Molecular biology has been integrated into ophthalmology remarkably well because it promotes an accurate diagnosis and the development of front-line treatments. In the past ten years, next generation sequencing, including variant technologies, has been developed and clinically adopted because of its cost-efficiency and high throughput. In this context, we mainly describe its properties, strengths and weaknesses, with an emphasis on and a perspective of its usefulness in inherited eye disorders.
金子兵. 新一代基因测序技术有力推动分子眼科学发展[J]. 中华眼视光学与视觉科学杂志, 2016, 18(1): 5-7.
Jin Zibing. Next generation sequencing in genetic eye diseases . Chinese Journal of Optometry Ophthalmology and Visual science, 2016, 18(1): 5-7. DOI: DOI:10.3760/cma.j.issn.1674-845X.2016.01.002
Margulies M, Egholm M, Altman WE, et al. Genome sequencing in microfabricated high-density picolitre reactors[J]. Nature,2005, 437(7057):376-380.
[2]
Smith DR, Quinlan AR, Peckham HE, et al. Rapid whole-genome mutational profiling using next-generation sequencing technologies[J]. Genome Res,2008,18(10):1638-1642. DOI:10.1101/gr.077776. 108.
[3]
Bentley DR, Balasubramanian S, Swerdlow HP, et al. Accurate whole human genome sequencing using reversible terminator chemistry[J]. Nature,2008,456(7218):53-59.
[4]
Shendure J, Ji H. Next-generation DNA sequencing[J]. Nat Biotechnol,2008,26(10):1135-1145.
[5]
Wheeler DA, Srinivasan M, Egholm M, et al. The complete genome of an individual by massively parallel DNA sequencing[J]. Nature,2008,452(7189):872-876.
[6]
Boers SA, van der Reijden WA, et al. High-throughput multilocus sequence typing: bringing molecular typing to the next level[J]. PLoS One,2012,7(7):e39630. DOI:10.1371/journal.pone.0039630.
[7]
Ran X, Cai WJ, Huang XF, et al. ′RetinoGenetics′: a comprehensive mutation database for genes related to inherited retinal degeneration[J]. Database (Oxford),2014,2014.bau047. DOI:10.1093/database/bau047.
[8]
Jin M, Li S, Moghrabi WN, et al. Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium[J]. Cell,2005, 122(3):449-459. DOI:10.1016/j.cell.2005.06.042.
[9]
Verhoeven VJ, Hysi PG, Wojciechowski R, et al. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia[J]. Nat Genet, 2013,45(3):314-318. DOI:10.1038/ng.2554.
[10]
Huang B, He W. Molecular characteristics of inherited congenital cataracts[J]. Eur J Med Genet,2010,53(6):347-357. DOI:10.1016/j.ejmg.2010.07.001.
[11]
Jin ZB, Huang XF, Lv JN, et al. SLC7A14 linked to autosomal recessive retinitis pigmentosa[J]. Nat Commun,2014,5:3517. DOI: 10.1038/ncomms4517.
[12]
Chen Y, Lin Y, Vithana EN, et al. Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma[J]. Nat Genet,2014,46(10):1115-1119. DOI:10.1038/ng.3078.
[13]
MacLaren RE, Groppe M, Barnard AR, et al. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial[J]. Lancet,2014,383(9923):1129-1137. DOI:10.1016/S0140-6736(13)62117-0.