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目的 探讨中国Reis Bücklers角膜营养不良患者的TGFBI基因的突变特征及其与临床表现的关系。方法 对于彼此无亲缘关系的两家系 10例患者及其家族中 2名正常成员进行基因分析。采取外周血 10ml,制备外周血白细胞基因组DNA,应用合成的特异性引物,聚合酶链反应(PCR)分别扩增TGFBI基因的第 4、12外显子,将基因产物进行直接测序,分析相应基因序列。结果两家系均呈现常染色体显性遗传。临床上表现为角膜上皮下及前弹力膜中细小的颗粒状混浊,随年龄增长而逐渐融合、扩大呈地图样外观,符合Reis Bücklers角膜营养不良地图型的诊断。基因序列分析呈现TGFBI基因第 124密码子第二个碱基G→T碱基点突变,导致精氨酸转变为亮氨酸(R124L)。结论 中国Reis Bücklers角膜营养不良患者两家系均呈现R124L基因突变,表现为Reis Bücklers角膜营养不良地图型改变。基因分析将为疾病的确诊提供可靠依据。
Objective To investigate the mutation of TGFBI gene in Chinese Reis Bücklers corneal dystrophy patients and its relationship with clinical manifestations. Methods Genetic analysis was performed in 10 patients and their normals in two families unrelated to each other. Peripheral blood was collected from 10ml to prepare genomic DNA of peripheral blood leukocytes. Genes 4 and 12 of TGFBI gene were amplified by polymerase chain reaction (PCR) using specific synthetic primers. The gene products were directly sequenced and the corresponding genes were analyzed sequence. Results Both families showed autosomal dominant inheritance. Clinical manifestations of small corneal epithelial and prefrontal elastic membrane granular turbidity, with gradual fusion with age, expanding the map-like appearance, in line with the Reis Bücklers corneal dystrophy map diagnosis. Sequence analysis of the gene revealed a G → T base point mutation at the second base of codon 124 of TGFBI gene, resulting in the conversion of arginine to leucine (R124L). Conclusions The R124L gene mutation in both Chinese Reis Bücklers corneal dystrophy patients presents with a pattern change of Reis Bücklers corneal dystrophy. Genetic analysis will provide a reliable basis for the diagnosis of the disease.