Basic Concepts

A population is a set of interbreeding individuals all belonging to the same species. In most sexually reproducing species, including humans, each organism contains two copies of virtually every gene—one inherited from each parent. Any particular gene may occur in slightly different forms, called alleles. An organism with two identical alleles is called homozygous for that gene, and one with two different alleles is called heterozygous. During the formation of gametes, the two alleles separate into different gametes. Mating unites egg and sperm, so that the offspring obtains two alleles for each gene.

The two alleles for a gene typically have different effects on the phe-notype, or characteristics, of the organism. For many genes, one allele will control the phenotype if it is present in either one or two copies; this allele, which is often represented by a single, uppercase letter—B, for example— is said to be dominant. The other allele will only exert a visible effect if the dominant allele is not present; it is said to be recessive and is often represented by a lowercase letter—b, for example. The genotype of an organism specifies both alleles for a particular gene and is often symbolized by pairs of letters, such as BB, Bb, or bb, with each letter representing an allele.

It is important to understand that "dominant" does not mean an allele is more common in the population—lethal dominant alleles are very rare, for instance. Nor does dominant necessarily mean an allele will spread through the population. Likewise, "recessive" does not necessarily mean an allele will become less common. Indeed, the Hardy-Weinberg equilibrium shows conditions under which allele frequencies remain unaltered over generations.

gametes reproductive cells, such as sperm or eggs

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