发展中的我国基础优生学
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摘要
<正>优生学(eugenics;healthy birth;yousheng)是医学的一个主要分支学科。按照现代医学的定义,狭义的优生学是指通过一些医学手段,减少遗传病和出生缺陷发生的生产;而广义的优生学指从孕前着手,避免孕前、孕期任何对于胚胎不利因素的暴露,尽可能保证健康胎儿出生的生产[1]。这与"优生学之父"Francis Galton(1822-1911)于1883年最初提出的优生学概念有着很大的区别。智慧先贤Galton给出的优生学定义是:一种通过理智的婚姻,以及其他各种能够促进优良的血统有更好繁衍机会的方法来改良人类血统的科学;后来又修改为:"优生学是研究在社会的控制下,为改善或削弱某些种族的后代的体格和智力素
引文
[1]医学名词审定委员会全科医学与社区卫生名词审定分委员.全科医学与社区卫生名词.北京:科学出版社,2014.
[2]李崇高.优生学的历史回顾与展望[J].遗传与优生,1982,(1):14-20.
[3]蒋功成.淑种之求:优生学在中国近代的传播及其影响[M].上海:上海交通大学出版社,2014.
[4]Galton F. Essaysin Eugenics. London:The Eugenics Education Society,1909.
[5]Levine P. Eugenics:A Very Short Introduction[M]. Oxford University Press,2017.
[6]吴旻.关于优生学在中国近代的传播及其影响[J].遗传,1980,2(3):40-42.
[7]Lombardo PA.The power of heredity and the relevance of eugenic history[J]. Genet Med,2018,20(11):1305-1311.
[8]Zhang X-N,Zuo Ji. Chapter 9 Genetic Disorders in Chinese Patients and Their Families:A Call for Action on Predictive Medicine.In Gadebusch Bondio M.,Sporing F,Gordon J-S eds. Medical Ethics,Prediction,and Prognosis:Interdisciplinary Perspectives.New York:Routledge,2017,p121-130.
[9]阮芳赋.优生学的学科性质和学科体系[J].医学与哲学,1982,(7):14-16.
[10]吴刚,伦玉兰.中国优生科学[M].北京:科学技术文献出版社,2000.
[11]杨焕明.基因组学2016[M].北京:科学出版社,2016.
[12]Collins FS,Varmus H. A new initiative on precision medicine[J].N Engl J Med,2015,372(9):793-795.
[13]Shendure J,Findlay GM,Snyder MW. Genomic medicineprogress,pitfalls,and promise[J]. Cell. 2019,177(1):45-57.
[14]陈竺,主编.医学遗传学[M].第3版.北京:人民卫生出版社,2015.
[15]Subramanian G,Adams MD,Venter JC,Broder S. Implications of the human genome for understanding human biology and medicine[J].JAMA,2001,286(18):2296-2307.
[16]Portela A,Esteller M. Epigenetic modifcations and human disease[J].Nat Biotechnol,2010,28(10):1057-1068.
[17]Bellver J,Mundi M,Esteban FJ,et al.'-omics'technology and human reproduction:reproductomics[J].Expert Rev Obstet Gynecol,2012,7(5):493-506.
[17]邬玲仟,张学,主编.医学遗传学[M].第2版.北京:人民卫生出版社,2019.
[19]Vermeesch JR,Voet T,Devriendt K.Prenatal and pre-implantation genetic diagnosis[J].Nat Rev Genet,2016,17(10):643-656.
[20]Knowles JW,Rader DJ,Khoury MJ. Cascade screening for familial hypercholesterolemia and the use of genetic testing[J].JAMA,2017,318(4):381-382.
[21]Adams DR,Eng CM. Next-generation sequencing to diagnose suspected genetic disorders[J].N Engl J Med,2018,379(14):1353-1362.
