Human Inheritance and Modern

Genetics
By: Tilak Patel & Sam Niakan
Genetics: The
Science of
Heredity
 Gregor Mendel
• Gregor Mendel was the father of genetics.
• He discovered the inheritance that is the foundation
of today’s science.
• He experimented with pea plants and found out that
traits were hereditary.
• Gregor Mendel, was a young priest from a
monastery.
• Even though he built the foundation of genetics, he
was not recognized for his achievement for 30 years.
 Mendel’s Work
• Gregor Mendel experimented with
thousands of pea plants to understand
the process of heredity.
• Genetics is the scientific study of
heredity
• Heredity is the passing of traits from
parent to offspring.
• Traits are physical characteristics.
 Mendel’s Work
• Peas readily cross pollinate in nature
• Peas have many traits that exists in two forms.
• In a flower, the female sex cells, or eggs, are
produced by the pistils.
• The male sex cells are produced by the stamens.
• Mendel studies pod color, seed shape, flower
position.
• The principals of probability can be used to predict
the results of the genetic crosses.
 Mendel’s Work
Purebred tall plants are crossed with purebred tall plants

F1 offspring are all tall

F1 offspring are allowed to self pollinate

F1 are ¾ tall and ¼ short

Dominant & Recessive
Alleles
• Genes are factors that control traits.
• Alleles are different forms of genes.
• Dominant alleles always show up in the
organism when the allele is always present.
• Dominant alleles mask recessive alleles.
Probability &
Genetics
 Probability & Punnett
Squares
• The likelihood that a particular event will
occur is called probability
• A chart that shows all the possible
combinations of alleles that can result from a
genetic cross is called a Punnett Square.
 Dominant
Alleles

Recessive
Alleles
Phenotypes & Genotypes
• Phenotype is an organism’s physical
appearance, or visible traits.
• Genotype is an organism’s genetic makeup,
or allele combination.
• Homozygous is an organism with two
identical alleles for a trait.
• Heterozygous is an organisms that has two
different alleles for trait. (Hybrid)
Codominance
• In codominance, the
alleles are neither
dominant nor recessive.
 The Cell &
Inheritance
• The male sex cell is a
sperm.
• The female sex cell is a
egg.
 Chromosomes &
Inheritance
• Grasshopper sex cells have half the number
of chromosomes as body cells
• When grasshopper sex cells join, the
fertilized egg has the same number of
chromosomes as the body cells of the
parents.
• Genes are carried from parent to their
offsprings on chromosomes.
 Genes
• You got your genes from your parents.
• DNA stands for Deoxyribonucleic Acids
• DNA determines your physical traits
• The relation between DNA and chromosomes are long DNA molecules.
• Humans have 23 pairs of chromosomes.
• Humans have 80,000 genes
• You get 23 chromosomes from each parent, making 23 pairs, through the process
of Meiosis.
• There are four different chemicals that make up genes. They include adenine,
thymine, cytosine, and guanine.
• Although majority of the time, only animals of the same species can produce
offspring, sometimes animals of different species and produce offspring. A good
example of this is a mule, half donkey, half horse.
• The dominant allele is an allele that overpowers a recessive allele. Parents’
alleles determine the offspring’s traits.
• Dominant alleles are written with a capital letter while recessive allele is
represented with a lowercase letter.
 Meiosis Visual
Chromosomes Double
Normal cell with 4
1 Cell Division
st
pairs of
Cell with 8 pairs of chromosomes.
chromosomes
2 normal cells
with 4 pairs of
chromosomes.

2nd Cell 4 cells with

Division half of the
chromosomes.

