 Recombination fraction

The recombination fraction is the probability that a transmitted gamete carries a recombinant haplotype between two specified genetic loci, relative to the parent's known haplotype phase. Write it as $r$ here; the symbol $\theta$ is also common in genetic linkage analysis. In the ordinary symmetric two-locus model, $0\le r\le 1/2$, with $r=0$ for complete genetic linkage and $r=1/2$ for independent assortment.

For phase-known genotype $AB/ab$, fair Mendelian segregation and equal reciprocal gamete probabilities giveFor example, 1,000 independent informative transmissions with observed counts $400,400,100,100$ in this order have empirical recombination fraction $(100+100)/1000=0.2$. Those illustrative counts match the expected values in the toy model, but actual counts fluctuate. The genetic linkage diagram shows both the parental and recombinant classes, so their separate probabilities are not confused with the total $r$.

The recombination fraction measures the probability of an odd number of origin switches along the transmitted chromatid. It is neither the expected value of the exchange count nor the probability of at least one exchange: even positive counts can be invisible at the two endpoints. Converting an observed recombination fraction to a genetic map distance therefore needs an explicit model such as the Haldane mapping function. The distinction between transmitted-chromatid counts and four-chromatid exchange counts is discussed in Weeks, Tang and Kwon (2009), Casares' map function: No need for a 'corrected' Haldane's map function, Genetica 135, 305–307.