Each human has, on average, one or two mutated alleles that were not present in either parent.

Question

BlackTom AI · Accepted Answer

Consider the statement: Each human has, on average, one or two mutated alleles that were not present in either parent.

First, recall what a de novo mutation is: a genetic alteration that appears in an offspring but is not found in either parent. Such mutations occur in the germ cells (egg or sperm) or very early after fertilization.

Next, look at the actual mutation rate in humans. Genome-wide estimates suggest that each individual carries on the order of dozens to roughly a hundred new single-nucleotide variants (SNVs) that were not present in the parental genomes. Some estimates place the typical number in the range of about 50–100 de novo SNVs per genome per generation, with additional mutations in structural variants that may also be present but are less numerous.

Given this, the idea that there is only one or two new mutated alleles per person is far too small to reflect the observed rate of new mutations. Therefore, the statement underestimates the typical de novo mutational load carried by a new individual.

Additionally, not all de novo mutations have functional consequences; many occur in noncoding regions or are neutral. However, the key point for evaluating the statement is the sheer number of de novo mutations, which is much higher than one or two.

In summary, the claim that each human has on average only one or two mutated alleles not present in either parent contradicts established data on human mutation rates. The correct interpretation is that humans typically acquire tens of new mutations per generation, though most have little or no effect on phenotype.

If you’re comparing this to a multiple-choice format, you’d mark the statement as false because the observed de novo mutation rate per genome per generation is substantially higher than one or two alleles.

BIOL 1001 (090-095) Unit 2.1 Learning Quiz

Each human has, on average, one or two mutated alleles that were not present in either parent.

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