Abstract:

Abstract：Objective　To report and analyze the course of detection of △GT mutation of NCF1 in one case with autosomal recessive chronic granulomatous disease. Methods　We evaluated hotspot △GT of NCF1 in one child with CGD who was admitted to Beijing Children's Hospital in Apr. 2009. Results　We identified homogenous GT deletions in the start of exon 2 of NCF1. Conclusion　Detection of △GT mutation of NCF1 must be emphasized in autosomal recessive CGD cases.

Key words: autosomal recessive chronic granulomatous disease, NCF1, △GT mutation, children

摘要：

报告及分析1例常染色体隐性慢性肉芽肿病（CGD）NCF1基因热点△GT突变的检测过程。方法　对2009年4月北京儿童医院收治的1例CGD患儿，用常规方法对其从EDTA抗凝血中提取基因组DNA，设计引物，扩增NCF1基因第2外显子序列，对产物直接测序。结果　检测到NCF1基因第2外显子起始部位GTGT重复序列的纯合GT缺失（△GT），明确诊断为A470CGD。结论　对于临床怀疑及经功能诊断为CGD的患儿，应重视NCF1基因热点△GT突变的检测，明确的基因诊断是开展遗传咨询和产前诊断的重要工具。

关键词: 常染色体隐性慢性肉芽肿病, NCF1基因, △GT突变, 儿童