Mutation rate in humans

[Irbis]

What is an average mutation rate in humans per genome per generation?

[chadn737]

Depends in part on the type of mutation. SNP vs INDEL vs Transposition vs CNV...

 

Based on more resent whole genome sequencing it appears to be on the order of ~50-100 mutations per individual. There are probably around that many differences new mutations in you, in me, in each of your parents, and so on.

[Mr.Zurich92]

In each generation there are on average 50 new mutation in the DNA. Doens't this mean after several generations the de ne novo mutation accumulate to a high number? I mean let's say five generations: 50 plus 50 plus 50 plus 50 plus 50 equals 250 de novo mutations!

https://www.23andme.com/paternal_mutations/

 

There is a association between father's age when he procreates and de number of de novo mutations in the sperm.

 

Actually here in Switzerland the average man procreates his first child in age of 34! So there are 74 de novo mutation on average.

Edited August 15, 2014 by Mr.Zurich92

[Irbis]

Has anyone estimated how many of these (on average) are expressed in the phenotype?

[Delta1212]

In each generation there are on average 50 new mutation in the DNA. Doens't this mean after several generations the de ne novo mutation accumulate to a high number? I mean let's say five generations: 50 plus 50 plus 50 plus 50 plus 50 equals 250 de novo mutations!

https://www.23andme.com/paternal_mutations/

 

There is a association between father's age when he procreates and de number of de novo mutations in the sperm.

 

Actually here in Switzerland the average man procreates his first child in age of 34! So there are 74 de novo mutation on average.

That only seems like a high number of mutations until you consider that it's 250 mutations out of 3 billion base pairs.

[Mr.Zurich92]

That only seems like a high number of mutations until you consider that it's 250 mutations out of 3 billion base pairs.

Of course there are many more de novo mutations in your DNA or my DNA! I only mentioned an exemple of how many new mutations in someones DNA is compared to the inherited DNA parts from his ancenstors five generations backwards. Founder of 23andme got sequenced her whole DNA and she said that they have founded ca 6000 novel mutations which are very rare in population.

 

Here in this video from 4 minute you can see it:

 

Has anyone estimated how many of these (on average) are expressed in the phenotype?

Nobody today knows if, how and what way they are affecting the phenotype. But I guess it is likely that there are such de novo mutations which do make higher or lower the risk for certain diseases, or they affecting human traits like intelligence, hight, sexual orientation or looking. That's possible.

Edited August 16, 2014 by Mr.Zurich92