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本文引用的文献

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Heterozygous Effects on Viability, Fertility, Rate of Development, and Longevity of Drosophila Chromosomes That Are Lethal When Homozygous.对果蝇染色体杂合状态下的活力、育性、发育速率和寿命的影响,这些染色体在纯合时是致死的。
Genetics. 1960 Aug;45(8):1071-83. doi: 10.1093/genetics/45.8.1071.
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AN ESTIMATE OF THE MUTATIONAL DAMAGE IN MAN FROM DATA ON CONSANGUINEOUS MARRIAGES.根据近亲婚姻数据对人类突变损伤的估计
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THE GENETIC STRUCTURE OF NATURAL POPULATIONS OF DROSOPHILA MELANOGASTER. I. SPONTANEOUS MUTATION RATE OF POLYGENES CONTROLLING VIABILITY.黑腹果蝇自然种群的遗传结构。I. 控制生活力的多基因的自发突变率。
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A study of spontaneous mutation in Drosophila melanogaster.一项关于黑腹果蝇自发突变的研究。
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Homozygous viability and fertility loads in Drosophila melanogaster.黑腹果蝇中的纯合子生存力和繁殖力负荷
Genetics. 1966 Jan;53(1):27-46. doi: 10.1093/genetics/53.1.27.
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The influence of epistasis on homozygous viability depression in Drosophila melanogaster.上位性对黑腹果蝇纯合子活力降低的影响。
Genetics. 1969 Feb;61(2):497-519. doi: 10.1093/genetics/61.2.497.
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Genetics. 1968 Nov;60(3):601-14. doi: 10.1093/genetics/60.3.601.
8
The genetic structure of natural populations of Drosophila melanogaster. V. Coupling-repulsion effect of spontaneous mutant polygenes controlling viability.黑腹果蝇自然种群的遗传结构。V. 控制生活力的自发突变多基因的偶联-互斥效应。
Genetics. 1968 Aug;59(4):513-35. doi: 10.1093/genetics/59.4.513.

影响黑腹果蝇生存力的基因的突变率及显性

Mutation rate and dominance of genes affecting viability in Drosophila melanogaster.

作者信息

Mukai T, Chigusa S I, Mettler L E, Crow J F

出版信息

Genetics. 1972 Oct;72(2):335-55. doi: 10.1093/genetics/72.2.335.

DOI:10.1093/genetics/72.2.335
PMID:4630587
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1212831/
Abstract

Spontaneous mutations were allowed to accumulate in a second chromosome that was transmitted only through heterozygous males for 40 generations. At 10-generation intervals the chromosomes were assayed for homozygous effects of the accumulated mutants. From the regression of homozygous viability on the number of generations of mutant accumulation and from the increase in genetic variance between replicate chromosomes it is possible to estimate the mutation rate and average effect of the individual mutants. Lethal mutations arose at a rate of 0.0060 per chromosome per generation. The mutants having small effects on viability are estimated to arise with a frequency at least 10 times as high as lethals, more likely 20 times as high, and possibly many more times as high if there is a large class of very nearly neutral mutations.-The dominance of such mutants was measured for chromosomes extracted from a natural population. This was determined from the regression of heterozygous viability on that of the sum of the two constituent homozygotes. The average dominance for minor viability genes in an equilibrium population was estimated to be 0.21. This is lower than the value for new mutants, as expected since those with the greatest heterozygous effect are most quickly eliminated from the population. That these mutants have a disproportionately large heterozygous effect on total fitness (as well as on the viability component thereof) is shown by the low ratio of the genetic load in equilibrium homozygotes to that of new mutant homozygotes.

摘要

自发突变被允许在一条仅通过杂合雄性传递的第二条染色体上积累40代。每隔10代,对染色体进行检测,以评估积累突变体的纯合效应。根据纯合活力对突变积累代数的回归以及重复染色体之间遗传方差的增加,可以估计突变率和单个突变体的平均效应。致死突变以每代每条染色体0.0060的速率出现。对活力影响较小的突变体估计出现频率至少是致死突变的10倍,更可能是20倍,如果存在一大类非常接近中性的突变,可能还要高得多。——对从自然种群中提取的染色体测量了此类突变体的显性。这是根据杂合活力对两个组成纯合子之和的活力的回归确定的。平衡种群中微小活力基因的平均显性估计为0.21。这低于新突变体的值,正如预期的那样,因为那些具有最大杂合效应的突变体最迅速地从种群中被淘汰。平衡纯合子中的遗传负荷与新突变纯合子的遗传负荷之比很低,这表明这些突变体对总适合度(以及其中的活力成分)具有不成比例的大杂合效应。