【摘要】 目的研究一先天性厚甲症Ⅱ型(PC鄄Ⅱ)患者家系基因突变,探讨基因突变和临床表现的关系。方法PCR扩增外周血基因组DNAK17基因第一外显子,PCR产物进行序列分析。结果家系中3例患者(2例为迟发型厚甲,分别在4岁和15~16岁发生)K17基因第92位密码子由AAT突变为AGT,导致K17角蛋白1A区N92S突变。而该家系中的2例正常人及与该家系无关的50例正常人未发现此突变。结论该PC鄄Ⅱ型家系存在K171A区N92S突变。K171A区突变可呈现为迟发型先天性厚甲。角蛋白基因突变位置可能不是PC鄄Ⅱ厚甲发生年龄的唯一决定因素,可能还存在其它遗传或环境因素决定PC鄄Ⅱ厚甲发生的年龄。更多还原

【Abstract】 Objective To investigate the gene mutation in a pedigree with pachyonychia congenita typeⅡ(PC-Ⅱ)and to explore the relationship between the mutation and clinical manifestations.Methods The exon1of K17gene of genomic DNA from peripheral blood was amplified by PCR,and the PCR products were sequenced by automated sequencing system.Results In all the3patients of the pedigree with PC-Ⅱ(2patients presented as delayed-onset PC at4and15-16years of age respectively),the codon92(AAT)of K17gene was mutated as AGT,which caused missense mutation(N92S)in the1A domain of keratin17,but the2unaffected members of the pedigree and50unrelated controls had no such mutation.Conclusions Mutation of N92S in the1A domain of keratin17exists in this pedigree with PC-Ⅱ.Our results indicate that mutation in the1A domain of keratin17can present as delayed-onset pachyonychia congenita.Therefore,the site and type of keratin mutation are not the sole determinant of the age of onset for PC-Ⅱ,there may be other genetic and/or environmental factors that determine the age of onset of PC-Ⅱ.更多还原