基于色盲遗传学教学素材的挖掘及其在教学中应用

doi:10.16288/j.yczz.24-017

遗传 ›› 2024, Vol. 46 ›› Issue (4): 346-354.doi: 10.16288/j.yczz.24-017

• 遗传学教学 • 上一篇

基于色盲遗传学教学素材的挖掘及其在教学中应用

毛春晓()

华东师范大学生命科学学院，上海 200241

收稿日期:2024-01-15 修回日期:2024-02-18 出版日期:2024-04-20 发布日期:2024-03-04
作者简介:毛春晓，博士，讲师，研究方向：表观遗传学。E-mail: cxmao@bio.ecnu.edu.cn.
基金资助:
华东师范大学课程建设项目(40400-22301-512200/001/223)

The construction of genetics teaching resources related to colour blindness and their application in genetics teaching

Chunxiao Mao()

School of Life Sciences, East China Normal University, Shanghai 200241, China

Received:2024-01-15 Revised:2024-02-18 Published:2024-04-20 Online:2024-03-04
Supported by:
Curriculum Construction Project of East China Normal University(40400-22301-512200/001/223)

摘要/Abstract

摘要：

在遗传学课程教学中，红绿色盲是X连锁隐性遗传的典型案例。然而红绿色盲只是比较常见的色觉障碍，还有其他临床分型。不同的色盲遗传方式可能不同，致病基因也不同。近年来，关于色盲的致病基因、分子机制、基因治疗等方面取得了很大进展，相关研究成果可以作为很好的素材在遗传学教学中进行使用。本文阐述了基于色盲的遗传学教学素材的挖掘及其在本校遗传学课程中“绪论”“遗传的细胞和分子基础”“伴性遗传”“染色体畸变”“基因突变”“遗传学进展”等章节教学中的应用。通过课堂教授与问答，辅以课后文献检索与阅读，使学生在更好掌握遗传学基本内容的基础上，能拓宽遗传学学术视野，激发学习兴趣。

关键词: 色盲, 遗传学, 色觉, 伴性遗传, 全色盲

Abstract:

Red-green colour blindness is a classic example for the teaching of X-linked recessive inheritance in genetics course. However, there are lots of types of color vision deficiencies besides red-green colour blindness. Different color vision deficiencies caused by different genes may have different modes of inheritance. In recent years, many research achievements on colour blindness have been made. These achievements could be used as teaching resources in genetics course. Here, we summarize the construction of genetics teaching resources related to colour blindness and their application in genetics teaching in several chapters such as introduction, cellular and molecular basis of genetics, sex-linked inheritance, chromosomal aberration, gene mutation and advances in genetics. Teacher could use the resources in class or after class with different teaching methods such as questioning teaching method and task method. It may expand students’ academic horizons and inspire students' interest in genetics besides grasping basic genetic knowledge.

Key words: colour blindness, genetics, colour vision, sex-linked inheritance, achromatopsia

毛春晓. 基于色盲遗传学教学素材的挖掘及其在教学中应用[J]. 遗传, 2024, 46(4): 346-354.

Chunxiao Mao. The construction of genetics teaching resources related to colour blindness and their application in genetics teaching[J]. Hereditas(Beijing), 2024, 46(4): 346-354.

