV mutations in Egyptian patients in whom FMF was diagnosed. Frequencies of individual mutations showed some differences from those in other Mediterranean populations.
机译：家族性地中海热(FMF)是一种常染色体隐性障碍复发性的特征发烧和浆膜炎的袭击。影响主要是地中海人群和由MEFV基因的突变引起的。进行了识别和确定工作MEFV基因突变的频率埃及FMF的病人被诊断。方法:我们研究了316个病人临床诊断12 MEFV FMF的突变包括5个最常见的已知的突变M694V V726A, M694I、M680I E148Q:allele-specific杂交。182名(57.6%)患者中发现:20人吗复合杂合的纯合子,80,82只有一个可识别的突变等位基因。临床上患者明确FMF (n = 112),28个病人未发现突变,而临床上患者不太可能FMF (= 48),遗传分析建立了诊断6病人。我们的病人。E148Q(22 . 7%)、V726A (6%), M680I(12月15日。1%),和M694V(7.8%)。疾病和淀粉样变患者。结论:我们能够确定一个宽光谱MEFV突变的病人在埃及在FMF诊断的是谁。个体变异显示一些差异其他地中海人群。

著录项

相似文献

  • 外文文献
  • 中文文献
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号