一例色素失禁症女婴IKBKG/NEMO基因的突变分析  

Analysis of the IKBKG /NEMO gene mutation in a female infant with incontinentia pigmenti

作　　者：张新愉[1] 蒋玮莹[2] 陈路明[2] 田秋红[2] 陈素琴[2] 

机构地区：[1]中山大学中山眼科中心,广州510060 [2]中山大学中山医学院医学遗传学教研室,广州510080

出　　处：《新医学》2013年第11期793-796,共4页Journal of New Medicine

基　　金：国家自然科学基金(81200402;81200670)

摘　　要：色素失禁症(IP)是一种罕见的X-连锁显性遗传性皮肤病。其致病基因主要为B细胞编码κ轻链多肽抑制基因(IKBKG),NF-κB关键调节因子(NEMO)基因。该文综合分析1例IP患儿的临床资料,并提取患儿及其父母的外周血DNA,先用多重聚合酶链反应(PCR)扩增方法检测频发突变共有序列NEMOΔ4-10缺失,再用跨越断裂点PCR方法扩增NEMO或ΔNEMO基因特异性缺失,并对PCR产物进行序列分析验证。患儿存在NEMO基因外显子4-10的缺失;该突变遗传自其表型正常的母亲。NEMO基因外显子4-10的缺失是该患儿的致病性突变。该研究进一步证实了NEMOΔ4-10缺失这种基因组重排是IP患者最常见的突变类型。Incontinentia pigmenti （ IP） is a rare X-linked dominant genodermatosis.Mutations in the kappa light polypeptide gene enhancer in B-cells, kinase gamma （IKBKG）, also called nuclear factor-kap-pa B essential modulator （ NEMO） , gene are the most common cause of IP.In this paper , the clinical data of a Chinese female infant with IP was investigated.DNA was extracted from peripheral blood of the infant and her parents.Mutiplex polymerase chain reaction （ PCR） was carried out to detect the recurrent mutation , the com-mon deletion NEMOΔ4-10 as either NEMO or ΔNEMO.Then NEMO-specific or ΔNEMO-specific Gap-PCR was used to identify the deletion type.The PCR products were verified by sequencing.Deletion of exons 4 to 10 in NEMO was detected in the infant , which was transmitted from her phenotypically normal mother.The NEMOΔ4-10 deletion mutation in NEMO was responsible for the infant with IP.This study confirmed that the common genomic rearrangement in NEMO accounts for the majority of mutations in IP patients.

关 键 词：色素失禁症 缺失 NF-κB关键调节因子基因 B细胞编码κ轻链多肽抑制基因 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]