The difference between genotypes and phenotypes is the key to
understanding the transmission of human genetic diseases. Many
genetic diseases are caused by an allele that produces a broken worker
that can't do its job. Hemophilia (an inability to clot blood
and form scabs), phenylketonuria (an inability to properly
metabolize some amino acids), and Tay-Sachs disease (an
inability to break down a molecule in nerves) are like this. The
alleles for these genetic diseases are recessive. If a person has one
Instruction Book with a broken-worker allele, and their other
Instruction Book contains an allele for a functional worker, they
suffer no effects from the broken one. These people have normal
phenotypes, but their genotype contains one broken-worker allele.
Since these people carry an allele for the disease, but are otherwise
normal, they're called carriers of the disease.
In general, being a carrier for a genetic disease isn't all that bad.
Not only do carriers not suffer from any effects, their children
aren't likely to either. Why? Because most genetic diseases are
rare, so most people they'd have children with have two functional
alleles. When a carrier has children with a normal person, each of
their children has a fifty-fifty chance of being normal (two
functional alleles) and a fifty-fifty chance of them being carriers
(one functional allele and one broken-worker allele). However, when
two carriers have children, the situation is different. Each carrier
has a fifty-fifty chance to pass either of their two alleles on, one
of which produces broken workers. As a result, each child has a 25
percent chance to be normal (with two functional alleles), a 25 percent
chance to suffer from the genetic disease (because of two broken-worker
alleles), and a 50 percent chance to be a carrier (with one of each
allele). Sadly, before the invention of genetic testing the
only way to be sure if a person was a carrier was to produce children
with the genetic disease. (Of course, if a person's near relatives
had the genetic disease, they may have suspected that they were a
carrier.)
Where a trait is produced by multiple
Instructions, each Instruction can have multiple alleles, leading
to many possible traits or many ways to get the same trait. For
instance, we mentioned above that the ability to drink alcohol without
getting drunk is determined by an allele for alcohol dehydrogenase I.
This isn't quite right, since it turns out that the other worker in
the alcohol-detoxifying pathway, aldehyde dehydrogenase, has two alleles.
Since these also differ in how well the workers they make carry out
their jobs, humans possess many levels of alcohol tolerance, ranging
from almost none (slow varieties of both workers in both Instruction
Books) to very high (fast varieties of both workers in both
Instruction Books), and many combinations in between. (This is still
a bit simplified, since other workers affect alcohol metabolism
slightly. Other non-genetic factors, such as a person's weight, also affect
alcohol metabolism.)
While we've been discussing traits and Instructions in living things
as if they were traits and instructions to make manufactured goods,
this isn't always the case. For example, in putting together a
bicycle, we can see that certain instructions are clearly related to
traits. For instance, the bicycle's color is set by the Instruction
that says what color to paint it. The color Instruction doesn't
change any other trait the bicycle has. In living things, however,
workers produced by Instructions are often very similar, and can
sometimes do the job of another worker. When we discussed specificity we mentioned
that alcohol dehydrogenase III is capable of working on ethyl alcohol
a little bit. Even though this isn't its normal job, it can do it.
So, even if a person's two Instruction Books both contain Instructions
that produce broken alcohol dehydrogenase I, he might be able to
tolerate a little alcohol because he has another worker that can sort
of do the job.
This sort of "compensation" is pretty rare in man-made things. However,
it does show up once in while. For instance, when a factory makes a bicycle,
it might be out of the 1-inch-long screws that hold the brake pads onto the
brakes. The workers might be able to get away with using 1.5-inch-long screws.
Although the brakes would look funny, they might work.
The differences between genotypes and phenotypes -- whether caused by
the effects of Instructions with multiple alleles or by "compensating"
workers and pathways -- complicate the task of trying to figure out
what Instructions go with what traits. This is especially hard if one
is starting with traits, and trying to figure out what Instructions
might go with them. Despite the tremendous difficulty of this
problem, this is what mass breeders must do when they try to improve
organisms via artificial
selection.
How can people improve organisms by breeding them? What part gets
changed in this improvement? The answer, of course, is the organism's
Instruction Book. As organisms grow and reproduce, they copy their
Instruction Books. Let's take a look at how they do that. Along the way,
we'll see how and why the Book changes as it's copied.