[22]Wright CF,FitzPatrick DR,Firth HV.Paediatric genomics:diagnosing rare disease in children[J].Nat Rev Genet,2018,19(5):253-268.
[23]Fan HC,Gu W,Wang J,et al. Non-invasive prenatal measurement of the fetal genome[J].Nature,2012,487(7407):320-324.
[24]Committee on Genetics. ACOG Technology Assessment in Obstetrics and Gynecology No. 14:Modern genetics in obstetrics and gynecology[J].Obstet Gynecol,2018,132(3):e143-e168.
[25]Skotko BG,Allyse MA,Bajaj K,et al.Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations[J].Genet Med,2019 Apr 3. doi:10.1038/s41436-019-0485-2.[Epub ahead of print]
[26]李崇高.潘光旦优生思想研究——纪念我国优生学家潘光旦诞辰100周年[J].中国优生与遗传杂志,1999,7(6):1-3.
[27]左伋,张咸宁,刘雯,等.借力“健康中国”国家战略,鼎力发展优生科学事业[J].中国优生与遗传杂志,2016,24(12):1-2.
[28]陈文.染色质的性别鉴定法及其临床应用[J].中华妇产科杂志,1957,5(5):366-372.
[29]项维,朱定良,吕曼俐,刘祖洞.中国人的染色体组型(初报)[J].科学通报,1962,(6):41-42.
[30]Lo WH.Prospect of medical genetics in China from a historical point of view[J].Chin Med Sci J,2008,23(2):65-67.
[31]苏祖斐,周焕庚,孙庆懿,等.先天愚型及其染色体研究[J].中华儿科杂志,1963,12(4):219-221.
[32]杜传书.蚕豆病病因发病机制研究[J].中华医学杂志,1963,49(11):725-731.
[33]汪安琦,周宪庭.人体白血细胞在体外受X射线照射后的染色体畸变[J].实验生物学报,1964,9(2):178-184,219.
[34]吴文彦,黄淑帧,宋杰,等.两个新型的血红蛋白M[J].科学通报,1965,(5):443-446.
[35]吴旻,凌丽华.中国人的有丝分裂染色体组型[J].解剖学报,1966,9(3):326-340.
[36]Department of Obstetrics and Gynecology,Tietung Hospital of Anshan Iron and Steel Company,Anshan. Fetal sex prediction by sex chromatin of chorionic villi cells during early pregnancy[J].Chin Med J(Engl),1975,1(2):117-126.
[37]刘权章.遗传咨询[J].哈医大学报,1976,(4):56-65.
[38]谈家桢,赵功民.中国遗传学史[M].上海:上海科技教育出版社,2002.
[39]夏家辉,卢惠霖.一条与人体鼻咽癌相关的标记染色体及其由来的初步探讨[J].遗传学报,1978,5(1):19-22,91.
[40]周宪庭,汤火顺,李锦霞,等.遗传疾病的产前诊断[J].遗传学报,1979,6(1):133-133.
[41]吴旻.关于优生学[J].遗传,1980,2(3):40-42.
[42]吴旻.优生学漫谈[M].遗传与优生,1883,(1):14-22.
[43]计雪文,郑世彬,李大钧,等.从用外周血细胞染色体诊断染色体疾病的结果,看有可能出生前诊断先天愚型、先天性畸形和先天性不孕症[J].第三军医大学学报,1980,(2):44-48.
[44]刘慎如.新生儿苯酮尿症Guthrie氏过筛试验:1284例小结[J].北京医学院学报,1982,14(1):53-56.
[45]陈瑞冠,陈蕙英,石树中,等.新生儿三种代谢病筛查——上海地区初步报告[J].上海医学,1983,6(6):344-347.
[46]杨永范,许由恩,刘道宽,等. 44例肝豆状核变性患者及其亲属的铜代谢生化分析[J].上海第一医学院学报,1983,10(6):435-442.
