molecular genetics analysis of pseudoexfoliation syndrome.

本研究包括2例格子状角膜营养不良伴假性剥脱综合征患者和10例正常家族成员。格状角膜营养不良是由TGFBI基因突变引起的。采用基因特异性引物直接测序法检测TGFBI基因突变。4例患者存在错义突变L527R，其中2例无格子状角膜营养不良。提示L527R错义突变引起的格子状角膜营养不良的发生率可能为50%。2例患者的表型和疾病严重程度几乎相同，因此，如果L527R错义突变导致格子状角膜营养不良，可能不会观察到表型差异。

This study was involved 2 affected of lattice corneal dystrophy with pseudoexfoliation syndrome and 10 unaffected family individuals. Lattice corneal dystrophy is caused by mutation of TGFBI gene. A mutation of TGFBI was detected by direct sequencing method using gene specific primer. A missense mutation L527R was revealed in 4 individuals, but 2 of that 4 individuals were without lattice corneal dystrophy. This result suggests that penetrance of lattice corneal dystrophy caused by L527R misssense mutation may be 50%. Phenotype and severity of disease in 2 affected members were almost equal, therefore difference of phenotype may not be variably observed if lattice corneal dystrophy caused by L527R missense mutation.