Mendelian Genetics

Who is Gregor Mendel?

Gregor Mendel was a monk that grew and experimented with garden pea plants in his
abbey garden. His experiments led him to develop his theory of inheritance. Mendels theories
and findings have served as the foundation and origin for modern genetics.

Mendels Model
Throughout Mendels many pea plant experiments, he consistently observed a 3:1
inheritance pattern with the F2 offspring. To explain his observations he created a model
consisting of four key concepts:
Concept #1: Alternative versions of genes, also known as alleles, account for variations
in inherited characters.
Concept #2: For each character, an organism inherits two alleles, one from each parent.
Concept #3: If the two alleles at a locus differ, then the dominant allele determines the
organisms phenotype; the other allele has no noticeable phenotypic effect.
Concept #4: Law of Segregation: The law of segregation states that two alleles for a
heritable characteristic segregate during gamete formation. Mendel discovered this basic
principle of heredity by breeding garden peas in carefully planned experiments. The law of
segregation is the first of two of the Laws of inheritance.

Important Vocabulary
Aside from the pre req terms that you should own; such as a trait, phenotype, genotype,
along with a few others listed, you also need to know the following:
P generation- the parent individuals from which offspring are derived in studies of
inheritance
F1 generation- the first filial, or hybrid, offspring in a series of genetic crosses
F2 generation- offspring resulting from the interbreeding of the hybrid F1
generation
Punnett squares- a diagram used in the study of inheritance to show the
predicted results of random fertilization in genetic processes

Heterozygous- having two different alleles for a given gene
Homozygous-Having two identical alleles for a given gene
Monohybrids- an organism that is heterozygous with respect to a single gene of
interest
 Monohybrid Cross- The crossing of two organisms, within a punnett square, of
the same species that are both heterozygous with respect for a single gene to show the
predicted results of random fertilization in genetic processes

Testcross- breeding an organism of unknown genotype with a homozygous
recessive individual to determine the unknown genotype. The ratio of phenotypes in the
offspring reveals the unknown genotype

Law of Independent Assortment

The second of mendel's two laws of inheritance states that each pair of alleles
segregates independently of each other pair during gamete formation. This law is the result of
Mendels dihybrid experiments in which he followed two characteristics (for example: flower
color and flower height).
A dihybrid is an organism that is heterozygous with respect to two genes of interest.
A dihybrid cross is the crossing of two organisms, within a punnett square, of the same
species that are both heterozygous with respect for two genes to show the predicted results of
random fertilization in genetic processes.

Probability
The rules of probability apply to laws of segregation and independent assortment and
would be similar to that of flipping a coin or rolling a dice. The probability scale ranges from zero
to one. One represents that the event is certain to happen; the latter determines that the event
is certain not to occur. There are two probability rules that we are going to focus on, the
multiplication rule and the addition rule.
The multiplication rule is used when we need to determine the probability of multiple
events. An example of this is flipping two coins. A single coin landing heads has a probability of
, since we will be flipping two coins we must multiply the probability for each coin together.
Therefore we will have x which equals . This rule can also be applied to monohybrid
crosses.
The addition rule is used when we need to determine the probability of any two or more
mutually exclusive events. It is calculated by adding their individual probabilities. This is also
known as the OR rule. Imagine rolling a dice. What is the probability of rolling a 3 OR 4 on a
dice? Since the probability of rolling a 3 on a six sided die is and the same goes for rolling a
4, we will add to which equals a chance of rolling a 3 or a 4 on a six sided dice.

Mendelian Patterns (vs non mendelian)

Let's start with single genes and inheritance of characteristics. Here we will be
comparing Mendel's patterns (M) to non mendelian patterns (NM). First we will start of with
single genes and two main patterns.
The first is degrees of dominance
M: complete dominance
NM: incomplete dominance and codominance
Second being Frequency of dominant alleles
M: Dominant alleles for a particular character would be more
common in a population
NM: this is not necessarily the case, for example: polydactyly - the
presence of a dominant allele means you have the condition but the low
frequency indicates the recessive allele is far more prevalent in the population

Moving on now to two or more genes, here we will view more differences in patterns between
Mendel and non mendelian patterns.
Epistasis
Meaning a gene at one locus alters the phenotypic expression of a
gene at a second locus

