RPGR 和 RP2 基因突变导致的中国人 X 连锁型视网膜炎色素变性。
Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
机构信息
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, PR China.
出版信息
Curr Eye Res. 2010 Jan;35(1):73-9. doi: 10.3109/02713680903395299.
PURPOSE
To identify mutations in the RPGR and RP2 genes from Chinese families with X-linked retinitis pigmentosa (XLRP).
MATERIALS AND METHODS
DNA fragments-encompassing coding exons and adjacent intronic regions of RPGR and RP2-were analyzed by cycle sequencing.
RESULTS
Three mutations (ORF15 + 483_484delGA, ORF15 + 652_653delAG, and ORF15 + 650_653delAGAG) in RPGR were identified in four families with XLRP, while two mutations (c.353G>A and c.103_1053del) in RP2 were detected in two families with retinitis pigmentosa (RP) and high myopia.
CONCLUSIONS
Our results expand the frequency and spectrum of mutations at RPGR and RP2 as well as their associated clinical phenotypes in Chinese patients.
目的
从伴有 X 连锁性视网膜炎色素变性（XLRP）的中国家系中鉴定 RPGR 和 RP2 基因的突变。
材料与方法
通过循环测序对 RPGR 和 RP2 的编码外显子和相邻内含子区域的 DNA 片段进行分析。
结果
在四个 XLRP 家系中发现了 RPGR 中的三个突变（ORF15+483_484delGA、ORF15+652_653delAG 和 ORF15+650_653delAGAG），而在两个伴有视网膜炎色素变性（RP）和高度近视的家系中发现了 RP2 中的两个突变（c.353G>A 和 c.103_1053del）。
结论
我们的结果扩展了中国患者中 RPGR 和 RP2 基因突变及其相关临床表型的频率和谱。
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