分子遺伝医学

Review on Mutations and its Determinations

Abstract

Wilson Dubei

Mutations are crucial building blocks for evolution, and population genetics is key to our knowledge of it. This overview is meant to serve as a preface to the subsequent, more in-depth papers. We review the state-of-the-art understanding of mutation rates and both their detrimental and advantageous effects on fitness, and we then take a look at ideas that forecast the outcome of specific mutations or the effects of mutation accumulation for quantitative features. Numerous advancements in the past relied on models that treated the evolution of mutations at each DNA site separately, ignoring how sites on chromosomes are linked together and how effects from different sites interact (epistasis). This study examines previous research that attempts to forecast how mutations may interact. Many fundamental and practical problems can be answered by having a solid understanding of the population genetics of both individual locus mutations and features influenced by multiple loci.