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In both haploid and diploid organisms, new alleles are created by spontaneous
mutations. These mutations can arise in a variety of ways, but the effect is a
different sequence of nucleic acid bases in the DNA. The genetic code is “read”
as a series of codons or triplets of nucleic acid bases that correspond to
individual amino acids. A mutation causes the sequence of amino acids to
change, either in a simple or drastic way. Simple changes that only affect a few
amino acids can produce multiple alleles in a population, all of which function in
almost the same way, just to a different degree. Other mutations cause large
changes in the protein created, and it will not function at all. Other mutations
give rise to novel forms of protein which may allow organisms to develop new
pathways, structure, and functions.
Most of the time, scientists focus on the phenotypes that are created by certain
alleles, and all alleles are classified by the phenotypes they create. However, a
given phenotype can be caused by a large number of mutations. While humans
have thousands of genes, they have over 3 billion base pairs. This means each
gene consists of many, many base pairs. A mutation in any base pair can cause a
new allele.
In domestic cats, breeding has taken place for thousands of years selecting for
different and varied coat colors. Cats can be seen with long hair, short hair, and
no hair. There are genes that code for whether or not a cat will have hair. There
are multiple alleles for this gene, some that produce hairless cats, and some that
produce cats with hair. Another gene regulates the length of the hair. Long
haired cats have two recessive alleles, while a dominate allele will produce short
hair.
Other genes control the color of coat. There is a gene for several colors of
pigment: red, black and brown. Each gene has multiple alleles in the population,
which express the protein responsible for making the pigment. Each allele
changes the way the protein works, and therefore the expression of the pigment
in the cat. Other genes, in similar ways, control traits for curliness, shading,
patterns, and even texture. The amount of combinations and expressions of
different genotypes together creates an almost infinite variety of cates. For this
reason, cat breeders have been successfully attempting for thousands of years to
create new and strange varieties of cats, and dogs for that matter. Even with
only 4 alleles between two parents at each gene, the variety can be incredible.
Just look at the kittens in the photo above. All these kittens came from the same
parents.
Fruit Flies
In the year 2000, scientist finally succeeded in mapping the complex genome of
the common fruit fly, Drosophilia melanogaster. The fruit fly had been, and
continues to be, a valuable laboratory animal because of its high reproduction
rate and the simplicity of keeping and analyzing large quantities of flies. At about
165 million base pairs, the DNA of a fruit fly is much smaller than that of a
human. While a human has 23 chromosomes, a fruit fly only has 4. Still, in only
chromosomes, there exists around 17,000 genes. Each gene controls a different
aspect of the fly, and is subject to mutation and new alleles arising.
In the picture above, all the flies are the same species Drosophilia melanogaster.
The variation seen between the flies is caused by multiple alleles, in different
genes. For instance, the gene for eye color determines if the fly will have an
orange/brown eye, a red eye, or a white eye. Both the white and orange alleles
are recessive to the wild type red eye allele. The two flies at the top have wild
type bodies, a tan with dark stripes. In the gene that controls body color, two
other alleles are present. The fly on the far right is showing a homozygous
recessive genotype that causes a dark body. The three flies on the bottom show
another homozygous recessive genotype, the yellow body mutation.
Other traits include everything from how the wings form, to the shape of the
antennae, to the enzymes produced in the fly’s saliva. Although 17,000 genes
may not seem like that many, the total number of alleles in a population makes
the total variety much higher than that. Each newly mutated allele adds another
combination to the almost infinite pool of genetic variety.
Quiz
1. A mutation arises in a gene that causes a very minor change in the
protein produced. The changes are so minor that the protein functions
in practically the same way. So, although a new allele was produced, it
is not that much different from the wild-type, or most common allele.
Will this allele persist in the population?
A. Yes
B. No
C. Maybe
Answer to Question #1
2. In some genes with multiple alleles, when the alleles are together in
a genotype they express their influence equally in the phenotype. This
is known as incomplete dominance. However, other alleles in the
population may not express themselves equally, and are considered
recessive. If an organism with two dominant alleles and an
incompletely dominant phenotype breeds with an organism with two
recessive alleles, what will the offspring look like?
A. They will look like one or the other dominant alleles.
B. They will be something in between the two parents.
C. They will also show incomplete dominance.
Answer to Question #2
3. Often, breeders of animals aim to breed “true” lines. This means that
generation after generation, the animals will look almost exactly the
same, and the number of different alleles in a population is reduced.
Why would this be important for scientific research?
A. It is not important.
B. Stable organisms ensure that the experiment can be repeated.
C. More variety is good for research.
Gregor Mendel only studied traits in his pea plants that showed simple or
complete dominance and had only two alleles that could contribute to any one
trait the plant showed. It wasn't until later that it was discovered that some traits
can have more than two alleles that code for their phenotypes. This allowed many
more phenotypesto be visible for any given trait while still following Mendel's
Laws of Inheritance.
Most of the time, when multiple alleles come into play for a trait, there is a mix of
types of dominance patterns that occur. Sometimes, one of the alleles is
completely recessive to the others and will be masked by any of those that are
dominant to it. Other alleles may be co-dominant together and show their traits
equally in the phenotype of the individual.
