【参考文献】 1 Logsdon JM. The recent origins of spliceosomal introns revisited. Curr Opin Gena Dev ,1998;8(6):637- 648
2 Lynch M, Richardson AO. The evolution of spliceosomal introns. Curr Opin Genet Dev ,2002;12:701-710
3 Sharp PA. Five easy pieces. Science ,1991;254:663
4 Roy SW, Nosaka M, de Souza SJ. Centripetal modules and ancient introns. Gene ,1999;238:85-91
5 Fedorov A, Merican AF, Gilbert W. Large scale comparison of intron positions among animal,plant, and fungal genes.Proc Natl Acad Sci USA ,2002;99:16128-16133
6 Bhattacharyya N, Banerjee D. Tanscriptional regulatory sequences within the first intron of the chicken apolipoprotein AI(apoAI) gene. Gene ,1999;234(2):371-380
7 Clement JQ, Wilkinson MF. Rapid induction of nuclear transcripts and inhibition of intron decay in response to the polymerase Ⅱinhibitor DRB. J Mol Biol ,2000;299(5):1179-1191
8 Mattick JS. lntrons:evolution and function. Curr Opin Genet Dev ,1994;4(6):823-831
9 MILOL D. The oligodendrocyte-myelin glycoprotein of mouse: primary structure and gene strcture. Genomics ,1993;17:604-610
10 BREITBART RE. Intricate combinatorial patterns of exon splicing generated multiple regulated troponin T isoforms from a single gene. Cell ,1985;41:67-82
11 Howe, Kenneth James. Ares, Manuel, Jr. Intron self-complementarity enforces exon inclusion in a yeast pre-mRNA. Proc Nat Acad Sci ,1997;94(23):12467-12472
12 张馨方,盛迅伦.视网膜色素变性的相关基因研究进展.国际眼科杂志,2006;6(3):654-657
13 庄文娟,邓大君,盛迅伦,李自立,梅慧香,哈玲芳.常染色体显性遗传RP患者视紫红质基因突变的检测分析.眼科研究,2006;24(4):248-251
14 Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell , 2001; 8:375-381
15 Xu SY, Rosenberg T, Gal A. Refined genetic mapping of autosomal dominant retinitis pigmentosa locus Rp18 reduces the critical region to 2 cM between D1S442 and D1A2858 on chromosome 1q. Hum Gent ,1998;102(4): 493-494
16 Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Mutations in HPRP3, a third member of Pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet .2002;11:87-92
17 Kojis TL, Heinzmann C, Flodman P, Ngo JT, Sparkes RS, Spence MA, Bateman JB, Heckenlively JR.Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa. Am J Hum Genet ,1996;58:347-355
18 McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJC, Greenberg J, Ramesar RS, Hoyng CB, Cremers FPM, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. Mutations in the Pre- mRNA splicing factor genes PRPC8 in autosomal dominant retinitis pigmentosa(RP13). Hum Mol Genet ,2001;10:1555-1562
19 席兴华,郑多,夏昆,潘乾,刘征,唐朝珍,夏家辉,姜德咏,邓汉湘.视网膜色素变性PRPF31基因基因剪接位点突变及其相关表型特征研究.中华眼科杂志,2005;41(11):1020-1026
20 陆莎莎,赵晨,崔云,李宁东,张秀梅,赵堪兴.我国常染色体显性遗传视网膜色素变性家系中PRPF31基因新的剪切位点突变.中华眼科杂志,2005;41(4):305-311
21 Mclaughlin ME, Sandbetg MA, Berson EL. Recessive mutation in the gene encoding the beta-subunit of rod phosphodiesterase in patient with retinitis pigmentosa. Nature Genet ,1993;4:130-134
22 Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, Sullivan LS. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Molecular Vision ,2003;9:129-137
23 Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP. Clinical Features and Mutations in Patients with Dominant Retinitis Pigmentosa-1(RP1).IVOS ,2001;42(10):2217-2224
24 陈翠敏,府伟灵,张晓莉.X连锁型视网膜色素变性的分子遗传学研究进展.国际检验医学杂志,2006,27(3):227-229
25 Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF. Mutational hot spot within a new RPGR exonin X-linked retinitis pigmentosa. Nature Genet ,2000;25:462-466
26 Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. Europ J Hum Genet ,1999;7:687-694
27 Li Y, Dong B, Hu AL, Cui TT, Zheng YY. A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa. Chin J Med Genet , 2005;22((4):396-398
28 王丹艺,范宝剑,陈伟民,谭霭仙,蒋蔚宜,林顺潮,彭智培.香港地区汉族人视紫红质基因和视网膜色素变性1基因与视网膜色素变性的双基因关联分析.中华医学杂志,2005;85(23):1613-1617
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