# Mutations in humans

1. Oct 23, 2006

### heliocentricprose

On average, what percent of the human genecode changes each generation? I know there's somesort of mutation rate, but I haven't studied biology for several years and I'm not exactly sure how to calculate it.

2. Oct 23, 2006

### jim mcnamara

The mutation rate for a generation of cells is given as
$$alpha=\frac{h}{N}$$
Where h is the number of mutation observed and N is the total number of cell divisions.

If you tranlsate that to humans, you are interested in the rate as a function of the number of new mutations showing up in the next generation. However, there are lots of problems with this. A large number of spontaneous mutations are fatal to embryo development, for example. So unless you analyzed every premature birth for new defects, you'd miss them. This isn't practical or ethical.

And I have no idea how you could find all mutations - we're diploid, so a recessive mutation has a large probability of not displaying a trait.

3. Oct 23, 2006

### jim mcnamara

4. Oct 24, 2006

### heliocentricprose

"calculated that the per locus rate of mutation for hemophilia in humans is 10^-5 per generation"

"Comparisons of pseudogenes and of synonymous sites between humans and chimpanzees have suggested mutation rates on the order of 10^-8"

10^-5
10^-8

What do these numbers represent? Base pair substitutions, mutation events?

5. Oct 24, 2006

### jim mcnamara

Nucleotide changes - for a single allele (DNA sequence that codes for one enzyme). eg. a Thymine becomes an Adenine, for example.

6. Oct 24, 2006

### heliocentricprose

So this means there are 1/100000000 nucleotide changes per generation?

7. Oct 25, 2006

### jim mcnamara

For one allele, or "one gene". Humans have circa 100,000 genes with sometimes hundreds of alleles (possible gene variations for a given locus).