首页> 外文期刊>Genetic testing and molecular biomarkers >Identification of Deletion Carriers in X-Linked Chronic Granulomatous Disease by Real-Time PCR
【24h】

Identification of Deletion Carriers in X-Linked Chronic Granulomatous Disease by Real-Time PCR

机译:确定删除在x连锁运营商慢性肉芽肿疾病的实时PCR

获取原文
获取原文并翻译 | 示例
           

摘要

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency affecting the innate immune system. Even if functional tests address the diagnosis of CGD, the identification of a molecular defect is essential for counselling family members at risk for being CGD carriers and for prenatal diagnosis. The X-linked form occurs in 65°/o of CGD patients. It is due to mutations in the CYBB gene, up to 12% of which are caused by large deletions. CGD carriers are usually healthy, and molecular analysis is essential to reveal their carrier status. The aim of this study was to apply a gene dosage approach, using SYBR green quantitative real-time polymerase chain reaction (RT-PCR), to quantify the genomic copy number in carriers and noncarriers of gross deletions covering the region of the CYBB gene. We studied the expression of two different amplification products of the CYBB gene, and the results confirmed a highly reduced expression of the gene in the carrier samples. The results were confirmed by linkage analysis and fluorescence in situ hybridization. Quantitative real-time PCR is fast and simple to perform, and we propose it as a new routine diagnostic approach to detect CGD carriers of deletions covering the region spanning the CYBB gene.
机译:慢性肉芽肿性疾病(CGD)是一种罕见的主要影响先天免疫缺陷免疫系统。这份报告的诊断,识别分子缺陷对咨询至关重要CGD运营商和家庭成员的风险产前诊断。在65°/ o CGD患者。CYBB基因,12%是造成的由大型删除。健康,和分子分析是至关重要的显示运营商的地位。研究是应用基因剂量的方法,使用SYBR绿色定量实时聚合酶连锁反应(rt - pcr),量化基因组在总值的携带者和非拷贝数删除覆盖的区域CYBB基因。我们研究了两种不同的表达放大产品CYBB基因,结果证实了一个高度的表达式载体的基因样本。证实了链接分析和荧光原位杂交。快速和简单的执行,我们提出它一个新的检测CGD常规诊断方法删除覆盖地区的航空公司生成CYBB基因。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
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