There are also some cases where some alleles exhibit incomplete
dominance when put together in the genotype. An individual with this type of
inheritance connected to its multiple alleles will show a blended phenotype that
mixes both of the alleles' traits together.
Type AB blood is an example of co-dominance. The A allele and the B allele are
equal in their dominance and will be expressed equally if they are paired together
into the genotype IA IB. Neither the A allele or the B allele is dominant over each
other, so each type is expressed equally in the phenotype giving the human an AB
blood type.
MULTIPLE ALLELES
It makes absolutely no sense whatsoever to continue if we
don't know what the word "allele" means.
SOME BACKGROUND
When the gene for one trait exists as only two alleles &
the alleles play according to Mendel's Law of Dominance,
there are 3 possible genotypes (combination of alleles) &
2 possible phenotypes (the dominant one or the recessive
one).
GENOTYPES RESULTING
Homozygous Dominant PHENOTYPE
(YY) Yellow
Heterozygous (Yy) Yellow
Homozygous Recessive Green
(yy)
where
Y = the dominant allele for yellow &
y = the recessive allele for green
GENOTYPES RESULTING
BB = Homozygous PHENOTYPE
Black Black Fur
BW = Heterozygous Grey Fur
WW = Homozygous White Fur
White
where
B = allele for black &
W = allele for white
GENOTYPES RESULTING
BB = Homozygous PHENOTYPE
Black Black Fur
BW = Black & White
Heterozygous Fur
WW = Homozygous White Fur
White
where
B = allele for black &
W = allele for white
Why?
CODES FOR
ALLELE Type "A"
Blood
IA
Type "B"
IB Blood
i Type "O"
Blood
Wwwwwwwwwwwwwwwwrrrrrrrrrrrr
GENOTYPES RESULTING PHENOTYPES
IAIA Type A rrrrrrrrrrrrrryyyyyyyyyyyyww
IAi Type A wwwwwwwwwwwwwwwwwwrrrrrrrrrr
II
B B
Type B rrrrrrrrrrrrrrrrrrrryyyyyyyy
IBi Type B wrrrrrrrrrrrrrrrrrrrrrrrrrrr
IAIB Type AB rrryyyyyyyyyyyyyyyyywwwwwwww
ii Type O wwwwwwryyyyyyyyyyyyyywwwwwww
wwwwwwwwwwwwwwwwwwwwwwwwwwww
wwwwwrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrr
rrrrryyyyyyyyyyyyyyyyyyyyyyyyy
mudamudamudamudamudamudamudamudamudamudamudamudamuda
Notes:
SAMPLE QUESTIONS
biotopics page
click here
Solve this using the symbols for blood type alleles & the good old punnett square. Step #1,
figure out the genotypes of ma & pa using the given info. "Woman with Type O" must be
ii, because that is the one & only genotype for Type O. "Man who is AB" must be IAIB,
again because it is the one & only genotype for AB blood.
So our cross is: ii x IAIB. The proper p-square would look like this:
2. What are the possible blood types of a child who's parents are both
heterozygous for "B" blood type?
Step 1 - determine genotypes of parents using info in the question.
Heterozygous means one dominant & one recessive allele. Since they are Type "B", the
dominant allele is IB, & the only recessive allele for blood type is "i". So the both parents
are IBi, & the cross is IBi x IBi.
Step 2 - our friend the punnett sqaure:
3. What are the chances of a woman with Type AB and a man with Type A having
a child with Type O?
OK, no sweat. The genotypes of the parents are kindly supplied to us, so it's just of matter
of using the punnett square correctly. But wait a minute, we don't know whether the dad is
homozygous A (IAIA) or heterozygous A (IAi). Hmmmm ....
Well, let's just go with what we know. We'll just use a "?" for the unknown allele.
Correct use of a p-square should lead you to something that resembles this:
4. Determine the possible genotypes & phenotypes with respect to blood type
for a couple who's blood types are homozygous A & heterozygous B.
5. Jill is blood Type O. She has two older brothers (who tease her like
crazy) with blood types A & B. What are the genotypes of her parents with
respect to this trait?
With some careful thinking we don't even need to do the p-square thing. Jill is Type O,
meaning her genotype is "ii". This means that her parents each have at least one "i" in
their genotype (since she inherited one from each parent).
Since one brother is Type B, one of the parents must have the IB allele, making that parent
IBi.
And since the other brother is Type A, the other parent must have the IA allele & have a
genotype of IAi.
There you have it. Jill's parents are IAi & IB , and her brothers shouldn't be so mean.
on to #6
Possible
offsprin
g of
Woman x Dude #2 Woman
Woman x Dude #1
IBi x IAIB & Dude
IBi x ii Possible
#1
offsprin
g of
25%
Woman
chance
& Dude
AB
#1
child
25%
50%
chance
Type B,
A child
50%
50%
Type O
chance B
child
The child is Type A, so dude #1 cannot be the father. Dude #2 could be.
The question can be answered more "quickly" be realizing that since the child's blood type
is different from his mom, that allele must have come from dad. So the "A" allele that
makes him Type A came from dad, & dude #2 is the only one with that allele in his
genotype (IAIB). Dude #1 doesn't have any IA alleles, he's type O (ii).