【摘要】 目的　了解我国色素失禁症病例的NEMO基因共有序列NEMOΔ4~10缺失情况。方法　儿童色素失禁症病例 7例及其部分家庭成员共 15人被纳入实验组,同期 50例无血缘关系,无遗传性疾病儿童随机抽取作为正常对照。依据色素失禁症基因结构特点,选取NEMO基因特异引物In2 /JF3R和假基因ΔNEMO特异引物Rev 2 /JF3R,采用长链聚合酶链反应(PCR)进行检测。结果　7例患儿 5例(5 /7) (例 1、2、3、4和 6)有NEMO基因共有序列NEMOΔ4 ~10缺失,其中例 1和例 6母女患病,母亲 1a和 6a检测结果同样显示有NEMO基因共有序列NEMOΔ4~10缺失; 7例患儿,只有例 2和例 4假基因ΔNEMO中出现共有序列NEMOΔ4 ~10缺失,相关家族成员假基因ΔNEMO无共有序列NEMOΔ4 ~ 10缺失。正常对照组 50例NEMO和假基因ΔNEMO均未发现有共有序列NEMOΔ4~10缺失。结论　色素失禁症基因突变方式大部分为NEMO基因共有序列NEMOΔ4 ~10缺失。更多还原

【Abstract】 Objective Incontinentia pigmenti (IP) is a rare X-linked dominant disorder tha t affects ectodermal tissues. In IP, mutations in NEMO lead to the complete loss of NF-kB activation creating a susceptibility to cellular apoptosis in respons e to TNF-α. Recently, a second nonfunctional copy of the gene, ΔNEMO was iden tified, opposite in direction to NEMO. Almost 90% of IP whose gene mutation type had been recognized have a recurrent genomic deletion of exons 4-10 of the NEMO (IKKγ) gene, called NEMOΔ4-10, which is necessary to activate the NF-kB path way. Therefore, PCR-based detection of the NEMO deletion is a diagnostic measur ement for IP. This study sought to analyze the NEMOΔ4-10 deletion in NEMO gene of Chinese IP cases. Methods Seven IP cases and part of their families totally 15 persons were enrolled in th is study. The 7 IP cases were aged 41 days to 8 years. Among them 1 was male and 6 were female. Four cases had family history of IP, the other 3 were sporadic cases. Fifty healthy children without any congenital diseases were taken as norm al control group. According to the gene characteristics of IP, by PCR measuremen t NEMOΔ4-10 deletion in NEMO gene was tested with specific primers In2/JF3R, a nd NEMOΔ4-10 deletion in pseudogene ΔNEMO was checked out by primers Rev-2/JF 3R. Results Five out of the 7 tested cases (case 1, 2, 3, 4, and 6) showed NEMOΔ 4-10 deletion in NEMO gene. The mothers of case 1 and case 6, 1a and 6a, also s uffered from this disease, and their results were just the same as their daughte rs. For pseudogene ΔNEMO only case 2 and case 4 were proved having NEMOΔ4-10 d eletion, while other cases and families had negative results. For normal control group, NEMOΔ4-10 deletion was not found either in NEMO gene or in their pseudo gene ΔNEMO. Conclusion Incontinentia pigmenti in most cases were caused by NEMOΔ4-10 deleti on in NEMO gene.更多还原