CAJ | 학술논문

目的斑状角膜营养不良(MCD)是一种临床表现为进行性角膜斑状混浊的少见常染色体隐性遗传病,由碳水化合物磺基转移酶(CHST6)基因突变导致,最终常需角膜移植手术治疗.研究MCD患者的CHST6基因突变,为患者及家属提供基因诊断和遗传咨询.方法聚合酶链式反应法研究.对2009年8月至2010年12月在大连医科大学附属第一医院眼科收治的MCD一家系3例同代患者的CHST6基因的第3外显子片段进行扩增后直接DNA测序,以明确突变位点及突变类型.结果 3例第3外显子均发生共同的复合式突变:T62M62-63insA,致使终止密码子提前出现至第322位碱基.结论 CHST6基因第3外显子的T62A/62-63insA突变可为患者及亲属提供基因诊断及家系遗传指导.且迄今为止该突变首次被发现.
목적 반상각막영양불량(MCD)시일충림상표현위진행성각막반상혼탁적소견상염색체은성유전병,유탄수화합물광기전이매(CHST6)기인돌변도치,최종상수각막이식수술치료.연구MCD환자적CHST6기인돌변,위환자급가속제공기인진단화유전자순.방법 취합매련식반응법연구.대2009년8월지2010년12월재대련의과대학부속제일의원안과수치적MCD일가계3례동대환자적CHST6기인적제3외현자편단진행확증후직접DNA측서,이명학돌변위점급돌변류형.결과 3례제3외현자균발생공동적복합식돌변:T62M62-63insA,치사종지밀마자제전출현지제322위감기.결론 CHST6기인제3외현자적T62A/62-63insA돌변가위환자급친속제공기인진단급가계유전지도.차흘금위지해돌변수차피발현.
Objective To investigate the mutations of the gene in a Chinese family with Macular corneal dystrophy (MCD),and to provide the genetic diagnosis and consultation of heredity for the patients and their families.Methods Genomic DNA was isolated from leukocytes of 3 patients of a family with MCD from the northeast China.The third exon of carbohydrate sulfotransferase 6(CHST6) gene were amplified by polymerase chain reaction (PCR) and the positions and types of gene mutations were further determined by direct sequencing.Results A common frameshift mutation due to base insert of the third exon:T62A/62-63insA was detected in all 3 MCD patients,and the terminal codon exists at NO.322 base earlier.Conclusions The mutation T62A/62-63insA is first found in MCD family,which can be used for genetic diagnosis and consultation directly.