It may also be that the heterozygote experiences an actual advantage over the normal individual under some conditions. There is a recessive gene, for instance, that produces a serious disease called sickle-cell anemia. People possessing two such genes usually die young. A heterozygote possessing only one of these genes is not seriously affected and has red blood cells that are, apparently, less appetizing to malaria parasites. The heterozygote therefore experiences a positive advantage if he lives in a region where the incidence of certain kinds of malaria is high. The equilibrium level of the sickle-cell anemia gene can, in other words, be higher in malarial regions than elsewhere.
Here is one subject area in which additional research is urgently needed. It may be that the usefulness of a single deleterious gene is greater than we may suspect in many cases, and that there are greater advantages to heterozygousness than we know. This may be the basis of what is sometimes called “hybrid vigor”. In a world in which human beings are more mobile than they have ever been in history and in which intercultural marriages are increasingly common, information on this point is particularly important.
Mutation Rates
It is easier to observe the removal of genes through death or through failure to reproduce than to observe their production through mutation. It is particularly difficult to study their production in human beings, since men have comparatively long lifetimes and few children, and since their mating habits cannot well be controlled.
For this reason, geneticists have experimented with species much simpler than man—smaller organisms that are short-lived, produce many offspring, and that can be penned up and allowed to mate only under fixed conditions. Such creatures may have fewer chromosomes than man does and the sites of mutation are more easily pinned down.
An important assumption made in such experiments is that the machinery of inheritance and mutation is essentially the same in all creatures and that therefore knowledge gained from very simple species (even from bacteria) is applicable to man. There is overwhelming evidence to indicate that this is true in general, although there are specific instances where it is not completely true and scientists must tread softly while drawing conclusions.
The animals most commonly used in studies of genetics and mutations are certain species of fruit flies, called Drosophila. The American geneticist, Hermann J. Muller, devised techniques whereby he could study the occurrence of lethal mutations anywhere along one of the four pairs of chromosomes possessed by Drosophilia.
A lethal gene, he found, might well be produced somewhere along the length of a particular chromosome once out of every two hundred times that chromosome underwent replication. This means that out of every 200 sex cells produced by Drosophilia, one would contain a lethal gene somewhere along the length of that chromosome.
Geneticist Hermann J. Muller studying Drosophila in his laboratory. Dr. Muller won a Nobel Prize in 1946 for showing that radiation can cause mutations. (See [page 34].)