色素失禁症患者一家系NEMO基因序列检测分析

Detection and Analysis of NEMO Sequence in a Family of Incontinentia Pigmenti

目的用跨越断裂点PCR方法对色素失禁症患者一家系的NEMO基因序列进行检测分析。方法收集该色素失禁症患者一家系成员的临床症状及家族史,并提取其外周血DNA,运用跨越断裂点的PCR方法分别扩增NEMO基因及ΔNEMO假基因序列,通过琼脂糖凝胶电泳和测序对上述基因序列进行检测分析,同时对1例与该家系无血缘且身体健康的对照者进行同样检测分析。结果琼脂糖凝胶电泳及测序结果显示,2.5岁先证者及其母亲、外祖母均存在NEMO基因外显子4-10特异性缺失,其他家系成员及无血缘健康对照者均未检测到NEMO基因缺失。所有家系成员及无血缘健康对照者均未检测到△NEMO基因缺失。结论 NEMO基因外显子4-10缺失是该先证者的致病基因突变。跨越断裂点PCR扩增技术可用于检测色素失禁症NEMO基因突变,具有一定的推广和应用价值。

Objective To detect anti analyze the NEMO sequence of a pigmented incontinence family by PCR method across the break point. Methods The clinical symptoms anti family history of the family members were collected,anti the peripheral blood DNA was extracted. The specific deletion of NEMO gene or delta NEMO pseudogenes was amplified by PCR method across the break point, anti analyzed by agarose gel electrophoresis anti sequencing analysis, the same analysis was performed on a healthy control who was not related to the family. Results 2.5 year old proband anti her mother, grandmother, there were NEMO gene deletion of exon 4-10,other family members anti non-blood healthy control were not detected in the absence of NEMO. All family members anti non-blood healthy control were not detectedin the absence of △NEMO. Conclusion The deletion of exon 4-10 of NEMO gene is the mutation of the pathogenetic gene of the precursor. The PCR method across the break point can be used to detect the mutation of NEMO gene of pigment incontinence, which has certain value of promotion anti application.