Module 3
Mendelian Genetics
At the end of this module you are expected to:
1. Define basic terminologies used Mendelian genetics;
2. Understand the principles of the Law of Segregation and Law of Independent
Assortment;
3. Learn to use the Punnett square;
4. Appreciate the importance of Mendelian genetics in our daily lives.
Mendelian Genetics
A. The basic rules of inheritance were first demonstrated by Mendel
o at the time of Mendel’s work, most thought that parental traits were fluids
that “blend” in offspring
o Mendel recognized that this model did not explain what he observed
o Mendel chose a model system and carefully established testing conditions
▪ he used pea plants that he could outcross or allow to self-fertilize
▪ he chose traits that had two clear possible outcomes (yellow or green
seeds, etc.)
▪ he established true-breeding or “pure” lines to use for genetic
crosses
o terminology for genetic crosses
▪ P generation (or P1) = parental generation
▪ F1 generation = first generation offspring (from filial)
▪ F2 generation = second generation offspring
▪ phenotype – appearance or characteristic of an organism
▪ genotype – genetic makeup of an organism, determines phenotype
▪ gene – unit of heredity; controls a trait that determines a phenotype
▪ locus – the location of a particular gene on a chromosome
▪ alleles – alternative versions of a gene
▪ dominant – allele that dominates over others in determining
phenotype
▪ recessive – allele whose phenotypic expression is “hidden” when a
dominant allele is present
▪ hybrid – offspring from a cross between two “pure” lines of different,
competing phenotypes
B. Rules and terminology for examination of genetic inheritance
● Mendel’s law of segregation
o when Mendel crossed pure lines of different, competing phenotypes, he
found that the F1 generation was uniform and matched one of the
parents’ phenotypes
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▪ example: P1 yellow seed X green seed all F1 yellow seed
o when F1 plants were crossed or selfed, the F2 plants had both P1
phenotypes in a ratio of roughly 3:1
▪ using offspring from above F1 X F1 F2 3 yellow seed: 1 green
seed
o thus, contrary to the popular belief of the time, recessive traits are not
lost in a mixing of parental phenotypes – they are merely hidden in some
“carrier” individuals
o Mendel explained these ratios with what we now call his law of
segregation; stated in modern terms: individuals normally carry two
alleles for each gene, these alleles must segregate in production of sex
cells
o later investigations of cell division revealed the mechanism for
segregation: the pairing and subsequent separation of homologous
chromosomes during meiosis
● Genotype vs. Phenotype
o phenotype is the actual appearance or characteristic, and is determined
by genotype; knowing the phenotype will not always directly reveal the
genotype (recessive traits can be masked)
o genotype is the listing of the actual alleles present; if you know the
genotype, you should be able to predict the phenotype
o genotypes are either homozygous or heterozygous
▪ homozygous – the homologous chromosomes have the same
allele at the locus in question
▪ heterozygous – the homologous chromosomes have different
alleles at the locus; if there is a dominant allele the trait of the
dominant allele will be expressed
o the same letter is used to indicate all alleles (superscripts or subscripts
are sometimes needed, if there are more than 2 alleles known)
o DOMINANT ALLELES ARE CAPITALIZED; recessive alleles are
lowercase
● Rules of probability govern genetic inheritance
o the likelihood of a sex cell carrying a particular allele is determined by
probability, its expected frequency of occurrence (expressed in
fractions, decimal fractions, percentages, or ratios)
o the combination of sex cells to form a zygote is generally ruled by
probability as well
o thus, the rules of probability govern genetics
o product rule – when independent but not mutually exclusive events are
combined, you multiply their individual probabilities to get the overall
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probability of the result (genetic crosses, X, are multiplications of
probabilities)
o sum rule – if there is more than one way to obtain a result (mutually
exclusive events), you add their individual probabilities to get the overall
probability of the result
▪ the sum of all possibilities is one (no more, no less)
● Punnett square – way of diagramming genetic crosses that uses the laws of
probability
● More terminology
o Test cross – mating an individual that has the dominant phenotype for
a trait with an individual with the recessive phenotype; this often will
reveal the genotype of the
dominant parent, or at least give
some idea of the probably
genotype
o Monohybrid cross – cross
between individuals that are
both heterozygous for the gene
that you are following; note that
these give a 3:1 phenotype ratio
and a 1:2:1 genotype ratio
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C. Expanding the rules and terminology to follow
two (or more) genes in a cross
● Law of independent assortment
o dihybrid cross – cross between
individuals that are both heterozygous
for two different genes that you are
following
o this led to Mendel’s law of independent
assortment: segregation of any one pair
of alleles is independent of the
segregation of other pairs of alleles
o we now know that this is also a
consequence of events in meiosis
o this doesn’t hold perfectly true for all
genes
● Genetic linkage – independent assortment
does not always occur
o independent segregation of
chromosomes during meiosis I leads to
independent assortment
o independent assortment can lead to recombination
