Four Gamete Test

In population genetics, the "Four Gamete Test" is a method for detecting historical recombination events [Statistical Properties of the Number of Recombination Events in the History of a Sample of DNA Sequences. Richard R. Hudson and Norman L. Kaplan. Genetics. 1985 September; 111(1): 147–164.] .

Description

Given a set of four or more sampled haploid chromosomes, the Four Gamete Test (FGT) detects recombination events by locating pairs of segregating sites that cannot have arisen without either recombination or a repeat mutation. Under the infinite-sites assumption (i.e. repeat mutations have zero probability), the probability of a repeat mutation is zero, and hence a recombination event is inferred. For example, if the data being studied consists of bi-allelic Single Nucleotide Polymorphism data, then the following configuration could be generated "without" recombination.

However, the following configuration cannot be generated without recombination.

The FGT detects calls a recombination event if the above configuration in occurs in the data. The data in the above configuration is considered to be "incompatible" with any non-recombining ancestral history.

The FGT has low statistical power to detect recombination. Furthermore, the FGT is suitable only when the mutation rate is significantly smaller than the recombination rate. If the mutation rate is high, then the infinite-sites assumption is violated. For example, the FGT is generally suitable for human datasets, but is unsuitable for bacterial datasets.

ee also

*Genetic recombination
*Coalescent theory

References