BIGH3基因的Arg555Trp突变引起颗粒状角膜营养不良

Arg555Trp mutation of BIGH3 gene inducing granular corneal dystrophy Groenouw type Ⅰ

目的 阐明颗粒状角膜营养不良(CDGGⅠ )的发病机制。 方法 采用聚合酶链式反应 -单链构象多态性(PCR SSCP)分析,对 1个CDGGⅠ病例进行BIGH3基因第 12号外显子的突变筛查,并对发现的异常泳动带进行DNA测序,以确定突变位点。 结果 CDGGⅠ患者在 12号外显子有Arg555Trp突变。 结论 BIGH3基因突变Arg555Trp是导致CDGG1的原因。

Objective To elucidate the pathogeny of granular corneal dystrophy Groenouw type Ⅰ(CDGGⅠ) in Chinese patient. Methods Polymerase chain reaction single strand conformational polymorphism (PCR SSCP) assay was performed to examine exon 12 of BIGH3 (Human transforming growth factor beta induced) gene in one case,and fragments with a mobility shift were sequenced to identify the gene mutation. Results C→T mutation at the first nucleotide position of codon 555 of BIGH3 gene was found in patient with CDGGⅠ,this mutation changes arginine residued to tryptophan (Arg555Trp). Conclusion The mutation of Arg555Trp in BIGH3 gene can induce CDGG Ⅰ.