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目的探讨中国格子状角膜营养不良(LCD)患者基因突变类型。方法对2002年7至11月来我院就诊的8例不伴有全身淀粉样物质沉积的LCD患者,自静脉血提取全血白细胞DNA,应用聚合酶链反应(PCR)技术,扩增BIGH3基因目的片段,并对其进行DNA直接测序;同时行裂隙灯显微镜检查并照裂隙灯显微镜外眼像。收集32名正常人静脉血样进行同样检测,作为对照。结果3例检出BIGH3基因第4外显子的R124C突变(417位点碱基C→T),呈杂合子,临床表现为典型的LCDⅠ型;另外5例检出第14外显子的H626R突变(1924位点碱基A→G),亦为杂合子,该型临床表现介于LCDⅠ型与LCDⅢ或ⅢA型之间,为一中间类型。结论中国LCD患者中既存在引起LCDⅠ型的R124C突变,也存在H626R突变。因此,H626R突变并非是英国和法国特有的类型,也可为亚洲患者的一种基因突变类型。
Objective To investigate the gene mutation types in patients with lattice-like corneal dystrophy (LCD) in China. Methods Eight patients with LCD without systemic amyloid deposition from July to November 2002 were enrolled in this study. Whole blood leukocyte DNA was extracted from venous blood. Polymerase chain reaction (PCR) was used to amplify BIGH3 gene The purpose of the fragment, and direct DNA sequencing; at the same time slit lamp microscopy and according to slit lamp microscope outside the eye. 32 normal venous blood samples were collected for the same test, as a control. Results The R124C mutation (base C → T at position 417) was found in 3 cases of BIGH3 gene exon 4, which was heterozygous with clinical manifestation as typical LCD type Ⅰ. The other 5 cases with exon 14 H626R Mutations (base 1924 A → G), also heterozygous, the clinical manifestations of the type between the LCD Ⅰ and LCD Ⅲ or Ⅲ A between type, as an intermediate type. Conclusion There are both R124C mutations causing LCD type Ⅰ and H626R mutations in LCD patients in China. Therefore, the H626R mutation is not unique to the United Kingdom and France and may be a type of mutation in Asian patients.