|
|||||
|
|
| 色素失禁症一家系NEMO基因缺失 | |
| 引用本文： | 张士发,吴雨虹,赵丽萍,赵卓,王艳红,蒋中华. 色素失禁症一家系NEMO基因缺失[J]. 中国麻风杂志, 2013, 0(12): 749-752 |
| 作者姓名： | 张士发 吴雨虹 赵丽萍 赵卓 王艳红 蒋中华 |
| 作者单位： | [1]沈阳军区总医院皮肤科,沈阳,110016 [2]沈阳医学院细胞与遗传学教研室,沈阳,110036 |
| 基金项目： | 国家科技部＂863＂项目（编号：2007AA02Z440）;高等学校博士学科点专项科研基金（编号：20102104120024）;沈阳医学院科技基金项目（编号：20131002） |
| 摘 要： | 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. |
| 关 键 词： | 色素失禁症 NEMO基因 家系 多重聚合酶链反应 |
Deletion mutation of NEMO gene in a family with incontinentia pigmenti |
|
| Affiliation: | ZHANG Shi-fa, WU Yu-hong, ZHAO Li-ping, et al. Department of Dermatology, General Hospital of Shenyang Military Area Command, Shenyang , 110016 |
| Abstract: | 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. |
| Keywords: | incontinentia pigmenti NEMO kindred multi-PCR |
| 本文献已被 维普 等数据库收录！ | |