论文部分内容阅读
目的报告及分析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。
Objective To report and analyze the detection of △ GT mutation in NCF1 gene in a case of autosomal recessive granulomatosis (CGD). Methods One CGD patient admitted to Beijing Children ’s Hospital in April 2009 was used to extract genomic DNA from EDTA anticoagulant by conventional methods. Primers were designed to amplify the second exon of NCF1 gene and the products were directly sequenced . Results The homozygous GT deletion (△ GT) of the GTGT repeat at the start of exon 2 of NCF1 gene was detected and the diagnosis was confirmed as A470CGD. Conclusions For children with clinical suspicion and functional diagnosis of CGD, attention should be paid to the detection of △ GT mutation in NCF1 gene. Clear gene diagnosis is an important tool for genetic counseling and prenatal diagnosis.