一个掌跖角化牙周破坏综合征家系CTSC基因突变鉴定

来源 :第十四次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户:roc59516663
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  目的:对一个掌跖角化牙周破坏综合征家系进行临床表型分析和CTSC基因突变检测,揭示其分子机制,为遗传咨询提供依据.方法:通过临床表型、口腔检查等进行临床诊断;通过PCR扩增CTSC基因外显子,之后采用Sanger测序法进行CTSC基因突变筛查;随后运用PolyPhen-2和SIFT软件进行突变基因有害性预测;同时,进行了Swiss-Port软件上的CTSC蛋白三级结构预测;并采用荧光定量PCR技术对患者及其父母的CTSC基因mRNA进行定量分析,以及利用Western blot研究野生型和突变型CTSC蛋白表达差异.结果:患者CTSC基因第7外显子存在c.901G>A(p.G301S)纯合错义突变,其父母均为该突变的携带者.该突变位于酶的高度保守区,有害性预测结果显示该位点突变有害,突变导致蛋白三级结构发生改变,而且会影响组织蛋白酶C的活性.CTSC基因突变型mRNA和蛋白的表达量与野生型的差异无统计学意义.结论:首次在中国人群中报道了CTSC基因c.901G>A突变导致掌跖角化牙周破坏综合征,扩展了我国CTSC基因的突变谱.
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