1
vote
0answers
21 views

Penetrance Calculation of a Spontaneous Mutation

I'm trying to estimate the penetrance of a disease in a population given a rare spontaneous mutation that confers predisposition in an autosomal dominant manner. Given that the mutation is ...
1
vote
1answer
57 views

Population Genetics Question

Can someone please help with this question? Here is my working (just in case it is not clear: 1/300*1/30*1/2) but is this actually correct or do I need to multiply by 0.5 once again? I appreciate ...
1
vote
0answers
30 views

What is TILLING?

How does TILLING (Targeting Induced Local Lesions in Genomes) work? What is needed to perform a TILLING experiment, and what kind of information can we get out of it?
2
votes
1answer
73 views

What is the standing genetic variation?

I am reading this review. In the first part, the author introduces Standing Genetic Variation, described as: STANDING GENETIC VARIATION Allelic variation that is currently segregating within a ...
0
votes
1answer
113 views

How can synonymous mutations lead to cancerous or tumorous phenotypes?

After analyzing DNA sequences of an oncogene from many human cancer patients, you found that synonymous substitutions occur in a specific codon of this oncogene. Assuming that these synonymous ...
5
votes
2answers
207 views

Correlation between genome size and mutation rate?

Martin Nowak in his book "Evolutionary Dynamics" talks about a given correlation between genome size and mutation rate. What correlation does exactly exist between these two concepts? Is it a ...
2
votes
2answers
93 views

How does smoking, an environmental factor, cause cancer, fundamentally a genetic disease?

If cancer is fundamentally a genetic disease, how might an environmental factor such as smoking cause cancer?
6
votes
1answer
57 views

How well supported is the hypothesis that aging is mainly caused by the number of mutations in tissues?

I heard the hypothesis, that the (main) reason of aging is the increasing number of mutations in body tissues. The higher the number of mutations is, the older tissue is. Is this true? And how well ...
4
votes
1answer
781 views

Difference between mutation and DNA damage

What is the strict difference between mutation and DNA damage? As far as I understand it, a mutation is an alteration in the genetic sequence, having "tricked" the repairing machinery and thus ...
1
vote
1answer
28 views

Genotoxic agent and their metabolic pathway

What are the mechanics (set of biochemical reactions) allowing a given genotoxic agent to modify the mutation rate at a given spot? to induce only a given type of mutation (from Gs to Cs for ...
4
votes
1answer
70 views

Transcriptionally-mediated DNA damage

I'm researching the genetics of brain cancer, and finding a huge number of mutations in voltage-gated channels. It stands to reason that some of this DNA damage is due to the DNA being transcribed ...
3
votes
1answer
23 views

Mutation in axillary buds of trees overcoming self-incompatability?

I seem to recall from either reading or lecture that there have been instances of trees that are self-incompatible accumulating enough mutations in an axillary bud that the resulting branch was able ...
6
votes
1answer
201 views

Have there been attempts to identify Chomsky's “language mutation” in humans?

I'm not versed in either biology or linguistics so please forgive any naiveties I may commit. I've learned that Noam Chomsky thinks that language is a result of a single genetic mutation in humans. ...
9
votes
2answers
416 views

Which bacteria have the highest mutation rate?

From my reading on M. tuberculosis, I know that this organism has a pretty high mutation rate due to uncorrected sloppy replication, which leads to a high rate of development of spontaneous resistance ...
11
votes
3answers
292 views

Number of beneficial mutations cataloged?

I can see from Wikipedia that there are possibly thousands of harmful mutations that have been cataloged and linked to disease. There are also unnumbered neutral mutations. But, does anyone know how ...
3
votes
1answer
207 views

Predicting progeny of recessive mutations using recombination

I was asked this question on a test and got it wrong, but I'd like to know how to do it. The answers are shown in the blanks below: You are studying two recessive mutations in the fruit fly D. ...