Discriminating Between Ibd And Recurrent
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13.1 years ago
Genotepes ▴ 950

Hi,

I know this is not the best place to ask this but I have spotted some population geneticists that may help when I went trought the questions.

I have three occurences of the same mutation, each lying on a haplotypes of micro-satellites. I am asked to say whether there is evidence for recurrent mutations - 2 individuals whare alleles and one is shares no common haplotype.

I tried astimating age of mutation and hoped to provs some incompatibility with allele frequency but because I am in a situation where information is very low (3 microsat t=which arereally "close" genetically), I find it hard to give a strong support for any of the alternatives.

Would you have a method (and even software) to propose ?

Christian

evolution genetics mutation • 1.8k views
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Some more detail might be useful. Are these de novo events? Are the individuals related? How "close" are the microsatellites? Any other data for other individuals?

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Hi,

three individuals are "unrelated" - as far as we know (one is from different country). Each one has relatives (nuclear family) where affected share the haplotype - this is how I was able to reconstruct the haplotype.

Two microsatellites are very close < 0.5 cM on the "left" and 0.1 cM on the right. The other span on 10cM, which is a bit large for this kind of study.

MS1-MS2-MS3 -MS4 - MS5-mutation-MS6 - MS7-MS8-MS9 0 0.1 0.15 2.6 6 6.6 6.8 7.3 8.9 cM

This map is not ideal, at least on the right side but I had to make do with it.

Christian

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