摘要
目的用长链聚合酶链反应进行检测家族性色素失禁症（incontinentia pigmenti，IP）患者的NEMO基因的缺失突变。方法收集一色素失禁症家系的临床资料，选取NEMO基因特异引物In2／JF3R和假基因ANEMO的特异引物Rev-2／JF3R，采用长链聚合酶链反应对家系内成员NEMO基因和假基因ΔNEMO的缺失位点进行检测，同时对80名无血缘关系健康对照者的该位点进行同样检测。结果所有患者皆有NEMO基因和假基因ΔNEMO基因共有序列NEMOΔ4-10缺失，而在家系内非患者以及80名正常对照者中均未发现NEMO基因和假基因ANEMO的共有序列NEMOΔ4-10缺失。结论该家系为一个典型遗传早现现象的IP家系，NEMO基因和ΔNEMO的缺失突变导致其发病。长链PCR扩增技术可用于检测NEMO基因的缺失突变，对于遗传咨询具有一定的应用价值。
Objective To detect the genomic deletion mutation in the NEMO gene of a family with incontinentia pigmenti （IP; MIM 308310）. Methods A pedigree of IP was investigated. By using long PCR, the A4-10 deletion in NEMO gene was tested with specific primers In2/JF3R, and Δ4-10 deletion in pseudogene ΔNEMO was investigated with primers Rev-2/JF3R. NEMO gene of 80 normal controls was also tested. Results The deletion of exons 4-10 in both NEMO gene and the pseudogene ΔNEMO was detected in ＇all the patients in the family, but was not found in the normal individuals in this IP family and 80 unrelated controls. Conclusion The study showed that the family with IP, which showed anticipation, was caused by NEMOΔ4-10 deletion in the NEMO gene. Long PCR analysis is preven to to an efficient tool for identification of NEMO rearrangements. It could provide useful information for the genetic counseling of the family involved.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2008年第5期573-575,共3页
Chinese Journal of Medical Genetics
关键词
色素失禁症
缺失
长链PCR
incontinentia pigmenti
deletion
long polymerase chain reaction