[47]吴冠芸,张俊武,王申五,等.重组质粒pRBoαⅠ在探测人α-珠蛋白基因中的应用[J].中国医学科学院学报,1983,5(5):275-279.
[48]Huang S,Wong C,Antonarakis SE,et al. The same′TATA′box beta-thalassemia mutation in Chinese and U.S. blacks:another example of independent origins of mutation[J].Hum Genet,1986,74(2):162-164.
[49] Harper PS. Editorial. J Med Genet,1987,24(10):577-577.
[50]张丽珠,刘斌,李美芝,等.试管婴儿及GIFT婴儿诞生[J].北京医科大学学报. 1988,20(4):241-242,324-325.
[51]Chen Z,Brand NJ,Chen A,et al. Fusion between a novel Krüppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11,17)translocation associated with acute promyelocytic leukaemia[J]. EMBO J,1993,12(3):1161-1167.
[52]薛京伦,卢大儒,周洁民,等.成纤维细胞基因治疗血友病B的临床Ⅰ期试验[J].中国科学(B辑化学生命科学地学),1993,23(1):53-60.
[53]杜传书主编.医学遗传学[M].第3版.北京:人民卫生出版社,2014.
[54]Xia JH,Liu CY,Tang BS,et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment[J]. Nat Genet,1998,20(4):370-373.
[55]Shen Y,Xu Q,Han Z,et al. Analysis of phenotype-genotype connection:the story of dissecting disease pathogenesis in genomic era in China,and beyond[J]. Philos Trans R Soc Lond B Biol Sci,2007,362(1482):1043-1061.
[56]Guo F,Yan L,Guo H,et al. The transcriptome and DNA methylome landscapes of human primordial germ cells[J]. Cell,2015,161(6):1437-1452.
[57]Li L,Guo F,Gao Y,et al. Single-cell multi-omics sequencing of human early embryos[J]. Nat Cell Biol,2018,20(7):847-858.
[58]黄荷凤.当生殖医学遇上大数据[J].中国实用妇科与产科杂志.2018,34(1):5-9.
[59]Wei D,Liu JY,Sun Y,et al.Frozen versus fresh single blastocyst transfer in ovulatory women:a multicentre,randomised controlled trial[J].Lancet,2019,393(10178):1310-1318.
[60]Horvat M. Reform and cooperation in China. Science[J]. 2018,362(6416):727-727.
[61]Wu Y,Yin D,Abbasi K. China's medical research revolution[J].BMJ. 2018,360:k547.
[2]李崇高.优生学的历史回顾与展望[J].遗传与优生,1982,(1):14-20.
[3]蒋功成.淑种之求:优生学在中国近代的传播及其影响[M].上海:上海交通大学出版社,2014.
[4]Galton F. Essaysin Eugenics. London:The Eugenics Education Society,1909.
[5]Levine P. Eugenics:A Very Short Introduction[M]. Oxford University Press,2017.
[6]吴旻.关于优生学在中国近代的传播及其影响[J].遗传,1980,2(3):40-42.
[7]Lombardo PA.The power of heredity and the relevance of eugenic history[J]. Genet Med,2018,20(11):1305-1311.
[8]Zhang X-N,Zuo Ji. Chapter 9 Genetic Disorders in Chinese Patients and Their Families:A Call for Action on Predictive Medicine.In Gadebusch Bondio M.,Sporing F,Gordon J-S eds. Medical Ethics,Prediction,and Prognosis:Interdisciplinary Perspectives.New York:Routledge,2017,p121-130.
[9]阮芳赋.优生学的学科性质和学科体系[J].医学与哲学,1982,(7):14-16.
[10]吴刚,伦玉兰.中国优生科学[M].北京:科学技术文献出版社,2000.
[11]杨焕明.基因组学2016[M].北京:科学出版社,2016.
[12]Collins FS,Varmus H. A new initiative on precision medicine[J].N Engl J Med,2015,372(9):793-795.
