8.2: Detecting Recombination

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Mendel’s Second Law described the random assortment of alleles of pairs of genes. However, certain pairs of genes show deviations from this random assortment, leading to the conclusion that those genes are linked on a chromosome. The linkage is not always complete, meaning that nonparental genotypes are seen in a proportion of the progeny. This is explained by crossing over between the gene pairs during meiosis in the parents.

Let’s think about the general recombination shown in Figure 8.1 in this context. The two chromosomes outlined in the figure are in a heterozygous parent, with the wild type alleles for genes A and B (A+ and B+) are on one chromosome and the mutant alleles (A- and B-) are on the homologous chromosome (we can ignore gene C for this discussion.) Homologous recombination during meiosis can generate the new chromosomes shown, now with A+ and B- on one chromosome and A- and B+ on the other. However, this crossover will not occur between genes A and B on all chromosomes undergoing meiosis in this parent. Although recombination is an essential part of meiosis (see next section), the sites of recombination on a particular chromosome varies from cell to cell. In fact, the probability that a crossover will occur between two genes is a measure of the genetic distance between them (reviewed in Chapter 1). The recombinant chromosomes resulting from a crossover are revealed in a mating between the heterozygous parent (A+B+/A-B-) and a homozygous recessive individual (A-B-/A-B-). Most of the germ cells contributed by the heterozygous parent will have one of the parental chromosomes A+B+ or A-B-, but those germ cells resulting from the crossover between genes A and B will have the recombinant chromosomes (either A+B- or A-B+). The homozygous recessive parent will contribute only A-B- chromosomes. Thus in the progeny, one sees mainly offspring whose phenotype is determined by one of the chromosomes in the heterozygous parent, either wild type A and B (genotype of A+B+/A-B-) or mutant A and B (genotype A-B-/A-B-). However, some of the progeny will show a wild type A and a mutant B phenotype, or vice versa. These carry the chromosomes resulting from the crossover (genotype of A+B-/A-B- or A-B+/A-B-). The frequency with which one sees progeny with nonparental phenotypes is related to their distance apart on the chromosome; this measure is referred to as a genetic distance or a recombination distance.