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I'm new in this field. I was reading Shakeel et al. (2018) and came across the below sentences

The rate of emergence and distribution of deleterious variants in populations is important in determining the patterns of underlying genetic load for diseases, because the increased accumulation of genetic load of diseases due to non-random segregation of deleterious variants is so detrimental that fixation or near fixation of these mutations can play a significant role in the extinction of isolate populations with small effective population size.

I'm not sure to correctly understand the concept of the sentences, especially

genetic load of disease and its accumulation due to non-random segregation of deleterious variants.

Could you please kindly explain a bit to me about it?

Many thanks in advance

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  • $\begingroup$ Can you please edit your post to link to the original paper? $\endgroup$ – Remi.b Aug 3 '18 at 14:23
  • $\begingroup$ Do you understand the definitions of genetic load, fixation, effective population size, non-random segregation and deleterious variants? $\endgroup$ – Remi.b Aug 3 '18 at 14:26
  • $\begingroup$ Hi, I added the link of paper. Yes, I knew, but not sure about genetic load and non-segregation in these sentences and totally the main concept of the text. Thank you in advance for any explanation and clarification. $\endgroup$ – Mary Aug 3 '18 at 19:10
  • $\begingroup$ Genetic load is the difference between the fitness of an average genotype in a population and the fitness of some reference genotype. Here the reference genotype would be a hypothetical genotype free from any deleterious mutations. They don't say "non-segregating" but "non-random segregation", likely referring to loci that are in genetic linkage, hence do not segregate independently. Does it help a bit? Do you manage to pinpoint to exactly what is unclear? $\endgroup$ – Remi.b Aug 3 '18 at 19:41
  • $\begingroup$ Thanks. Regarding, non-random segregation, as I searched it refers to non-random segregation of sister chromatids during meiosis. That's why I confused with its concept here. Any comments, please. $\endgroup$ – Mary Aug 3 '18 at 20:10

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