It may be that the heterozygote is not quite normal but does show some
ill effects—not enough to incommode him seriously, perhaps, but enough
to lower his chances slightly for mating and bearing children. In that
case, the equilibrium level for that gene will be lower than it would
otherwise be.
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_.
Public-domain text, read in full here on John Shaqi.
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