表皮松解性角化过度鱼鳞病COL7A1基因突变研究

目的探讨一个表皮松解性角化过度鱼鳞病家系基因的突变。方法提取表皮松解性角化过度鱼鳞病患者及家族成员的基因组DNA，采用PCR扩增COL7A1基因所有的外显子及其邻近的剪切点并进行双向直接测序，用PCR检测突变位点从而进一步确定家系的致病原因。结果发现患者COL7A1基因的一条等位基因第2号外显子上存在S48P的错义突变，而另一条等位基因第27号外显子上存在3625del 11缺失突变，造成编码区阅读框架的移位，最终导致蛋白终止密码（PTC）的生产。结论COL7A1基因的缺失突变和锆义突变引起该患者临床症状的特异突变。

COL7A1 gene mutations in family with epidermolysis bullosa ichthyosis

Objective To investigate the mutations of the fish gene of epidermolysis bullosa hyperkeratosis pedigree. Methods The genomic DNA, COL7A1 gene of hyperkeratosis epidermolysis bullosa ichthyosis patients and family members was extracted by PCR amplification of all exons and in the vicinity shear sites and two - way direct sequencing. The mutation sites were detected by using PCR for further identification of the pathogenicity of epidermolysis bullosa hyperkeratosis ichthyosis. Results There S48P the missense mutation on allele gene No. 2 exons of COL7A1 and another one deletion mutation on allele No. 27 of the existence of exon 11 mutant del 3625 were observed, that resulted in the shifting of coding region of the open reading frame and eventually leading to the termination of production of code. Conclusion The deletion mutation and missense mutation of COL7A1 gene result in the specific mutation in patients with clinical symptoms.