色素失禁症一家系NEMO基因突变检测

Mutation analysis of NEMO gene in a pedigree with incontinentia pigmenti

目的:检测中国汉族色素失禁症一家系NEMO基因突变。方法:收集该家系内2例患者及1名正常人外周静脉血和临床资料,提取家系及100名健康对照全基因组DNA,针对NEMO基因外显子区及其侧翼序列设计引物,PCR产物扩增后进行Sanger测序,同时MLPA检测该基因是否存在大片段缺失。结果:该家系2例患者均检测出NEMO基因第5号外显子存在一移码突变c.723_c.724insCAGG,但该家系正常人和100名健康对照个体均未检出此突变。家系内三位被检测者均不存在NEMO基因大片段缺失。结论:该色素失禁症家系内NEMO基因c.723_c.724insCAGG突变可能是其发病的原因。

Objective: To detect the mutation of NEMO gene in a Chinese Han predigree with incontinentia pigmenti(IP). Methods: The data of the predigree, including 2 patients and 1 normal, was collected and DNA was extracted from peripheral blood of the predigree and 100 healthy controls. DNA was amplified and the mutation was detected by sanger sequencing of the exons regions and flanking introns of NEMO gene. The presence of large fragment deletion in this gene was detected by MLPA. Results: A novel frameshift mutation, c.723_c.724-insCAGG in exon 5 was found in NEMO gene in two patients, which was not detected in the normal family member, as well as 100 healthy blood samples. Conclusion: The mutation of c.723_c.724 insCAGG in NEMO gene may be involved in the occurrence of incontinentia pigmenti in this pedigree.