摘要
目的研究侵袭性牙周炎家系组织蛋白酶C基因(CTSC)的突变及其突变类型。方法应用聚合酶链反应PCR和DNA测序的方法,对一例7岁侵袭性牙周炎患儿及其父母进行基因突变的分析。结果在患儿CTSC基因的第7外显子存在1015C＞T,R339C和1040A＞G,Y347C的杂合突变,测序图表现为两个杂合双峰,其中1015C＞T碱基突变来自父亲,1040A＞G碱基的突变来自母亲。结论本研究在一例青春前期的侵袭性牙周炎患儿检测到组织蛋白酶C基因的突变,该突变产生异常的组织蛋白酶C,导致疾病表型的发生。
Objective To identify the CTSC gene mutations and mutation patterns in a Chinese aggressive periodontitis family. Methods Polymerase chain reaction and DNA sequencing were performed to screen mutations and mutation patterns of CTSC gene in a seven year old boy with aggressive periodontitis and his parents. Results A compound heterozygous mutation in CTSC gene was found in this patient, A mutation of C to T was detected by sequencing at the nucleotide 1015 and a A to G mutation at nucleotide 1040 which caused a R339C and Y347C amino acid substitution respectively. Two heterozygous double peaks in DNA sequencing were resulted by the mutations. His mother and father were the carriers of 1040A〉G and 1015C〉T mutations respectively. Conclusion CTSC gene mutations in a Chinese patient with prepubertal aggressive periodontitis were detected. The mutations produce abnormal cathepsin C which may cause the phenotype of the disease.
出处
《现代口腔医学杂志》
CAS
CSCD
北大核心
2006年第5期479-481,共3页
Journal of Modern Stomatology
