A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis  

作　　者：Jing Liu Juan Bu 

机构地区：[1]Eye Department, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing 100191, China

出　　处：《Chinese Medical Journal》2017年第22期2709-2712,共4页中华医学杂志（英文版）

基　　金：This study was supported by grants from the Science and Technology Commission of Beijing Municipality Fund Project （No. Z171100000417039） and National Natural Science Foundation of China （No. 81300789）.

摘　　要：Background： Leber congenital anaaurosis （LCA） is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16% of all cases of LCA. This study aimed to identify RPE65 gene mutations in Chinese patients with LCA. Methods： We recruited 52 sporadic patients from Peking University Third Hospital in 2016 and applied Sanger sequencing to identil＇y variants among exons responsible for the disease. The genomic DNAs from blood leukocytes of these patients were isolated, and tile entire coding region of the RPE65 gene was amplified by polymerase chain reaction. We then deterrnined the sequence of RPE65 using ABI 3100 Genetic Analyzer. Results： Our study identified that only 1 out of the 52 patients with LCA carried the previously unreported homozygosis missense mutation c1174A〉C （T392P） of the RPE65 gene. However, the mutation was associated with the disease phenotype and not detected in 100 normal controls. Conclusions： Though we identified a novel missense mutation in the RPE65 gene that causes LCA, our result indicates that RPE65 mutations may not play a major role in the LCA patients in China since only 1 out of the 52 patients carried mutation in the RPE65 gene.Background： Leber congenital anaaurosis （LCA） is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16% of all cases of LCA. This study aimed to identify RPE65 gene mutations in Chinese patients with LCA. Methods： We recruited 52 sporadic patients from Peking University Third Hospital in 2016 and applied Sanger sequencing to identil＇y variants among exons responsible for the disease. The genomic DNAs from blood leukocytes of these patients were isolated, and tile entire coding region of the RPE65 gene was amplified by polymerase chain reaction. We then deterrnined the sequence of RPE65 using ABI 3100 Genetic Analyzer. Results： Our study identified that only 1 out of the 52 patients with LCA carried the previously unreported homozygosis missense mutation c1174A〉C （T392P） of the RPE65 gene. However, the mutation was associated with the disease phenotype and not detected in 100 normal controls. Conclusions： Though we identified a novel missense mutation in the RPE65 gene that causes LCA, our result indicates that RPE65 mutations may not play a major role in the LCA patients in China since only 1 out of the 52 patients carried mutation in the RPE65 gene.

关 键 词：Leber Congenital Amaurosis MUTATION RPE65 

分 类 号：R0[医药卫生]