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系谱分离分析的效率与稳健性

Efficiency and robustness of pedigree segregation analysis.

作者信息

Go R C, Elston R C, Kaplan E B

出版信息

Am J Hum Genet. 1978 Jan;30(1):28-37.

PMID:623101
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685454/
Abstract

Different pedigree structures and likelihoods are examined to determine their efficiency for parameter estimation under one-locus models. For the cases simulated, family size has little effect; estimates based on unconditional likelihoods are generally more efficient than those based on conditional likelihoods. The proposed method of pedigree analysis under a one-locus model is found to be robust in the analysis of nuclear families: skewness of the data and polygenic inheritance will not lead to the spurious detection of major loci unless they occur simultaneously, and together with a moderate amount of environmental correlation among sibs.

摘要

研究了不同的谱系结构和似然性,以确定它们在单基因座模型下进行参数估计的效率。对于模拟的情况,家庭规模影响较小;基于无条件似然性的估计通常比基于条件似然性的估计更有效。发现在单基因座模型下提出的谱系分析方法在核心家庭分析中具有稳健性:数据的偏态和多基因遗传不会导致主要基因座的虚假检测,除非它们同时出现,并且与同胞之间适度的环境相关性一起出现。

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本文引用的文献

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A general model for the genetic analysis of pedigree data.家系数据遗传分析的通用模型。
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Studies on blood and urine glucose in Seminole Indians: indications for segregation of a major gene.塞米诺尔印第安人的血糖和尿糖研究:一个主要基因分离的指征
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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
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Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man.家族性高胆固醇血症基因在杂合子中的表达:人类显性疾病的机制。
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Study of the genetic transmission of hypercholesterolemia and hypertriglyceridemia in a 195 member kindred.对一个195名成员的家族中高胆固醇血症和高甘油三酯血症的遗传传递研究。
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General models for segregation analysis.分离分析的一般模型。
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Extensions to pedigree analysis I. Likehood calculations for simple and complex pedigrees.系谱分析的扩展 I. 简单和复杂系谱的似然性计算
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Linkage studies on familial hyperlipoproteinemia with xanthomatosis: normal lipoprotein markers and the C3 polymorphism.
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Probable linkage between essential familial hypercholesterolemia and third complement component (C3).
Cytogenet Cell Genet. 1976;16(1-5):294-7. doi: 10.1159/000130613.