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《Acta Academiae Medicine Militaris Tertiae》 2002-01
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Molecular study on rhodopsin gene point mutations in retinitis pigmentosa

ZHANG Xiao li, FU Wei ling, XUE Qiang, ZHANG Xue (Department of Clinical Laboratories, Southwest Hospital, Third Military Medical University, Chongqing 400038, China)  
Objective To evaluate the patterns and significance of rhodopsin(RHO) gene mutations in Chinese patients with retinitis pigmentosa (RP). Methods Conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing were employed to detect point mutations occurring in the 5 coding exons and splice sites of rhodopsin gene in 98 subjected patients with RP. Results Four patients of one autosomal dominant RP (ADRP) family were found to have a missense mutation at codon 347, Pro347Leu. One late onset RP patient and her daughter, who had no clinical expressions at present, were discovered to have a novel frameshift mutation at codon 327, Pro327 with only one base loss. None of the 2 mutations was found in 100 normal controls. Ala299Ser was found in one patient as missense mutation. Two control subjects also had Ala299Ser, suggesting its nonpathogenicity and just single nucleotide polymophism (SNP). Conclusion Since 2 out of 98 RP patients have rhodopsin mutations, the frequency of RHO mutations in RP might be about 2.0% (95% confidence interval 0.2%~7.0%). A highly conserved C terminal sequence QVS(A)PA is altered due to Pro347Leu and thereby rhodopsin is misdirected to an incorrect subcellular location. Loss of all phosphorylation sites at the C terminus and the highly conserved sequence QVS(A)PA may occur because of Pro327. To elucidate the predominant biochemical defects in such mutant, the study of transgenic mice and transfected culture cells carrying Pro327(1 bp del) is of great value.
【CateGory Index】: R394.3;R774.13
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【References】
Chinese Journal Full-text Database 1 Hits
1 GUAN Tao,MA Zhang-wei,DING Shi-ping.Department of Ophthalmology,Jiaojiang Eye Hospital,Taizhou Municipal Hospital,Taizhou 318000,China;Screening for mutation in rhodopsin gene among Chinese sporadic retinitis pigmentosa[J];Chinese Journal of Ophthalmology and Otorhinolaryngology;2008-06
【Co-references】
Chinese Journal Full-text Database 5 Hits
1 Wei-Ning Rong, Xun-Lun Sheng, Wen-Juan Zhuang 1Department of Ophthalmology, Ningxia Medical College, Yinchuan 750001, Ningxia Hui Autonomus Region, China; 2Department of Ophthalmology, the First People's Hospital of Economic and Technical Development Zone, Qingdao 266555, Shangdong Province, China;Analysis of the mutations of rhodopsin gene in autosomal dominant retinitis pigmentosa family[J];International Journal of Ophthalmology;2006-05
2 Zhuang Wenjuan,Deng Dajun,Sheng Xunlun,Li Zili,Mei Huixiang,Ha Lingfang.Affiliated Hospital of Ningxia Medical College,Yinchuan 750004,China;Mutation analysis of rhodopsin gene in Chinese with autosomal dominant retinitis pigmentosa[J];Chinese Ophthalmic Research;2006-04
3 LIU Jing*, XIAO Lin, WANG Wei.*Department of Ophthalmology, Ninth Medical College of Beijing University, Beijing 100038,China;Analysis of the mutation of rhodopsin gene in an inbreeding family with autosomal recessive retinitis pigmentosa[J];Chinese Journal of Ocular Fundus Diseases;2004-03
4 XIONG Shihong, ZHAO Kanxing, WANG Li, WANG Lejin, CUI Yun, CHEN Weiying, WANG Liming, WANG Qing Tianjin Eye Hospital and Tianjin Eye Institute, Tianjin 300040, China Corresponding author: XIONG Shihong (Email:xsh@163.net);A novel rhodopsin E341ter mutation in patients with retinitis pigmentosa and corresponding clinical phenotype[J];Chinese Journal of Ophthalmology;2002-04
5 WANG Dan-yi, FAN Bao-jian, CHAN Wai-man, TAM Oi-sin, CHIANG Wai-yee, LAM Shun-chiu, PANG Chi-pui. Department of Ophthalmology & Visual Sciences, the Chinese University of Hongkong, Hongkong, China;Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hongkong[J];National Medical Journal of China;2005-23
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