Mendel's laws of segregation and independent assortment
are excellent for the study of individual organisms and their progeny,
but they say nothing about how alleles move through a population over time.
Our first question is: when can we assume that the ratio of an allele in a population,
called the allele frequency, is stable?
G. H. Hardy and Wilhelm Weinberg independently considered
this question at the turn of the 20th Century, shortly after Mendel's ideas had been rediscovered.
They concluded that the percentage of an allele in a population of
individuals is in genetic equilibrium when five conditions are satisfied:
- The population is so large that random changes in the allele frequency are negligible.
- No new mutations are affecting the gene of interest;
- The gene does not influence survival or reproduction, so that natural selection is not occurring;
- Gene flow, or the change in allele frequency due to migration into and out of the population, is negligible.
- Mating occurs randomly with respect to the gene of interest.
The Hardy-Weinberg principle states that if a population is in genetic equilibrium
for a given allele, then its frequency will remain constant and evenly distributed
through the population.
Unless the gene in question is important to survival or reproduction,
Hardy-Weinberg usually offers a reasonable enough model of population genetics.
One of the many benefits of the Mendelian theory of inheritance and simplifying models
like Hardy-Weinberg is that they help us predict the probability with which genetic
diseases will be inherited, so as to take appropriate preventative measures.
Genetic diseases are usually caused by mutations to chromosomes,
which are passed on to subsequent generations.
The simplest and most widespread case of a genetic disease is a single gene disorder,
which is caused by a single mutated gene. Over 4,000 such
human diseases have been identified, including cystic fibrosis and sickle-cell anemia.
In both of these cases, the individual must possess two recessive alleles for a gene in order
to contract the disease. Thus, carriers can live their entire lives without knowing
that they can pass the disease on to their children.
The above introduction to genetic equilibrium leaves us with a basic and yet very practical question regarding gene disorders:
if we know the number of people who have a disease encoded by a recessive allele, can we predict the
number of carriers in the population?