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Analysis of the mutation of rhodopsin gene in an inbreeding family with autosomal recessive retinitis pigmentosa
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF OCULAR FUNDUS DISEASES
- Issue:
- 3
- DOI:
- 10.3760/j.issn:1005-1015.2004.03.005
- Key Word:
- 视网膜炎,色素变性;近亲繁殖;视紫质;DNA突变分析
Abstract： 目的观察一个近亲婚配常染色体隐性遗传视网膜色素变性(ARRP)家系中视紫红质基因(RHO)的突变特征,并探讨其视网膜色素变性(RP)发病机制.方法抽取8例该ARRP家系成员及10例正常对照者的外周静脉血5～8 ml;提取基因组DNA;采用聚合酶链反应(PCR)方法扩增RHO基因第1～5外显子和第1内含子基因片段,用直接DNA测序法筛查RHO基因突变.结果来自同一家系3例患者RHO基因的第5外显子第344密码子发生了A→G碱基的错义突变,导致了谷氨酰胺变成了精氨酸(Gln344Arg),3例患者为该突变的纯合子.患者近亲婚配父母及1例未患病家庭成员为该突变的杂合子.2例未患病家庭成员及10例正常对照者均未发现RHO基因突变. 结论Gln344Arg突变可能是该ARRP家系的致病原因;在近亲婚配ARRP家系中RHO基因突变频率可能增加.
- [1]熊世红,赵堪兴,王立,等.视网膜色素变性患者视紫红质E341ter基因突变及临床表型分析[J].2002,(4).
- [2]Dryja, T.P.,McGee, T.L..A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.[J].1990,343(6256).
- [3]Samuel G. Jacobson,Colin M. Kemp,Ching-Hwa Sung,etc.Retinal Function and Rhodopsin Levels in Autosomal Dominant Retinitis Pigmentosa With Rhodopsin Mutations[J].1991,112(3).
- [4]M, Dikshit,R, Agarwal.Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients.[J].2001,80(2).
- [5]M F, Goldberg.Molecular heterogeneity in retinitis pigmentosa. More mutations.[J].1994,15.
- [6](美)萨姆布鲁克(Sambrook,J.)等著 金冬雁.分子克隆实验指南[M].1992.
- [7]C. Ayuso,B. Garcia-Sandoval,C. Najera,etc.Retinitis pigmentosa in Spain[J].1995,48(3).
- [8]Dryja TP,Berson EL,McGee TL,etc.Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa.[J].2000,41(10).
- [9]T P, Dryja,T L, McGee,L B, Hahn,etc.Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.[J].1990,323.
- [10]L I, van den Born,M J, van Schooneveld,L A, de Jong,etc.Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family.[J].1994,15(2).
- [11]D I, Papac,J E, Oatis,R K, Crouch,etc.Mass spectrometric identification of phosphorylation sites in bleached bovine rhodopsin.[J].1993,32(23).
- [12]Colley NJ,Baker EK,Zuker CS,etc.Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration.[J].1995,92(7).
- [13]Hiroshi Ohguro,Krzysztof Palczewski,Lowell H. Ericsson,etc.Sequential phosphorylation of rhodopsin at multiple sites[J].1993,32(21).
- [14]G, Kumaramanickavel,M, Maw,M J, Denton,etc.Missense rhodopsin mutation in a family with recessive RP.[J].1994,8.
- [15]B, Sánchez,S, Borrego,P, Chaparro,etc.A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa.[J].1996,7(2).