M: 9:3:3:1 is the phenotypic ratio for the F1 generation
 NM: different ratios can be produced but are some variation of
9:3:3:1
Polygenic Inheritance
M: character classification as either-or (one or the other)
NM: many characters in a population vary along a continuum (in
gradations)
These characters that vary along a continuum are also known as
quantitative characters and usually indicates polygenic inheritance. Polygenic
inheritance is when two or more genes affect a single phenotypic character. For
example, skin color.
Nature and nurture: the environmental impact on phenotype
Mendel states that phenotype depends on genotype while non mendelian
patterns show phenotype depends on environment and genotype. These characteristics
that depend on both environment and genotype are know as multifactorial
characteristics.
Phenotypic possibilities due to an environment-phenotypic range
for a genotype are called norms of reaction
Pedigree Analysis
A pedigree is a family's history for a particular trait in a family tree, describes the traits of
parents and children across multiple generations.
It can be used to calculate the probability a child will have a particular genotype and
phenotype. The following are examples of both autosomal dominant and recessive pedigrees.

Recessively Inherited Disorders (simple mendelian disorders)

Recessive alleles cause a genetic disorder by coding either a malfunctioning protein or
for no protein at all. All heterozygotes are carriers of the recessive allele but are normal
phenotypically. Those who are homozygous recessive (aa) have the disorder while those who
are homozygous dominant (AA) do not carry or have the disorder. It is common for genetic
disorders to not be distributed evenly throughout all groups of people. An example of this is with
Tay-sachs disease which is disproportionately high among jewish people whose ancestors lived
in central Europe. Other recessive diseases include cystic fibrosis, which is the most common
lethal genetic disease in the United States, and Sickle-cell disease which is the most common
inherited disorder among people of African descent.

Dominantly Inherited Disorders (simple mendelian disorders)

Dominant alleles that cause a lethal disease are much less common than a recessive
alleles that do so. All lethal alleles arise by mutations in cells producing gametes and can be
passed from generation to generation by heterozygous carriers with normal phenotypes. One
dominantly inherited disease is Huntington's Disease. It has a lethal dominant allele but shows
no phenotype until later on in age, allowing for the allele to possibly be transmitted to offspring.

Multifactorial Disorders have a genetic component plus a significant environmental influence

and include: Heart disease, Diabetes, Cancer, Alcoholism, Schizophrenia, and Bipolar disorder.
In many cases the hereditary component is polygenic. Lifestyle has major effect on phenotypic
expression

