三个角膜营养不良家系的TGFBI基因突变

TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy

目的 筛查3个角膜营养不良家系患者TGFBI基因突变。方法 采集患者外周静脉血，提取基因组DNA，采用直接测序对TGFBI基因全部17个外显子以及外显子内含子拼接部进行序列分析。结果 3个家系中两个家系表型为格子样角膜营养不良1型（lattice corneal dystrophy type Ⅰ，LCDI）和格子样角膜营养不良3A型（1attice corneal dystrophy type ⅢA，LCDⅢA），另外1个家系为Avellino角膜营养不良（avellino corneal dystrophy，ACD）。在两个LCD家系中分别检出编码子R124C和H626R突变，而在ACD家系中检出R124H突变。结论 TGFBI基因是引起角膜营养不良的致病基因。R124和H626是角膜营养不良的突变热点。

Objective To screen the transforming growth factor, beta-induced （TGFBI） gene mutation in three Chinese families with autosomal dominant corneal dystrophy. Methods Analysis of the TGFBI gene mutations was performed by direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in all affected members from the three families. Results Three kinds of TGFBI gene mutations,R124C and H626R were detected in the patients of the two lattice conneal dystrophy families, and R124H was detected in the Avellino corneal dystrophy family. Conclusion TGFBI gene mutations are the underlying molecular mechanism of the pathogenesis for corneal dystrophy. The R124 and H626 are the hot spots of TGFBI gene mutation in this disease.