Alport综合征（AS）是一种遗传性慢性肾炎。肾脏病变、听力障碍和眼部异常是AS的突出特征，该疾病主要是由COL4A3、COL4A4和COL4A5这三个基因的突变所致，其中COL4A5基因突变导致的X连锁显性遗传型约占五分之四。患者常在10岁前发病，在30-40岁病情恶化为肾衰竭终末期。目前针对Alport综合征尚未明确疾病发展机制，也没有开发出有效治愈措施。

通过CRISPR-Cas9技术，有望从根本上寻找治愈该疾病的方法。对正常293T细胞，利用CRISPR-Cas9技术打断COL4A5 基因正常位点使其损坏，同时提供荧光蛋白GFP模板，在细胞自我修复后，即可得到截短体使得基因提前终止表达，最终可构建I型alport综合症细胞模型，进而为验证AS患者的基因型－表型相关性做铺垫工作。

Alport Syndrome is an inherited disorder developed with abnormal glomerular basement membrane (GBM) and early chronic kidney disease.   Features characterized as renal lesions, hearing impairment and ocular abnormalities, It is a genetic disease caused by mutations in the three genes of COL4A3, COL4A4 and COL4A5. Among them, the X-linked AS caused by COL4A5 gene mutation accounts for about 80%. Disease often develop before the age of 10, and the disease deteriorinto renal failure at the age of 30-40. The mechanism of disease development has not been defined, and no effective cure measures have been developed.

With CRISPR-Cas 9 technology, it is expected to find a fundamental cure for the disease. Damage at theCOL4A5 DNA site of 293FT cells，and provide a fluorescent protein GFP mutation template. After the cells repair themselves, The truncations can be obtained to terminate the gene expression early, and finally the cell model of type I alport syndrome can be established, thus paving the way for verifying the genotype-phenotype correlation in AS patients.