CAJ | 학술논문

目的检测中国人圆锥角膜患者TGFBI基因编码区点突变及单核苷酸多态性特点,探讨TGFBI基因与圆锥角膜的关系.方法应用聚合酶链反应-单链构象多态性和DNA直接测序技术,对30例圆锥角膜患者、30名正常对照外周血TGFBI基因编码区的17个外显子,进行了点突变和单核苷酸多态性的检测和分析.结果共发现2种TGFBI基因碱基变异,位于第12外显子,均为杂合性.1例圆锥角膜患者在TGFBI基因密码子535位点发生GGA→TGA置换,引起甘氨酸突变为终止密码(G535X),在对照组中未检出此突变;2例圆锥角膜患者和1名健康对照者在TGFBI基因密码子540位点发生TTT→TTC置换,不引起编码的苯丙氨酸改变(F540F),系TGFBI基因的多态性改变.结论中国圆锥角膜人群存在着TGFBI基因变异,提示TGFBI基因在圆锥角膜的发病中可能起一定的作用.
목적 검측중국인원추각막환자TGFBI기인편마구점돌변급단핵감산다태성특점,탐토TGFBI기인여원추각막적관계.방법 응용취합매련반응-단련구상다태성화DNA직접측서기술,대30례원추각막환자、30명정상대조외주혈TGFBI기인편마구적17개외현자,진행료점돌변화단핵감산다태성적검측화분석.결과 공발현2충TGFBI기인감기변이,위우제12외현자,균위잡합성.1례원추각막환자재TGFBI기인밀마자535위점발생GGA→TGA치환,인기감안산돌변위종지밀마(G535X),재대조조중미검출차돌변;2례원추각막환자화1명건강대조자재TGFBI기인밀마자540위점발생TTT→TTC치환,불인기편마적분병안산개변(F540F),계TGFBI기인적다태성개변.결론 중국원추각막인군존재착TGFBI기인변이,제시TGFBI기인재원추각막적발병중가능기일정적작용.
Objective To investigate the point mutations and polymorphisms of transforming growth factor β-induced gene (TGFBI) in Chinese patients with keratoconus and discuss the relationship between the feature of gene mutations and single nucleotide polymorphisms of TGFBI gene and keratoconus. Methods Polymerase chain reaction-single strand conformation polymorphism and DNA direct sequencing were performed in 30 keratoconus cases and 30 healthy controls. All 17 exons of the TGFBI gene were analyzed for point mutations and single nucleotide polymorphisms. Results Totally two heterozygous nucleotide changes were identified in exon 12 of the TGFBI gene. The codon 535 is changed from GGA to TGA in 1 patient, leading to a substitution of glycine to a stop codon at the protein level (G535X). The codon 540 is changed from TTT to TTC in 2 patients and 1 control individual, resulting in a nonsense mutation (F54F),and is a single nucleotide polymorphism of the gene. Conclusion Mutation and polymorphisms of the TGFBI gene were detected in Chinese patients with keratoconus in this study. The results suggest that TGFBI gene might play an important role in the pathogenesis of keratoconus.