一个中国阿韦利诺角膜营养不良家系中的TGFBI基因突变分析
TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy.
作者信息
Xie Ai-Rui, Cai Su-Ping, Yang Yin, Fan Yin-Chuan, Yu Wen-Han, Guo Li-Heng, Yang Qiao-Na, Zhu Jin, Liu Xu-Yang
机构信息
Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.
出版信息
Int J Ophthalmol. 2011;4(3):275-9. doi: 10.3980/j.issn.2222-3959.2011.03.13. Epub 2011 Jun 18.
AIM
To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD).
METHODS
Complete ophthalmic examinations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database.
RESULTS
A single heterozygous G>A (R124H) point mutation was identified in exon 4 of TGFBI in three affected members and two unaffected children who were offsprings of the affected members, but not in the other family members.
CONCLUSION
Mutation R124H in TGFBI was identified in this pedigree and appeared to be the disease causing mutation. Atypical phenotype and low penetrance was observed in this pedigree.
目的
分析一个患有阿韦利诺角膜营养不良（ACD）的中国家系的表型和基因型。
方法
对所有家庭成员进行全面的眼科检查。通过聚合酶链反应扩增转化生长因子β诱导蛋白（TGFBI）的外显子，进行测序，并与参考数据库进行比较。
结果
在三个患病成员以及两个患病成员的后代（未患病儿童）的TGFBI第4外显子中鉴定出一个单一的杂合G>A（R124H）点突变，而其他家庭成员中未发现该突变。
结论
在这个家系中鉴定出TGFBI的R124H突变，该突变似乎是致病突变。在这个家系中观察到非典型表型和低外显率。
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