罕见双胞胎侵袭性牙周炎家系组织蛋白酶C基因突变分析

Cathepsin C gene mutations in twins with aggressive periodontitis

目的:对患有侵袭性牙周炎双胞胎病人,进行家系组织蛋白酶C(CTSC)基因的突变和突变类型分析。方法:应用聚合链酶反应(Polymerase Chain Reaction,PCR)和DNA测序的方法对1例双胞胎同时患有侵袭性牙周炎的病人、家系进行基因突变分析。结果:两名双胞胎病人CTSC基因的第三外显子存在c.394C→G的单碱基突变,测序图表现为单峰(G)。其父母、胞弟存在同一位点的突变,测序图表现为杂合双峰。结论:双胞胎侵袭性牙周炎的发病与遗传因素密切相关,组织蛋白酶C基因的突变可能是造成病人临床表型的重要原因之一。

AIM：To identify the cathepsin C（CTSC） gene mutations and mutation patterns in twins with aggressive periodontitis.METHODS：Polymerase chain reaction and DNA sequencing were performed to screen mutations and mutation pattern of CTSC gene in twins with aggressive periodontitis and their family members.RESULTS： Single base mutations were found in the two patients.A mutation of c.394C→G was detected in the 3rd exon and a single peak in DNA sequencing was resulted by the mutations.Their mother and brother were found the same mutation, and two heterozygous double peaks in DNA sequencing were resulted by these mutations.No mutation was found in their father.CONCLUSION：Aggressive periodontitis in twins is closely related to hereditary factor,CTSC gene mutation is an important cause of the phenotype of the disease.