精神分裂症：遗传模型的系统构建
Schizophrenia: the systematic construction of genetic models.
作者信息
Stewart J
出版信息
Am J Hum Genet. 1980 Jan;32(1):47-54.
Abstract
Methods are described for the systematic construction of genetic models of schizophrenia with one, two, and four loci. All models are constrained to fit the following three parameters: (1) frequency of schizophrenia in the general population = 0.9%; (2) frequency of schizophrenia in the sibs of schizophrenics = 8%; and (3) frequency of "schizophrenic spectrum" in the sibs of schizophrenics = 15%. In addition, a fourth parameter, the frequency of the allele predisposing to schizophrenia, is freely variable. The problems of correcting for ascertainment bias, and of comparing and testing these genetic models, are discussed.
摘要
本文描述了构建具有一个、两个和四个基因座的精神分裂症遗传模型的系统方法。所有模型都被限制为符合以下三个参数：（1）普通人群中精神分裂症的发病率 = 0.9%；（2）精神分裂症患者同胞中精神分裂症的发病率 = 8%；（3）精神分裂症患者同胞中“精神分裂症谱系”的发病率 = 15%。此外，第四个参数，即导致精神分裂症的等位基因频率是自由可变的。文中还讨论了校正确定偏倚以及比较和检验这些遗传模型的问题。
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引用本文的文献
1
Schizophrenia: the testing of genetic models by pedigree analysis.精神分裂症：通过系谱分析对遗传模型进行检验。
Am J Hum Genet. 1980 Jan;32(1):55-63.
2
Optimal sampling for pedigree analysis: relatives of affected probands.系谱分析的最佳抽样：患病先证者的亲属
Am J Hum Genet. 1981 Nov;33(6):968-77.
3
Refutation of the general single-locus model for the etiology of schizophrenia.对精神分裂症病因学通用单基因座模型的驳斥。
Am J Hum Genet. 1982 Jul;34(4):630-49.
4
Correcting for single ascertainment by truncation for a quantitative trait.针对数量性状通过截断法校正单一确定情况。
Am J Hum Genet. 1988 Nov;43(5):705-8.
本文引用的文献
1
Schizophrenia: the testing of genetic models by pedigree analysis.精神分裂症：通过系谱分析对遗传模型进行检验。
Am J Hum Genet. 1980 Jan;32(1):55-63.
2
A general model for the genetic analysis of pedigree data.家系数据遗传分析的通用模型。
Hum Hered. 1971;21(6):523-42. doi: 10.1159/000152448.
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Frequency in relatives for an all-or-none trait.全或无性状在亲属中的发生率。
Ann Hum Genet. 1971 Jul;35(1):47-9. doi: 10.1111/j.1469-1809.1956.tb01377.x.
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An analysis of the genetics of schizophrenia.精神分裂症的遗传学分析。
Soc Biol. 1973 Sep;20(3):254-65. doi: 10.1080/19485565.1973.9988051.
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Ascertainment and age of onset in pedigree analysis.系谱分析中的确诊及发病年龄
Hum Hered. 1973;23(2):105-12. doi: 10.1159/000152561.
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The use of multiple thresholds in determining the mode of transmission of semi-continuous traits.
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Estimating the genetic contribution to schizophrenia.
Am J Psychiatry. 1976 Feb;133(2):185-91. doi: 10.1176/ajp.133.2.185.
8
Commentary on "a critical review of recent adoption, twin, and family studies of schizophrenia: behavioral genetics perspectives".对《精神分裂症近期收养、双胞胎及家族研究的批判性综述：行为遗传学视角》的评论
Schizophr Bull. 1976;2(3):402-12. doi: 10.1093/schbul/2.3.402.
9
Studies designed to disentangle genetic and environmental variables in schizophrenia: some epistemological questions and answers.旨在厘清精神分裂症中遗传和环境变量的研究：一些认识论问题与解答。
Am J Psychiatry. 1976 Oct;133(10):1134-7. doi: 10.1176/ajp.133.10.1134.
10
A reconsideration of the Kety and associates study of genetic factors in the transmission of schizophrenia.对凯蒂及其同事关于精神分裂症遗传因素传递研究的重新审视。
Am J Psychiatry. 1976 Oct;133(10):1129-33. doi: 10.1176/ajp.133.10.1129.
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