CAJ | 학술논문

目的探讨掌跖角化牙周病综合征患者组织蛋白酶C基因(CTSC)突变的特点.方法收集1例掌跖角化牙周病综合征患者的临床资料,采集患者及其父母的外周静脉血各2 ml,同时取100例健康人的静脉血2ml作为对照.以提取的DNA作为模板,用成对的外显子特异性引物对患者的CTSC基因的全部7个外显子进行PCR扩增后直接测序,检测患者CTSC基因的突变情况.结果患者的CTSC基因存在复合型杂合突变,外显子6内第824位碱基C被T置换(c.824C＞ T),此突变导致CTSC基因第275位氨基酸密码子由ACC替换为ATC,其编码的氨基酸由苏氨酸替换为异亮氨酸(p.T275I);外显子7内第1040位碱基A被G置换(c.1040A＞ G),导致CTSC基因第347位氨基酸密码子由TAT替换为TGT,其编码的氨基酸由酪氨酸变为半胱氨酸(p.Y347C).其中c.824C＞T突变是CTSC基因的新突变位点.患者父亲和母亲分别为c.824C＞T和c.1040A＞G杂合突变.100例健康对照中未发现CTSC基因c.824C＞T和c.1040A＞G突变.结论 CTSC基因突变是导致掌跖角化牙周病综合征临床表型的致病原因,c.824C＞T突变扩大了CTSC基因的突变谱,为掌跖角化牙周病综合征的基因诊断提供了依据.
목적 탐토장척각화아주병종합정환자조직단백매C기인(CTSC)돌변적특점.방법 수집1례장척각화아주병종합정환자적림상자료,채집환자급기부모적외주정맥혈각2 ml,동시취100례건강인적정맥혈2ml작위대조.이제취적DNA작위모판,용성대적외현자특이성인물대환자적CTSC기인적전부7개외현자진행PCR확증후직접측서,검측환자CTSC기인적돌변정황.결과 환자적CTSC기인존재복합형잡합돌변,외현자6내제824위감기C피T치환(c.824C＞ T),차돌변도치CTSC기인제275위안기산밀마자유ACC체환위ATC,기편마적안기산유소안산체환위이량안산(p.T275I);외현자7내제1040위감기A피G치환(c.1040A＞ G),도치CTSC기인제347위안기산밀마자유TAT체환위TGT,기편마적안기산유락안산변위반광안산(p.Y347C).기중c.824C＞T돌변시CTSC기인적신돌변위점.환자부친화모친분별위c.824C＞T화c.1040A＞G잡합돌변.100례건강대조중미발현CTSC기인c.824C＞T화c.1040A＞G돌변.결론 CTSC기인돌변시도치장척각화아주병종합정림상표형적치병원인,c.824C＞T돌변확대료CTSC기인적돌변보,위장척각화아주병종합정적기인진단제공료의거.
Objective To analyze mutations in the cathepsin C (CTSC) gene in a patient with Papillon-Lefèvre syndrome (PLS).Methods Clinical data were collected from a patient with PLS.Two milliliters of venous blood samples were obtained from the patient,his parents and 100 unrelated healthy controls separately.DNA was extracted from these blood samples,and PCR was performed to amplify all the 7 exons of the CTSC gene followed by direct DNA sequencing.Results Two heterozygous mutations were observed in the CTSC gene of the patient.One was a novel mutation c.824C ＞ T at position 824 in the exon 6,which resulted in a substitution of ACC (threonine) by ATC (isoleucine) at codon 275 (p.T275I).The other one was the mutation c.1040A ＞ G at position 1040 in the exon 7,causing the substitution of TAT (tyrosine) by TGT (cysteine) at codon 347 (p.Y347C).His father and mother carried the heterozygous mutation c.824C ＞ T and c.1040A ＞ G respectively.Neither of the two mutations was observed in the 100 healthy controls.Conclusions CTSC mutations are responsible for the clinical phenotype of PLS.Identification of the c.824C ＞ T mutation extends the spectrum of mutations in the CTSC gene and provides a basis for genetic diagnosis of PLS.