Hi, I identified a mutation that is very frequent and could represent a founder effect in Vietnam. I would like to know the time that has elapsed since the appearance of the common ancestor carriers in the population and the growth rate of the number of copies since this appearance.
Dear Emma,
What you have to do is to look for short tandem repeats (STR) around the mutation of interest. You can do this with teh repeat finder tool: http://tandem.bu.edu/trf/trf.html
STR's mutate very frequently due to slippage of the DNA polymerase, depending of the repeat lenght, this mutation rate is about 1% for every generation (25 years). So you have to set up a genescan assay with primers designed around these STR's. Youhave to test all patients with the mutationand probably you will find the same or almost the same lenght of the STR's, in contrast with control samples.
Also the distance between the mutation and the STR is playing a role, the recombination rate is depending on the distance, and is about 0,1% per MB per generation.
Dear Emma,
I agree with the recommendation done by Martin de Boer. Only one more recommendation: try to use STR of four-base pair repetition rather than two bp, Once you have your STR analysed then you can estimate the age of the mutation with the software recommended by Davide Risso, for example, or others that are available in your institution.
Dear Martin and Ana do you think the number of repeats (adjacent to mutation) between patients and healthy candidates can help. If yes how many missing STR repeats (due to slippage) per generation possible?
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