[13]Shendure J,Findlay GM,Snyder MW. Genomic medicineprogress,pitfalls,and promise[J]. Cell. 2019,177(1):45-57.
[14]陈竺,主编.医学遗传学[M].第3版.北京:人民卫生出版社,2015.
[15]Subramanian G,Adams MD,Venter JC,Broder S. Implications of the human genome for understanding human biology and medicine[J].JAMA,2001,286(18):2296-2307.
[16]Portela A,Esteller M. Epigenetic modifcations and human disease[J].Nat Biotechnol,2010,28(10):1057-1068.
[17]Bellver J,Mundi M,Esteban FJ,et al.'-omics'technology and human reproduction:reproductomics[J].Expert Rev Obstet Gynecol,2012,7(5):493-506.
[17]邬玲仟,张学,主编.医学遗传学[M].第2版.北京:人民卫生出版社,2019.
[19]Vermeesch JR,Voet T,Devriendt K.Prenatal and pre-implantation genetic diagnosis[J].Nat Rev Genet,2016,17(10):643-656.
[20]Knowles JW,Rader DJ,Khoury MJ. Cascade screening for familial hypercholesterolemia and the use of genetic testing[J].JAMA,2017,318(4):381-382.
[21]Adams DR,Eng CM. Next-generation sequencing to diagnose suspected genetic disorders[J].N Engl J Med,2018,379(14):1353-1362.
[22]Wright CF,FitzPatrick DR,Firth HV.Paediatric genomics:diagnosing rare disease in children[J].Nat Rev Genet,2018,19(5):253-268.
[23]Fan HC,Gu W,Wang J,et al. Non-invasive prenatal measurement of the fetal genome[J].Nature,2012,487(7407):320-324.
[24]Committee on Genetics. ACOG Technology Assessment in Obstetrics and Gynecology No. 14:Modern genetics in obstetrics and gynecology[J].Obstet Gynecol,2018,132(3):e143-e168.
[25]Skotko BG,Allyse MA,Bajaj K,et al.Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations[J].Genet Med,2019 Apr 3. doi:10.1038/s41436-019-0485-2.[Epub ahead of print]
[26]李崇高.潘光旦优生思想研究——纪念我国优生学家潘光旦诞辰100周年[J].中国优生与遗传杂志,1999,7(6):1-3.
[27]左伋,张咸宁,刘雯,等.借力“健康中国”国家战略,鼎力发展优生科学事业[J].中国优生与遗传杂志,2016,24(12):1-2.
[28]陈文.染色质的性别鉴定法及其临床应用[J].中华妇产科杂志,1957,5(5):366-372.
[29]项维,朱定良,吕曼俐,刘祖洞.中国人的染色体组型(初报)[J].科学通报,1962,(6):41-42.
[30]Lo WH.Prospect of medical genetics in China from a historical point of view[J].Chin Med Sci J,2008,23(2):65-67.
[31]苏祖斐,周焕庚,孙庆懿,等.先天愚型及其染色体研究[J].中华儿科杂志,1963,12(4):219-221.
[32]杜传书.蚕豆病病因发病机制研究[J].中华医学杂志,1963,49(11):725-731.
[33]汪安琦,周宪庭.人体白血细胞在体外受X射线照射后的染色体畸变[J].实验生物学报,1964,9(2):178-184,219.
[34]吴文彦,黄淑帧,宋杰,等.两个新型的血红蛋白M[J].科学通报,1965,(5):443-446.
[35]吴旻,凌丽华.中国人的有丝分裂染色体组型[J].解剖学报,1966,9(3):326-340.
[36]Department of Obstetrics and Gynecology,Tietung Hospital of Anshan Iron and Steel Company,Anshan. Fetal sex prediction by sex chromatin of chorionic villi cells during early pregnancy[J].Chin Med J(Engl),1975,1(2):117-126.
[37]刘权章.遗传咨询[J].哈医大学报,1976,(4):56-65.