Genetic Testing/Counseling is used to determine the risk of offspring having certain diseases.
Tests include amniocentesis, CVS, ultrasounds, and fetoscopies.
Amniocentesis is a test where a needle is inserted into the uterus to extract 10 mL of
amniotic fluid. The test can be done between the 14th and 16th week of pregnancy. Some
genetic disorders can be identified by certain chemicals present in the fluid while others are
detected from cells that are cultured in a lab. To identify chromosomal defects medical
professionals will view a karyotype from the sample of the fluid.
Chorionic villus sampling, also known as CVS, is a test that can be performed during the
8th through 10th week of pregnancy. A narrow tube is inserted through the cervix into uterus
where it suctions out a sample of placenta. The cells sampled are from the fetus and have the
same genotype. Since the cells are derived from the fetus and are proliferating rapidly, it allows
for immediate karyotyping compared to the amniocentesis where the cells must be cultured first.
Ultrasounds are a non invasive procedure that uses sound waves to produce an image
of a fetus. There is no known risk to the mother or the fetus.
Lastly, a fetoscopy is an invasive procedure where a needle thin tube is inserted into
uterus the tube is equipped with fiber optics and a viewing scope to provide images of the fetus.
Mendelian Genetics Vocabulary
Character: An observable heritable feature
Trait: Any detectable variant in a genetic variable
True Breeding: Referring to plants that produce offspring of the same variety when they self pollinate.
Hybridization: The mating, or crossing, of two true-breeding varieties
P Generation: The parent individuals from which offspring are derived in studies of inheritance
F1 Generation: The first filial, or hybrid, offspring in a series of genetic crosses
F2 Generation: Offspring resulting from the interbreeding of the hybrid f1 generation
Alleles: Any alternative versions of a gene that produce distinguishable phenotypic effects
Dominant Allele: An allele that is fully expressed in the phenotype of a heterozygote
Recessive Allele: An allele whose phenotypic effect is not observed in a heterozygote
Law of Segregation: Two alleles in a pair segregate into different gametes during gamete formation
Punnett Square: A diagram used in study of inheritance to show predicted results of random fertilization in genetic
crosses
Homozygous: Having two identical alleles for a given gene
Heterozygous: Having two different alleles for a given gene
Phenotype: The physiological traits of an organism, which are determined by its genetic makeup
Genotype: The genetic makeup, or set of alleles, of an organism
Testcross: Breeding an organism of unknown genotype with a homozygous recessive individual to determine the
unknown genotype.
Monohybrids: An organism that is heterozygous with respect to a single gene of interest
Dihybrids: An organism that is heterozygous with respect to two genes of interest.
Law of Independent Assortment: Each pair of alleles segregates, or assorted, independently of each other pair
during gamete formation
Incomplete Dominance: The situation in which in the phenotype of heterozygotes is intermediate between the
phenotypes of individuals homozygous for either allele
Complete Dominance: The situation in which phenotypes of the heterozygote and dominant homozygote are
indistinguishable
Codominance: The situation in which the phenotypes of both alleles are exhibited in the heterozygote, because both
alleles affect the phenotype in separate, distinguishable ways
Pleiotropy: The ability of a single gene to have multiple effects
Epistasis: Type of gene interaction where one gene alters phenotypic effects of another gene that is independently
inherited
Quantitative characteristics: A heritable feature that varies continuously over a range rather than an either-or
fashion
Polygenic inheritance: An additive effect of two or more genes on a single phenotypic character
Norm of reaction: The range of phenotypes produced by a single genotype, due to environmental influences
Multifactorial: A phenotypic character that is influenced by multiple genes and environmental factors
Pedigree: A diagram of a family tree showing the occurrence of heritable characteristics in parents and offspring over
multiple generations
Carriers: An individual who is heterozygous at a given genetic locus, with 1 normal allele and 1 recessive allele.
Heterozygote is phenotypically dominant for character det. by gene but can pass on recessive allele to offspring
Amniocentesis: A technique of a prenatal diagnosis in which amniotic fluid, obtained by aspiration of a needle
inserted into the uterus, is analyzed to detect certain genetic and congenital defects in the fetus
Chorionic villus sampling (CVS): A technique of prenatal diagnosis in which a small sample of the fetal portion of
the placenta is removed and analyzed to detect certain genetic and congenital defects in the fetus
Ultrasound: High-frequency sound waves. Ultrasound waves can be bounced off tissues, the echoes are then
converted into a picture called a sonogram. Ultrasound imaging allows an inside view of soft tissues and body
cavities without the use of invasive techniques. Ultrasound is often used to examine a fetus during pregnancy.
Fetoscopy: a technique for looking directly at the foetus within the uterus (using a fetoscope).
Diseases:
Tay-Sachs Disease: A human genetic disease caused by a recessive allele for a dysfunctional enzyme, leading to
accumulation of certain lipids in the brain. Seizures, blindness, and degeneration of motor and mental performance
usually become manifest a few months after birth, followed by death within a few years
Achondroplasia: A hereditary condition in which the growth of long bones by ossification of cartilage is retarded,
resulting in very short limbs and sometimes a face that is small in relation to the (normal-sized) skull.
Cystic Fibrosis: A human genetic disorder caused by a recessive allele for a chloride channel protein; characterized
by an excessive secretion of mucus and consequent vulnerability to infection; fatal if untreated
Sickle-cell disease: A human genetic disease caused by a recessive allele that results in the substitution of a single
amino acid in a globin polypeptide that is part of the hemoglobin protein; characterized by deformed red blood
cells(due to protein aggregation) that can lead to numerous symptoms
Huntington's Disease: A human genetic disease caused by a dominant allele; characterized by uncontrollable body
movements and degeneration of the nervous system; usually fatal 10 to 20 years after the onset of symptoms

Review Sheet
Need to own!
Theory of inheritance
Mendels model and four key concepts; Law of segregation; Law of independent
assortment
Probability scale
Difference between addition rule and multiplication rule
Degrees of Dominance
Frequency of dominant alleles
Polygenic inheritance
Environmental impact of phenotype
Pedigree analysis: know difference between X-linked, Autosomal Dominant,
Autosomal Recessive
Simple Mendelian disorders
Multifactorial disorders
Genetic testing-purpose and types
Complete a dihybrid cross of two parents heterozygous for purple petals over
white petals and for the tall allele over the short allele

Complete a monohybrid cross of a homozygous dominant parent (AA) and a

homozygous recessive parent (aa)