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参考文献 27

[1]	Simunovic MP, Moore AT. The cone dystrophies. Eye (Lond), 1998, 12(Pt 3b): 553-565. doi: 10.1038/eye.1998.145
[2]	Simunovic MP. Colour vision deficiency. Eye (Lond), 2010, 24(5): 747-755. doi: 10.1038/eye.2009.251
[3]	Solomon SG, Lennie P. The machinery of colour vision. Nat Rev Neurosci, 2007, 8(4): 276-286. pmid: 17375040
[4]	Saari JC. Vitamin A and vision. Subcell Biochem, 2016, 81: 231-259. pmid: 27830507
[5]	Martínez-Domingo MA, Gómez-Robledo L, Valero EM, Huertas R, Hernández-Andrés J, Ezpeleta S, Hita E. Assessment of VINO filters for correcting red-green color vision deficiency. Opt Express, 2019, 27(13): 17954-17967. doi: 10.1364/OE.27.017954 pmid: 31252746
[6]	Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JWR, Rose K, Rosenberg T, Stark Z, Verheij JBGM, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B. De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. Sci Rep, 2016, 6: 28253. doi: 10.1038/srep28253 pmid: 27339364
[7]	Michalakis S, Gerhardt M, Rudolph G, Priglinger S, Priglinger C. Achromatopsia: genetics and gene therapy. Mol Diagn Ther, 2022, 26(1): 51-59. doi: 10.1007/s40291-021-00565-z
[8]	Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk- Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH. Achromatopsia mutations target sequential steps of ATF6 activation. Proc Natl Acad Sci USA, 2017, 114(2): 400-405. doi: 10.1073/pnas.1606387114
[9]	Michalakis S, Becirovic E, Biel M. Retinal cyclic nucleotide-gated channels: from pathophysiology to therapy. Int J Mol Sci, 2018, 19(3): 749. doi: 10.3390/ijms19030749
[10]	Georgiou M, Singh N, Kane T, Robson AG, Kalitzeos A, Hirji N, Webster AR, Dubra A, Carroll J, Michaelides M. Photoreceptor structure in GNAT2-associated achromatopsia. Invest Ophthalmol Vis Sci, 2020, 61(3): 40.
[11]	Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M. The cone dysfunction syndromes. Br J Ophthalmol, 2016, 100(1): 115-121. doi: 10.1136/bjophthalmol-2014-306505 pmid: 25770143
[12]	Delpero WT, O’Neill H, Casson E, Hovis J. Aviation- relevent epidemiology of color vision deficiency. Aviat Space Environ Med, 2005, 76(2): 127-133.
[13]	Nathans J, Thomas D, Hogness DS. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science, 1986, 232(4747): 193-202. doi: 10.1126/science.2937147 pmid: 2937147
[14]	Deeb SS. The molecular basis of variation in human color vision. Clin Genet, 2005, 67(5): 369-377. pmid: 15811001
[15]	Remmer MH, Rastogi N, Ranka MP, Ceisler EJ. Achromatopsia: a review. Curr Opin Ophthalmol, 2015, 26(5): 333-340. doi: 10.1097/ICU.0000000000000189 pmid: 26196097
[16]	Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S. Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Hum Mutat, 2019, 40(8): 1145-1155. doi: 10.1002/humu.23768 pmid: 31058429
[17]	Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet, 2004, 41(2): e20. doi: 10.1136/jmg.2003.011437 pmid: 14757870
[18]	Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FPM, Wissinger B. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet, 2005, 13(3): 302-308. doi: 10.1038/sj.ejhg.5201269
[19]	Smallwood PM, Wang YS, Nathans J. Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genes. Proc Natl Acad Sci USA, 2002, 99(2): 1008-1011. pmid: 11773636
[20]	Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, Klingaman R, Fishman G. Molecular genetics of human blue cone monochromacy. Science, 1989, 245(4920): 831-838. pmid: 2788922
[21]	Kohl S, Hamel C. Clinical utility gene card for: Achromatopsia-update 2013. Eur J Hum Genet, 2013, 21(11): 1-3.
[22]	Mancuso K, Hauswirth WW, Li QH, Connor TB, Kuchenbecker JA, Mauck MC, Neitz J, Neitz M. Gene therapy for red-green colour blindness in adult primates. Nature, 2009, 461(7265): 784-787. doi: 10.1038/nature08401
[23]	Michalakis S, Mühlfriedel R, Tanimoto N, Krishnamoorthy V, Koch S, Fischer MD, Becirovic E, Bai L, Huber G, Beck SC, Fahl E, Büning H, Paquet-Durand F, Zong XG, Gollisch T, Biel M, Seeliger MW. Restoration of cone vision in the CNGA3^-/- mouse model of congenital complete lack of cone photoreceptor function. Mol Ther, 2010, 18(12): 2057-2063. doi: 10.1038/mt.2010.149 pmid: 20628362
[24]	Banin E, Gootwine E, Obolensky A, Ezra-Elia R, Ejzenberg A, Zelinger L, Honig H, Rosov A, Yamin E, Sharon D, Averbukh E, Hauswirth WW, Ofri R. Gene augmentation therapy restores retinal function and visual behavior in a sheep model of CNGA3 achromatopsia. Mol Ther, 2015, 23(9): 1423-1433. doi: 10.1038/mt.2015.114 pmid: 26087757
[25]	Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kuehlewein L, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B. Safety and vision outcomes of subretinal gene therapy targeting cone photoreceptors in achromatopsia: a nonrandomized controlled trial. JAMA Ophthalmol, 2020, 138(6): 643-651. doi: 10.1001/jamaophthalmol.2020.1032 pmid: 32352493
[26]	Chen FG, Li QQ. Research progress in lampbrush chromosome and some suggestions for their use in genetics teaching. Hereditas(Beijing), 2016, 38(2): 170-177.
	陈凡国, 李晴晴. 灯刷染色体的研究进展及其在遗传学教学中的思考. 遗传, 2016, 38(2): 170-177.
[27]	Zhao N, Qi B, Dong QL, Wang XL. The applications of research progress of common wheat in teaching genetics. Hereditas(Beijing), 2020, 42(9): 916-925. doi: 10.16288/j.yczz.20-113 pmid: 32952125
	赵娜, 亓宝, 董芊里, 王晓丽. 普通小麦相关研究进展在遗传学理论教学中的应用. 遗传, 2020, 42(9): 916-925.

