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通过对数优势分数法对数量性状的显性基因座进行连锁分析的样本量指南。

Sample-size guidelines for linkage analysis of a dominant locus for a quantitative trait by the method of lod scores.

作者信息

Boehnke M

机构信息

Department of Biostatics, School of Public Health, University of Michigan, Ann Arbor 48109.

出版信息

Am J Hum Genet. 1990 Aug;47(2):218-27.

PMID:2378347
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683715/
Abstract

Sample-size guidelines for linkage studies of quantitative traits partially determined by a dominant major locus are needed to provide a rough estimate of the amount of pedigree material that should be sampled to map the loci that influence such traits. After pedigrees are sampled, a specific power calculation can be carried out to evaluate the linkage information provided by the sampled pedigrees. Using computer simulation, I provide sample-size guidelines for linkage studies by the method of lod scores of quantitative traits partially determined by a dominant major locus. I consider the effects of a trait model, marker characteristics, and sampling strategy, with particular attention to sampling strategy because it is the one factor which the investigator can fully control. My results suggest that linkage studies of quantitative traits are practical, particularly if the investigator chooses an efficient sampling design and an efficient strategy to select pedigrees for linkage analysis.

摘要

对于部分由显性主基因座决定的数量性状进行连锁研究时,需要样本量指导原则,以便对为定位影响此类性状的基因座而应采集的系谱材料数量提供一个大致估计。在采集系谱后,可以进行特定的功效计算,以评估所采集系谱提供的连锁信息。通过计算机模拟,我针对部分由显性主基因座决定的数量性状,采用对数优势分数法给出了连锁研究的样本量指导原则。我考虑了性状模型、标记特征和抽样策略的影响,特别关注抽样策略,因为它是研究者能够完全控制的一个因素。我的结果表明,数量性状的连锁研究是可行的,尤其是当研究者选择高效的抽样设计和有效的策略来选择用于连锁分析的系谱时。

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本文引用的文献

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Sequential tests for the detection of linkage.用于检测连锁的序贯检验。
Am J Hum Genet. 1955 Sep;7(3):277-318.
2
Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information.利用定性(疾病状态)和定量(血清铁)信息对特发性血色素沉着症进行基因分析。
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Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity.血浆多巴胺-β-羟化酶(DBH)、红细胞儿茶酚-O-甲基转移酶(COMT)和血小板单胺氧化酶(MAO)的分离与连锁研究:ABO基因座与控制DBH活性的基因之间可能存在的连锁关系。
Am J Hum Genet. 1982 Mar;34(2):250-62.
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Hum Hered. 1983;33(5):291-301. doi: 10.1159/000153393.
6
Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
7
Construction of a genetic linkage map in man using restriction fragment length polymorphisms.利用限制性片段长度多态性构建人类遗传连锁图谱。
Am J Hum Genet. 1980 May;32(3):314-31.
8
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.
9
Analysis of family resemblance. 3. Complex segregation of quantitative traits.家族相似性分析。3. 数量性状的复杂分离分析。
Am J Hum Genet. 1974 Jul;26(4):489-503.
10
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.人类家系中重组率的估计:人类连锁研究似然性的高效计算。
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