表皮松解性角化过度型鱼鳞病两家系基因突变研究

目的 探讨两个表皮松解性角化过度型鱼鳞病（EHK）家系的基因突变情况。 方法 收集两个EHK家系的临床资料，提取外周血DNA，通过PCR扩增角蛋白基因KRT1和KRT10编码区的全部外显子及其侧翼序列并测序，以表型正常家系成员及50例健康人作为对照。结果 发现两个家系中患者均存在KRT10基因突变，分别为KRT10的剪接位点突变c.1030-2A > G和错义突变c.467G > A，在家系中健康人及健康对照者未发现上述突变。结论 剪接位点突变c.1030-2A > G和错义突变c.467G > A，可能分别是导致这两个家系临床表型的原因。

Analysis of mutations in two families with epidermolytic hyperkeratosis

Objective To identify gene mutations in two families with epidermolytic hyperkeratosis （EHK）. Methods Clinical data were collected from two families with EHK. Peripheral blood was isolated from the probands and unaffected family members in the families as well as from 50 healthy controls. PCR was performed to amplify the encoding exons and flanking intron regions of KRT1 and KRT10 genes followed by direct DNA sequencing. Results Two mutations in the KRT10 gene, including a heterozygous acceptor splice site mutation in intron 4 （c.1030-2 A>G） and a heterozygous missense mutation c.467 G>A, were identified in the probands of both families, but absent in the unaffected family members or healthy controls. Conclusion The splice site mutation c.1030-2 A>G and missense mutation c.467 G>A might be responsible for the phenotype of EHK in the two families.