目的：探讨我国东北地区一个格子状角膜营养不良(lattice corneal dysprothy，LCD)家系中TGFBI基因的突变类型与临床分型的相关性。

方法：对该家系中的2名正常人和患者进行眼科基本检查，抽取外周血进行基因突变检测。选取50名健康个人作为对照。应用聚合酶链反应(PCR)方法对TGFBI基因的所有外显子进行测序以检测突变位点。

结果：该家系中患者均检出TGFBI基因第4外显子R124C突变(c.370C>T)。该家系中正常成员及其他50名健康个体均未发现该位点的突变。

结论：确定该LCD家系患者的角膜病变由TGFBI基因R124C突变引起，同时也验证了R124C突变热点。

METHODS: A basic ophthalmologic examination was performed on the patients and two normal persons in the family. Genomic DNA of three affected, two unaffected family members and 50 normal individuals was extracted from peripheral leukocytes. All exons of TGFBI were amplified by polymerase chain reaction(PCR)methods and direct sequencing was carried out for mutation analysis.

RESULTS: A missense mutation(c.370C>T)in exon 4 of TGFBI led to an amino acid substitution R124C in the TGFBI protein in all affected family members, but the mutation was not detected in normal subjects of the family and control individuals.

CONCLUSION: We conclude that the novel mutation R124C causes lattice corneal dystrophy type I in the studied family. It was verified that R124C is a hot spot mutation in LCD I.