遗传性泛发性色素异常症ABCB6基因突变检测

Mutation detection of ABCB6 gene with dyschromatosis universalis hereditaria

目的:检测3例遗传性泛发性色素异常症患者ABCB6基因的突变。方法:提取患者外周血DNA,采用PCR扩增患者ABCB6基因的全部外显子及其侧翼序列,对PCR扩增产物直接测序检测基因突变。结果:3例患者该基因编码区所有外显子均未发现突变。结论:本研究中3例遗传性泛发性色素异常症患者的发病与ABCB6基因的编码区序列无关。

Objective：To identify mutations of ABCB6 gene in three patients with dyschromatosis univers-alis hereditaria. Methods：After extracting DNA from peripheral blood, all the exons of ABCB6 gene and their flanking intronic sequences were amplified by PCR, and then, direct sequencing was performed to screen the mutations in the gene. Results：No mutation was found in any of the exon in ABCB6 gene from the three pa-tients. Conclusion： The pathogenesis of the three patients with dyschromatosis universalis hereditaria has nothing to do with the sequence of coding region in ABCB6 gene.