CAJ | 학술논문

目的：对我国鄂西北地区一格子状角膜营养不良家系进行研究，探讨这一格子状角膜营养不良类型与TGFBI 基因突变的关系。方法选取该家系共18例，包括第三代患者及配偶13例，第四代患者2例及无临床症状者3例。收集该家系所有研究对象外周血，提取基因组DNA，PCR扩增TGFBI基因4、11、12、14号外显子片段并进行直接测序，证实其突变位点。以家系内无近亲关系配偶5人和1名健康者为阴性对照。结果该家系基本符合常染色体显性遗传模式的特征，为LCD I /IIIA型。 TGFBI基因编码区进行基因直接测序，发现10例患者和2例无症状者携带者共同突变点为H626R。结论该家系为格子状角膜营养不良LCD I /IIIA型家系，该家系角膜混浊的直接原因是TGFBI基因H626R突变。
목적：대아국악서북지구일격자상각막영양불량가계진행연구，탐토저일격자상각막영양불량류형여TGFBI 기인돌변적관계。방법선취해가계공18례，포괄제삼대환자급배우13례，제사대환자2례급무림상증상자3례。수집해가계소유연구대상외주혈，제취기인조DNA，PCR확증TGFBI기인4、11、12、14호외현자편단병진행직접측서，증실기돌변위점。이가계내무근친관계배우5인화1명건강자위음성대조。결과해가계기본부합상염색체현성유전모식적특정，위LCD I /IIIA형。 TGFBI기인편마구진행기인직접측서，발현10례환자화2례무증상자휴대자공동돌변점위H626R。결론해가계위격자상각막영양불량LCD I /IIIA형가계，해가계각막혼탁적직접원인시TGFBI기인H626R돌변。
Objective To establish clinical and genetic diagnosis in a family with lattice corneal dystrophy in the northwest of Hubei province of China , and to investigate the relationship between TGFBI mutation and clinical characters of familial lattice corneal dystrophy .Methods A family from northwesternHubei , China was studied for familial lattice cor-neal dystrophy.Third generation offspring and their spouses ( n =13), and fourth generation offspring ( n =5, including 3 asymptomatic subjects ) of the family were studied .Peripheral blood was collected from each participant and genomic DNA was extracted.The hot spot mutations of encoding region of TGFBI ,4, 11, 12, 13 and 14 exons were amplified by polymer-ase chain reaction ( PCR) , followed by direct gene sequencing .As negative control , six healthy members of the pedigree were also tested .Results The clinical appearance of the family fits the pattern of autosomal dominant inheritance disorder and features of the LCD I/IIIA type.We found a common mutation point of exon 14 by direct gene sequencing: H626R. The TGFBI mutation was not found in the six relatives of the pedigree .Conclusion The patients in the family suffered from lattice corneal dystrophy type I/IIIA, which was directly caused by TGFBI gene H 626R mutations.