Potentially Harmful Stowaways

Researchers report an estimate of the average number of recessive lethal mutations people carry.

By | April 8, 2015

WIKIMEDIA, CHRISTOPH BOCK/MAX PLANCK INSTITUTE FOR INFORMATICSPeople harbor 0.58 recessive lethal mutations on average, researchers from the University of Chicago estimated in a report published in Genetics today (April 8).

Studying mutation rates within a population in South Dakota that has for generations kept detailed genealogical records, Chicago’s Ziyue Gao and her colleagues were able to calculate the average number of recessive lethal mutations each member of the group carries. The team then extended its estimate to encompass a broader human population, and settled on a similar figure of around 0.58. This number is on par with, or even slightly lower than, previous estimates—such as those reported by Alan Bittles of Murdoch University and his colleagues in 1994 (0.56–0.7) and 2010.

This latest estimate “is probably lower than the real average for most populations, but it is in the right ballpark,” Gao said in a statement

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Avatar of: PastToTheFuture


Posts: 101

April 9, 2015

Does that include de novo mutations?

With older parents, smaller families and reduced selection pressures, you would expect a build up of broken genes.

Maybe humans aren't really animals and subject to the rules of science.


Avatar of: Hugh-F-61


Posts: 69

April 11, 2015

The more isolated a population is, the more it becomes inbred and homozygous, so the faster selection acts to remove recessive deleterious mutations. A population with complete records is likely to be closed, so any recessive lethals present in the founding population will have been selected to a lower frequency in 200 years.

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