角膜营养不良家系的TGFBI基因突变研究  

A research on TGFBI gene mutations in Chinese families with corneal dystrophies

作　　者：齐艳华[1] 赫红丹[1] 李颖[1] 林辉[1] 谷静芝[1] 苏虹[1] 黄尚志[2] 

机构地区：[1]哈尔滨医科大学附属第二医院眼科,150086 [2]中国医学科学院基础医学研究所

出　　处：《中华医学遗传学杂志》2006年第3期310-312,共3页Chinese Journal of Medical Genetics

摘　　要：目的确定中国角膜营养不良患者所存在的TGFBI基因突变类型。方法对3个角膜基质营养不良家系和1个Thiel Behnke角膜营养不良家系进行分析,其中1个家系成员是蒙古族人,另3个家系则是汉族人。利用合成的TGFBI基因13个外显子的特异性引物,应用聚合酶链反应进行扩增,并直接测序分析。结果1个颗粒状角膜营养不良家系患者中检测到R555W突变;1个Thiel Behnke角膜营养不良家系患者为R555Q突变;另外2个Avellino角膜营养不良家系患者中发现R124H突变,这3种突变均为杂合子。结论研究表明R555和R124密码子在中国人常染色体显性遗传性角膜营养不良的发病机理中起重要作用。Thiel Behnke角膜营养不良患者为R555Q突变,在我国属首次报告。Objective To identify what kind of TGFBI gene mutation happening to Chinese patients with corneal dystrophies. Methods Three Chinese families with stromal corneal dystrophies and one Chinese family with Thiel- Behnke corneal dystrophies were studied, of whom three were Hart race and another was Mongolia race in China. All members of families were examined clinically and their genomic DNAs were extracted from blood leukocytes. Thirteen exons in TGFBI gene were amplified by polymerase chain reaction （PCR） and directly sequenced for molecular analysis. Results Mutations in TGFBI gene were detected from all the patients with corneal dystrophy, but not found in normal subjects of families. The mutation R555W was found and identified from the family with granular corneal dystrophy; R555Q from the family with Thiel-Behnke corneal dystrophy; and R124H from the other two families with Avellino corneal dystrophy. Conclusion The above study results show that the amino acids R124 and R555, if their genetic codes result from the mutations, play an important role in the pathogenesis of autosomal dominant corneal dystrophy of Chinese patients, and the molecular genetic analysis can improve the accuracy of diagnosing the corneal dystrophy. In China, the mutation R555Q found in the family with Thiel-Behnke corneal dystrophy is reported for the first time. mutations

关 键 词：角膜营养不良 TGFBI基因 常染色体显性遗传 杂合子 突变 

分 类 号：R772.2[医药卫生—眼科]