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孟德尔主义与医学:1920年至1960年在地方背景下控制人类遗传

Mendelism and medicine: controlling human inheritance in local contexts, 1920-1960.

作者信息

Gaudillière J P

机构信息

Centre de recherches médecine, science, société (Cermes), Inserm, 182, boulevard de la Villette, 75019 Paris, France.

出版信息

C R Acad Sci III. 2000 Dec;323(12):1117-26. doi: 10.1016/s0764-4469(00)01268-3.

Abstract

The rise of Mendelism has often been associated with the development of agricultural sciences and the attempts to improve varieties and select new plants. In contrast, historians have tended to stress the tensions between Mendelism and medicine originating in the influence of eugenicists. The use of Mendel's laws in the context of discussing human inheritance and the transmission of pathologies was nonetheless pervading the medical literature from the 1920s onwards. This paper investigates the dynamics of medical Mendelism by comparing developments in France and in Britain. In contrast to reluctant botanists and zoologists, the elite of the French medical profession was often 'Mendelian'. Mendel's laws have accordingly been integrated into a complex approach to the familial transmission of pathologies, into a theory of pathological inheritance, which combined genetics, germ theory and hygiene. This approach was widely accepted among the paediatricians and obstetricians active in both the eugenics movement and the natalist movement. The career of the pediatrician R. Turpin is a good example of the visibility of this form of medical Mendelism and of its long-lasting impact on genetic research in the country. In Britain, where the social basis of eugenics was not the medical profession, eugenics' claims often clashed with public health and hygiene priorities. Medical Mendelism was in the first place supported and advanced by doctors and scientists participating in the public debates about the care of 'feeble minded' and the classification of social groups. As revealed by the trajectory of L. Penrose this context favoured the linkage between statistics and pedigree analysis, thus leading to the 'Mendelization' of human pathologies. After the war, this Mendelization in turn facilitated the rise of medical genetics as a speciality focusing on genetic counselling and on the management of computable hereditary risks. This comparative analysis thus highlights: a) the influence of local medical cultures on the fate of Mendelism; b) the continuities between the pre-war studies of pathological inheritance and the post-war rise of medical genetics.

摘要

孟德尔主义的兴起常常与农业科学的发展以及改良品种和选育新植物的尝试联系在一起。相比之下,历史学家往往强调孟德尔主义与医学之间的紧张关系,这种紧张关系源于优生学家的影响。然而,从20世纪20年代起,在讨论人类遗传和病理传播的背景下运用孟德尔定律的做法便在医学文献中普遍存在。本文通过比较法国和英国的发展情况来研究医学孟德尔主义的动态变化。与态度迟疑的植物学家和动物学家不同,法国医学界的精英常常是“孟德尔主义者”。孟德尔定律因此被融入到一种复杂的病理学家族传播研究方法中,融入到一种病理遗传理论中,该理论将遗传学、病菌学说和卫生学结合在了一起。这种方法在积极参与优生运动和生育主义运动的儿科医生和产科医生中得到了广泛认可。儿科医生R. 图尔平的职业生涯便是这种医学孟德尔主义形式显著存在及其对该国基因研究产生持久影响的一个很好例证。在英国,优生学的社会基础并非医学界,优生学的主张常常与公共卫生和卫生优先事项发生冲突。医学孟德尔主义首先得到了参与关于“心智缺陷者”护理和社会群体分类的公开辩论的医生和科学家的支持与推进。正如L. 彭罗斯的经历所揭示的,这种背景有利于统计学与系谱分析之间的联系,从而导致人类病理学的“孟德尔化”。战后,这种孟德尔化反过来又促进了医学遗传学作为一门专注于遗传咨询和可计算遗传风险管理的专业的兴起。因此,这种比较分析突出了:a) 当地医学文化对孟德尔主义命运的影响;b) 战前病理遗传研究与战后医学遗传学兴起之间的连续性。

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