European Journal of Human Genetics

FIGURE 4

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Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Nathalie Delphin, David Benezra, Stavit Shalev, Rivka Carmi, Josué Feingold, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet and Marc Jeanpierre

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Figure 4.

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Haplotype patterns and their probabilities. (a) On each side of the mutation, three possible patterns are recognized. X1 and X2 patterns are the 'natural' patterns, where the shortest haplotype corresponds to the longest branch (X1 ancestor 2 determines the common region; X2 ancestor 1 determines the common region). YZ is the pattern and probability when the shortest segment is either one of the two haplotypes at the tip of the forked branch. (b) Density probability of the three possible patterns (X-axis: recombination fraction, Y-axis: arbitrary units). (c) Graphical representation of the expressions of the conditional probabilities. Solid lines with no symbols indicate the theoretical expectations for the proximal edge (theta 1), given the distal edge (theta 2). Circles and squares indicate simulations for theta 2=0.1 and theta 2=0.15 respectively simulations (n 1=6; n 2=4). Unblackened and blackened symbols indicate the position of the recombinations for the X and YZ patterns respectively.

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