基于罕见蛋白质变体估算突变率。
Estimation of mutation rate from rare protein variants.
作者信息
Nei M
出版信息
Am J Hum Genet. 1977 May;29(3):225-32.
Abstract
A method for estimating the mutation rate for protein loci from the number of rare alleles in the population is presented. It seems to have a number of advantages compared with Kimura and Ohta's method. Applying this method to Neel's data from American Indians in South America and to Nozawa's data from Japanese macaques, the mutation rate for electrophoretically detectable alleles is estimated to be (2 approximately 3) x 10(-6) per locus per generation. This estimate may not include many severely or substantially deleterious mutations.
摘要
本文提出了一种根据群体中稀有等位基因数量来估计蛋白质基因座突变率的方法。与木村和太田的方法相比，该方法似乎具有许多优点。将此方法应用于南美洲美洲印第安人尼尔的数据以及日本猕猴野泽的数据，电泳可检测等位基因的突变率估计为每基因座每代（2至3）×10⁻⁶。这个估计可能不包括许多严重或实质性有害的突变。
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Estimation of mutation rate from rare protein variants.基于罕见蛋白质变体估算突变率。
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本文引用的文献
1
A Mixed Model of Mutation for Electrophoretic Identity of Proteins within and between Populations.群体内和群体间蛋白质电泳同质性的突变混合模型。
Genetics. 1976 Jun;83(2):423-32. doi: 10.1093/genetics/83.2.423.
2
The Distribution of Gene Frequencies Under Irreversible Mutation.不可逆突变下基因频率的分布
Proc Natl Acad Sci U S A. 1938 Jul;24(7):253-9. doi: 10.1073/pnas.24.7.253.
3
THE NUMBER OF ALLELES THAT CAN BE MAINTAINED IN A FINITE POPULATION.有限种群中能够维持的等位基因数量。
Genetics. 1964 Apr;49(4):725-38. doi: 10.1093/genetics/49.4.725.
4
The average number of generations until extinction of an individual mutant gene in a finite population.有限种群中单个突变基因灭绝前的平均世代数。
Genetics. 1969 Nov;63(3):701-9. doi: 10.1093/genetics/63.3.701.
5
The frequency distribution of lethal chromosomes in finite populations.有限群体中致死染色体的频率分布。
Proc Natl Acad Sci U S A. 1968 Jun;60(2):517-24. doi: 10.1073/pnas.60.2.517.
6
Theoretical foundation of population genetics at the molecular level.分子水平上群体遗传学的理论基础。
Theor Popul Biol. 1971 Jun;2(2):174-208. doi: 10.1016/0040-5809(71)90014-1.
7
Pattern of neutral polymorphism in a geographically structured population.地理结构种群中的中性多态性模式
Genet Res. 1971 Oct;18(2):125-31. doi: 10.1017/s0016672300012520.
8
Regional linguistic and genetic differences among Yanomama indians.亚诺玛米印第安人之间的地区语言和基因差异。
Science. 1974 May 10;184(4137):637-44. doi: 10.1126/science.184.4137.637.
9
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Ann Hum Genet. 1973 Oct;37(2):219-26. doi: 10.1111/j.1469-1809.1973.tb01829.x.
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