▪ recombination – any process that leads to combinations of
genotypes not seen in the parents
▪ recombinant gametes – gametes that display a recombinant
genotype
▪ recombinant offspring – offspring whose phenotype reveals that
they inherited genes from a recombinant gamete
o genes that are on the
same chromosome
may not sort
independently; such
genes are said to be
linked
o genetic maps of
chromosomes
▪ percentage of
crossing over
or
recombination
is calculated
from 100 times
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the number of recombinant offspring divided by the total number of
offspring
▪ map unit – by convention, one map unit = 1% recombination (the
term cM or centiMorgan is sometimes used for map units, in honor
of a pioneer in gene mapping)
▪ map distances between
genes on the same
chromosome are
measured in map units
▪ linkage group = all genes
on a particular
chromosome; tend to be
inherited together
▪ placement of a gene into
a position in a linkage
group is genetic
mapping
▪ map distances get less
meaningful as they get large
● as genes get further apart, the odds of multiple crossing over
events between them increase
● when distances approach 50 map units, the genes appear
essentially unlinked
● many chromosomes have an overall map length of well over
50 map units
▪ genetic maps are useful in locating the actual physical location of
genes
Beyond simple genetics: Exceptions of Mendelian Genetics
● We have already seen that modifications must be made to Mendel’s laws for
linked genes; there are other situations that do not fit the “simple” cases that
Mendel used
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● incomplete dominance – the
heterozygote has a phenotype that is
intermediate between the two
homozygous states
o really, the term dominance has no
true meaning here
o example: black, blue, and white
Andalusian chicken
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● codominance – ; very much like
incomplete dominance
o not an intermediate form, instead you see each allele distinctly expressed
o roan cattle, expressing both red
and white hairs, are a good example (the
difference between incomplete dominance
and codominance is essentially a case of
splitting hairs)
o one of the best examples is the
ABO human blood type
● multiple alleles – it is very
common for there to be more than two
allele types for a given locus; any time
there are three or more alleles types
involved, we say that there are multiple
alleles
o dominance relationships can vary between multiple alleles
o example: rabbit coat color is influenced by
a gene that has four known alleles
o example: human ABO blood types
o the main blood type is determined by a
single locus with three known alleles (IA,
IB, iO)
o IA and IB alleles are codominant with
respect to each other
▪ the IA allele leads to the expression of
type A antigen on the surface of red
blood cells
▪ the IB allele leads to the expression of type B antigen on the surface of
red blood cells
o iO is a recessive allele; the iO allele does not lead to expression of a cell
surface antigen
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o resulting blood types:
▪ IAIA or IAiO genotype produce only the A antigen; blood type A
▪ IBIB or IBiO genotype produce only the B antigen; blood type B
▪ IAIB genotype produces both the A antigen and B antigen; blood type
AB
▪ iOiO genotype produces no A or B antigens; blood type O
o blood type is used in paternity or maternity cases only as a means to rule
out possible parents
***One gene, many phenotypes
Pleiotropy: one gene, many phenotypes
● one gene affects more than one characteristic
● usually only one gene product is directly involved, and its status affects many
things
● many disease genes are pleiotropic (examples, cystic fibrosis, sickle cell
anemia)
● Pleiotropy is the expression of multiple traits by a single gene.
● Gene pleiotropy is focused on the number of traits and biochemical factors
impacted by a gene.
● Developmental pleiotropy is focused on mutations and their influence on
multiple traits.
● Selectional pleiotropy is focused on the number of separate fitness
components affected by a gene mutation.
● Antagonistic pleiotropy is focused on the prevalence of gene mutations that
have advantages early in life and disadvantages later in life.
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● Pleiotropy Examples
● An example of pleiotropy
that occurs in humans
is sickle cell disease.
o Sickle cell
disorder results
from the
development of
abnormally
shaped red blood
cells.
o Normal red blood
cells have a
biconcave, disc-
like shape and
contain enormous amounts of a protein called hemoglobin.
o Hemoglobin helps red blood cells bind to and transport oxygen to
cells and tissues of the body.
o Sickle cell is a result of a mutation in the beta-globin gene.
o This mutation results in red blood cells that are sickle-shaped, which
causes them to clump together and become stuck in blood vessels,
blocking normal blood flow.
o The single mutation of the beta-globin gene results in various health
complications and causes damage to multiple organs including
the heart, brain, and lungs.
● The frizzled feather trait is an
example of pleiotropy seen in chickens.
● Chickens with this particular mutated
feather gene display feathers that curl
outward as opposed to lying flat.
● In addition to curled feathers, other
pleiotropic effects include a faster
metabolism and enlarged organs.
● The curling of the feathers leads to a
loss of body heat requiring a faster
basal metabolism to maintain
homeostasis.
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● Other biological changes include higher food consumption, infertility, and
sexual maturation delays.