色素失禁症一家系NEMO基因缺失

Deletion mutation of NEMO gene in a family with incontinentia pigmenti

目的：检测家族性色素失禁症（incontinentia pigmenti,IP）患者NEMO基因的缺失突变.方法：选取NEMO基因特异引物nemo-Int3S、nemo-Rep3S和nemo-L2Rev,采用多重聚合酶链反应对家系内成员NEMO基因的缺失位点进行检测.结果：IP家系内所检测患者中皆有NEMO基因外显子4～10缺失,家系内正常人未见NEMO基因缺失.结论：该家系患者的基因突变方式为NEMO外显子4～10缺失.

Objective： To detect the deletion mutation in the NEMO gene of a family with incontinentia pigmenti （IP）. Methods： Specific primers nemo-Int3S, nemo-Rep3S and nemo-L2Rev were selected and NEMO gene in a family with IP was detected by muhi-PCR technique. Results： The exon 4-10 in NEMO gene was deleted in all of the patients of the family, while the exon 4-10 in NEMO gene was not deleted in the normal persons of the family. Conclusion： In this kindred the clinical IP is caused by the NEMO exon 4-10 deletion.