布鲁诺·舒尔茨1936年出版的《医学遗传学研究方法论,特别是精神病学》一书。

IF 1.6 3区 医学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2023-11-06 DOI:10.1002/ajmg.b.32963
Kenneth S. Kendler, Astrid Klee
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引用次数: 0

摘要

1936年,布鲁诺·舒尔茨根据他在德国精神病学研究所的经历,发表了第一篇详细的、长达一本书的精神遗传学研究方法论综述。重点放在正确选择亲属和孟德尔传播模型所需的确定校正上。双胞胎研究被认为是生育率下降对风险模式的影响。在实地工作中,舒尔茨强调了建立信任、保密、辅助线人以及使用医疗和其他行政记录的重要性,所有这些都最好存储在个人档案中。综述了几种年龄矫正方法。舒尔茨提供了这些问题和其他问题的详细代数处理,包括病因同质性的测试,并举例说明。他强调了精神遗传学研究中的两个基本问题:(i)其与最佳诊断边界的相互依赖性,这是鲜为人知的;(ii)临床样本的遗传同质性。考虑到这些问题,他对发现孟德尔传播模式持悲观态度。他认为19世纪精神病基因调查的主要方法——“遗传负担”——是粗糙的,并因家庭规模而有偏见。尽管这本书是在德国纳粹政权巩固的时候写的,但它并没有支持他们的种族/优生学政策,可以被视为对他们的微妙质疑。
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Bruno Schulz's 1936 book “Methodology of medical genetic research particularly with regard to psychiatry”

In 1936, Bruno Schulz published the first detailed, book-length review of the methodology of psychiatric genetic research, based on his experiences at the German Research Institute of Psychiatry. Emphasis is placed on proper selection of relatives and the ascertainment corrections required for Mendelian transmission models. Twin studies are considered as is the impact of reduced fertility on patterns of risk. For the field work, Schulz emphasizes the importance of trust-building, confidentiality, collateral informants, and the use of medical and other administrative records, all ideally stored in personal files. Several methods of age-correction are reviewed. Schulz provides detailed algebraic treatments of these and other problems, including tests for etiologic homogeneity, with worked examples. He emphasizes two fundamental concerns in psychiatric genetics research: (i) its inter-dependency with the optimal diagnostic boundaries, which are rarely known and (ii) the genetic homogeneity of clinical samples. Given these problems, he is pessimistic about finding Mendelian transmission patterns. He assesses the predominant 19th-century method of psychiatric genetic investigation—“hereditary burden”—to be crude and biased by family size. Although written at a time of consolidation of Nazi power in Germany, this book nowhere endorses their racial/eugenic policies and can be seen as subtly questioning them.

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来源期刊
CiteScore
5.90
自引率
7.10%
发文量
40
审稿时长
4-8 weeks
期刊介绍: Neuropsychiatric Genetics, Part B of the American Journal of Medical Genetics (AJMG) , provides a forum for experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. It is a resource for novel genetics studies of the heritable nature of psychiatric and other nervous system disorders, characterized at the molecular, cellular or behavior levels. Neuropsychiatric Genetics publishes eight times per year.
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