The Age of a Unique Event Polymorphism

The Age of a Unique Event Polymorphism

Lada Markovtsova^a, Paul Marjoram^b, and Simon Tavaré^a,b,c
^a Department of Mathematics, University of Southern California, Los Angeles, California 90089-1113,
^b Biostatistics Division, Department of Preventive Medicine, University of Southern California, Los Angeles, California 90033
^c Program in Molecular Biology, Department of Biological Sciences, University of Southern California, Los Angeles, California 90089-1340

Corresponding author: Simon Tavaré, Program in Molecular Biology, Department of Biological Sciences, SHS 172, University of Southern California, Los Angeles, CA 90089-1340., stavare{at}gnome.usc.edu (E-mail)

Communicating editor: G. A. CHURCHILL

We develop a Markov chain Monte Carlo approach for estimatingthe distribution of the age of a mutation that is assumed tohave arisen just once in the history of the population of interest.We assume that in addition to the presence or absence of thismutation in a sample of chromosomes, we have DNA sequence datafrom a region completely linked to the mutant site. We applyour method to a mitochondrial data set in which the DNA sequencedata come from hypervariable region I and the mutation of interestis the 9-bp region V deletion.

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