[38]谈家桢,赵功民.中国遗传学史[M].上海:上海科技教育出版社,2002.
[39]夏家辉,卢惠霖.一条与人体鼻咽癌相关的标记染色体及其由来的初步探讨[J].遗传学报,1978,5(1):19-22,91.
[40]周宪庭,汤火顺,李锦霞,等.遗传疾病的产前诊断[J].遗传学报,1979,6(1):133-133.
[41]吴旻.关于优生学[J].遗传,1980,2(3):40-42.
[42]吴旻.优生学漫谈[M].遗传与优生,1883,(1):14-22.
[43]计雪文,郑世彬,李大钧,等.从用外周血细胞染色体诊断染色体疾病的结果,看有可能出生前诊断先天愚型、先天性畸形和先天性不孕症[J].第三军医大学学报,1980,(2):44-48.
[44]刘慎如.新生儿苯酮尿症Guthrie氏过筛试验:1284例小结[J].北京医学院学报,1982,14(1):53-56.
[45]陈瑞冠,陈蕙英,石树中,等.新生儿三种代谢病筛查——上海地区初步报告[J].上海医学,1983,6(6):344-347.
[46]杨永范,许由恩,刘道宽,等. 44例肝豆状核变性患者及其亲属的铜代谢生化分析[J].上海第一医学院学报,1983,10(6):435-442.
[47]吴冠芸,张俊武,王申五,等.重组质粒pRBoαⅠ在探测人α-珠蛋白基因中的应用[J].中国医学科学院学报,1983,5(5):275-279.
[48]Huang S,Wong C,Antonarakis SE,et al. The same′TATA′box beta-thalassemia mutation in Chinese and U.S. blacks:another example of independent origins of mutation[J].Hum Genet,1986,74(2):162-164.
[49] Harper PS. Editorial. J Med Genet,1987,24(10):577-577.
[50]张丽珠,刘斌,李美芝,等.试管婴儿及GIFT婴儿诞生[J].北京医科大学学报. 1988,20(4):241-242,324-325.
[51]Chen Z,Brand NJ,Chen A,et al. Fusion between a novel Krüppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11,17)translocation associated with acute promyelocytic leukaemia[J]. EMBO J,1993,12(3):1161-1167.
[52]薛京伦,卢大儒,周洁民,等.成纤维细胞基因治疗血友病B的临床Ⅰ期试验[J].中国科学(B辑化学生命科学地学),1993,23(1):53-60.
[53]杜传书主编.医学遗传学[M].第3版.北京:人民卫生出版社,2014.
[54]Xia JH,Liu CY,Tang BS,et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment[J]. Nat Genet,1998,20(4):370-373.
[55]Shen Y,Xu Q,Han Z,et al. Analysis of phenotype-genotype connection:the story of dissecting disease pathogenesis in genomic era in China,and beyond[J]. Philos Trans R Soc Lond B Biol Sci,2007,362(1482):1043-1061.
[56]Guo F,Yan L,Guo H,et al. The transcriptome and DNA methylome landscapes of human primordial germ cells[J]. Cell,2015,161(6):1437-1452.
[57]Li L,Guo F,Gao Y,et al. Single-cell multi-omics sequencing of human early embryos[J]. Nat Cell Biol,2018,20(7):847-858.
[58]黄荷凤.当生殖医学遇上大数据[J].中国实用妇科与产科杂志.2018,34(1):5-9.
[59]Wei D,Liu JY,Sun Y,et al.Frozen versus fresh single blastocyst transfer in ovulatory women:a multicentre,randomised controlled trial[J].Lancet,2019,393(10178):1310-1318.
[60]Horvat M. Reform and cooperation in China. Science[J]. 2018,362(6416):727-727.
[61]Wu Y,Yin D,Abbasi K. China's medical research revolution[J].BMJ. 2018,360:k547.