• 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 >Cystic Fibrosis Transmembrane Conductance Regulator Mutation Spectrum in Patients with Cystic Fibrosis in Tunisia
【24h】

Cystic Fibrosis Transmembrane Conductance Regulator Mutation Spectrum in Patients with Cystic Fibrosis in Tunisia

机译：囊性纤维化跨膜电导监管机构患者的突变谱囊性纤维化在突尼斯

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

Aim: To determine the frequency and types of mutations causing cystic fibrosis (CF) in Tunisia. Methods: We analyzed the complete coding region and flanking intronic sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 68 unrelated patients suffering from the classical form of the disease. Results: Twelve different CFTR mutations accounted for 90% (123/136) of CF alleles, including F508de1 (47.06%), E1104X (16.18%), N1303K (6.62%), 711 + 1T > G (5.88%), W1282X (4.41%), G542X (3.67%), R1158X (1.47%), 4016insT (0.74%), and R785X (0.74%). Three novel mutations were detected in this study: 11203V (1.47%), 1811 + 5A > G (0.74%), and 4268 + 2T > G (1.47%). Fifty patients (74%) were homozygous, among which 28 (41.17%) for F508de1 and 10 (14.7%) for E1104X. Conclusions: Ninety-seven percent of patients were found with at least one CFTR mutation. This study contributes to a better knowledge on CF-causing mutations in different regions in Tunisia and demonstrates that a complete scanning of CFTR sequences is necessary to implement efficient programs for CF genetic screening and counseling in this part of North Africa.
机译：目的:确定的频率和类型突变导致囊性纤维化(CF)突尼斯。地区和侧翼intronic序列的囊性纤维化跨膜电导监管机构(雌性生殖道)基因在68年病人无关患有疾病的古典形式。结果:十二个不同的雌性生殖道突变CF等位基因占90% (123/136),N1303K(62%)、711 + 6。5 - > G (88%), W1282X(41%)、G542X(3 . 67%)、R1158X (47%), 4016insT(0.74%)和R785X(0.74%)。在这项研究中发现了:11203 v(1.47%), 1811年+ 5 > G(0.74%),和4268 + 2 t > G(1.47%)。纯合子的50例(74%),其中F508de1 28例(41.17%),10例(14.7%)E1104X。患者被发现至少一个雌性生殖道突变。知识CF-causing突变不同在突尼斯和表明,一个地区雌性生殖道的完整扫描序列是必要的实现高效的CF基因程序筛选和咨询在这个北方的一部分非洲。

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