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按严重程度划分	类型	参考文献
异常三色视觉 (anomalous trichromacy)	红色弱(protanomaly)	[1]
	绿色弱(deuteranomaly)	[1]
	蓝黄色弱(tritanomaly)	[1]
双色视觉 (dichromacy)	红色盲(protanopia)	[1]
	绿色盲(deuteranopia)	[1]
	蓝黄色盲(tritanopia)	[1]
单色视觉 (monochromacy)	红锥单色视 (red-cone monochromacy)	[2]
	绿锥单色视 (green-cone monochromacy)	[2]
	蓝锥单色视 (blue-cone monochromacy)	[1]
全色盲 (achromatopsia)	视杆细胞单色视 (rod monochromacy)	[1]

基因	基因突变位点	基因突变类型	对应蛋白质变化	参考文献
CNGA3	c.1306C>T	错义突变	p.Arg436Trp	[17]
CNGB3	c.607C>T	无义突变	p.R203X	[18]
CNGB3	c.1148delC	删除突变	p.Thr383Ile fs*13	[18]
CNGB3	c.29_30insA	插入突变	p.K10fsX	[18]
OPN1LW、OPN1MW	上游LCR	缺失突变	缺少红视蛋白和绿视蛋白	[20]

基于色盲遗传学教学素材的挖掘及其在教学中应用

The construction of genetics teaching resources related to colour blindness and their application in genetics teaching

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参考文献 27

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色盲类型	相关基因	染色体位置	参考文献
红色盲	OPN1LW	Xq28	[5]
绿色盲	OPN1MW	Xq28	[5]
蓝黄色盲	OPN1SW	7q32.1	[5]
蓝锥单色视	OPN1LW、OPN1MW	Xq28	[6]
全色盲	CNGA3	2q11.2	[7]
全色盲	CNGB3	8q21.3	[7]
全色盲	GNAT2	1p13.3	[7]
全色盲	PDE6C	10q23.33	[7]
全色盲	PDE6H	12p12.3	[7]
全色盲	ATF6	1q23.3	[7]

色盲类型	遗传方式	发病率	参考文献
红色盲	X连锁隐性遗传	1.01%	[2]
绿色盲	X连锁隐性遗传	1.27%	[2]
蓝黄色盲	常染色体显性遗传	1/500	[2]
蓝锥单色视	X连锁隐性遗传	1/100,000	[2]
全色盲	常染色体隐性遗传	1/30,000	[1]

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