Qi Yan-hua, He Hong-dan, Li Ying, Lin Hui, Gu Jing-zhi, Su Hong, Huang Shang-zhi
Department of Ophthalmology, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, 150086 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Jun;23(3):310-2.
To identify what kind of TGFBI gene mutation happening to Chinese patients with corneal dystrophies.
Three Chinese families with stromal corneal dystrophies and one Chinese family with Thiel-Behnke corneal dystrophies were studied, of whom three were Han race and another was Mongolia race in China. All members of families were examined clinically and their genomic DNAs were extracted from blood leukocytes. Thirteen exons in TGFBI gene were amplified by polymerase chain reaction (PCR) and directly sequenced for molecular analysis.
Mutations in TGFBI gene were detected from all the patients with corneal dystrophy, but not found in normal subjects of families. The mutation R555W was found and identified from the family with granular corneal dystrophy; R555Q from the family with Thiel-Behnke corneal dystrophy; and R124H from the other two families with Avellino corneal dystrophy.
The above study results show that the amino acids R124 and R555, if their genetic codes result from the mutations, play an important role in the pathogenesis of autosomal dominant corneal dystrophy of Chinese patients, and the molecular genetic analysis can improve the accuracy of diagnosing corneal dystrophy. In China, the mutation R555Q found in the family with Thiel-Behnke corneal dystrophy is reported for the first time.
确定中国角膜营养不良患者发生何种转化生长因子β诱导蛋白（TGFBI）基因突变。
研究了三个患基质性角膜营养不良的中国家庭和一个患蒂尔-本克角膜营养不良的中国家庭，其中三个家庭为汉族，另一个为中国蒙古族家庭。对所有家庭成员进行临床检查，并从血液白细胞中提取基因组DNA。通过聚合酶链反应（PCR）扩增TGFBI基因的13个外显子，并直接测序进行分子分析。
在所有角膜营养不良患者中均检测到TGFBI基因突变，但在家庭成员的正常受试者中未发现。在颗粒状角膜营养不良家庭中发现并鉴定出R555W突变；在蒂尔-本克角膜营养不良家庭中发现R555Q突变；在另外两个阿韦利诺角膜营养不良家庭中发现R124H突变。
上述研究结果表明，氨基酸R124和R555若因基因突变产生，在中国患者常染色体显性角膜营养不良的发病机制中起重要作用，且分子遗传学分析可提高角膜营养不良诊断的准确性。在中国，首次报道了在蒂尔-本克角膜营养不良家庭中发现的R555Q突变。
