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人体研究可行吗?关于突变成分与人群监测的一些思考。

Are human studies possible? Some thoughts on the mutation component and population monitoring.

作者信息

Denniston C

出版信息

Environ Health Perspect. 1983 Oct;52:41-4. doi: 10.1289/ehp.835241.

DOI:10.1289/ehp.835241
PMID:6653537
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1569338/
Abstract

The concept of the mutation component of a genetic trait is discussed and its relation to heritability investigated. It is found that for qualitative traits held in the population by opposing directional selection and mutation, the mutation component equals the broad sense heritability. The mutational component of a quantitative trait with an intermediate optimum is found generally to be between half and one times the (narrow sense) heritability of the character. Although more work on this matter is required, the finding of a relationship between mutation component and heritability should allow us to make better predictions regarding the likely impact of an increased mutation rate on the human population. Some statistical problems relevant to the detection of an increased mutation rate are also discussed.

摘要

本文讨论了遗传性状突变成分的概念,并研究了其与遗传力的关系。研究发现,对于由反向定向选择和突变在群体中维持的质量性状,突变成分等于广义遗传力。一般发现,具有中间最优值的数量性状的突变成分在该性状(狭义)遗传力的一半到一倍之间。尽管在这个问题上还需要更多的研究,但突变成分与遗传力之间关系的发现应该使我们能够更好地预测突变率增加对人类群体可能产生的影响。还讨论了与检测突变率增加相关的一些统计问题。

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本文引用的文献

1
The Genetic Covariance between Characters Maintained by Pleiotropic Mutations.由多效突变维持的性状间遗传协方差。
Genetics. 1980 Jan;94(1):203-15. doi: 10.1093/genetics/94.1.203.
2
The mutation component of genetic damage.
Science. 1981 May 22;212(4497):888-93. doi: 10.1126/science.7233180.
3
A stochastic model concerning the maintenance of genetic variability in quantitative characters.一个关于数量性状遗传变异性维持的随机模型。
Proc Natl Acad Sci U S A. 1965 Sep;54(3):731-6. doi: 10.1073/pnas.54.3.731.
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Surveillance of malformations.畸形监测
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The influence of the mating system on the maintenance of genetic variability in polygenic characters.交配系统对多基因性状遗传变异性维持的影响。
Genetics. 1977 Jun;86(2 Pt. 1):485-98.
7
Surveillance of Down's syndrome as a paradigm of population monitoring.作为人群监测范例的唐氏综合征监测。
Hum Hered. 1976;26(5):360-71. doi: 10.1159/000152828.