Mutations in RPGR and RP2 of Chinese Patients with X-Linked Retinitis Pigmentosa

被引：18

作者：

Ji, Yanli ^{[1
]}

Wang, Juan ^{[1
]}

Xiao, Xueshan ^{[1
]}

Li, Shiqiang ^{[1
]}

Guo, Xiangming ^{[1
]}

Zhang, Qingjiong ^{[1
]}

机构：

[1] Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R China

来源：

CURRENT EYE RESEARCH | 2010年 / 35卷 / 01期

关键词：

Mutation; Phenotye; Retinitis pigmentosa; RP2; RPGR; NUCLEOTIDE-EXCHANGE FACTOR; RETINAL DEGENERATION; POSITIONAL CLONING; GENE; PROTEIN; FAMILIES; RPGR-ORF15; GENOTYPE; IDENTIFICATION; PHENOTYPES;

D O I：

10.3109/02713680903395299

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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_1053de1) 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.

引用

页码：73 / 79

页数：7

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