• Meiosis is the process by which the number of chromosomes

are reduced to half to form sex cells.
 Meiosis, Punnett Squares,
Mutations, & Chromosomes
• A Punnett square is just a short hand way to show the
events that occur at Meiosis.
• Human body cells contain 23 pairs, or 46 chromosomes.
• Being larger does not necessarily mean that the
organism will have more chromosomes.
• Mutations can be helpful, harmful, or neither
• Mutations that occur in body cells only affect the cell
that carries it.
• Mutations that occur in body cells only affect the cell
that carries it.
 Meiosis Vs. Mitosis

Meiosis
Mitosis
• For sex cells
• For body cells Both
• Chromosomes
• Same as the • Cell paired by different
parent cell Reproduction
• Chromosomes chromosomes
Cycle from each parent.
are not • Chromosomes • Chromosomes are
attached. are copied
• Cell originates attached to each
other in pairs
from same cell.
• Cell originates
• Two cell are
from two different
produced.
sex cell.
• Four cells are
produced.
Modern
Genetics
Human Inheritance
 Many Alleles
• Many human traits are controlled by a single allele.
• Some human genes are controlled by a single gene,
but it has more than 2 alleles.
– These are multiple alleles,
• Three or more forms of a gene that code for a single trait.
– Example- Blood Type is a trait that is controlled by a gene with multiple alleles.
 Many Genes
• Some human traits show a large number of phenotypes
because the traits are controlled by many genes. The genes
act together as a group to produce a single trait.
– Height & Skin Color are both examples of human traits controlled by many
genes.
• When more than one gene controls a trait there are many possible combinations of genes
and alleles.
 Gender
• Your gender is controlled by genes on chromosomes.
– Female=XX
– Male=XY
• Whether you inherit an X or Y chromosome from your father determines
your gender.
• Genes on the X and Y chromosome are often called Sex-Linked Genes.
• Traits controlled by sex-linked genes are often called Sex-Linked Traits.
– Because males have 2 sex chromosomes, males are more likely than females to have sex-
linked traits that is controlled by a recessive allele.
• Ex: red-green colorblindness.
• A Carrier is a person who has one recessive allele for a trait and one
dominant allele. Although the carrier does not have the trait , the carrier
can pass the recessive allele onto his or her offspring.
 Pedigrees
• Geneticists interested in studying inheritance patterns in
humans need to trace the inheritance of traits through many
generations in families.
• A pedigree is a chart or “family tree” that tracks which
members of a family have a particular trait.
– Male is represented with a
– Female is represented with a
• A genetic disorder is an abnormal condition that a person inherent
through genes or chromosomes.
• Genetic disorders are caused by a mutations or changes in a person’s
DNA.
Human Genetic Disorders
Human Genetic Disorders
• A genetic disorder is an abnormal condition
that a person inherits through genes on
chromosomes.
• Genetic disorders are caused by mutations or
changes in a person’s DNA.
 Cystic Fibrosis
• Cystic Fibrosis is a genetic disorder in which
the body produces abnormally thick mucus in
the lungs and intestines.
– This makes it hard to breath and digest food.
– The allele that causes cystic fibrosis is recessive.
– There is no cure.
 Sickle-Cell Disease
• Sickle-Cell Disease causes abnormal hemoglobin.
• This causes a lack of oxygen in the blood, pain, &
weaknesses.
• The allele that causes the sickle cell disease is
codominant with the normal allele.
– People with two sickle cell alleles have the disease
– People with one sickle cell allele produce both normal and abnormal
hemoglobin but usually do not have symptoms of the disease.
• There is no cure.
 Hemophilia
• Hemophilia causes the blot to clot slowly or not at
all.
• Hemophilia is caused by a recessive allele in the X-
chromosome.
• It is sex linked, so it occurs more often in males than
females.
• There are treatments.
 Down Syndrome

•Down Syndrome
is due to an extra
copy of
chromosome 21.
Detecting Genetic Disorders
• Amniocentesis is when, before a baby is
born, a small amount amniotic fluid
surrounding the baby is examined for genetic
disorders.
– The chromosomes of a cell are arranged in pairs in a picture called a
karyotype.
• A genetic counselor helps couples understand their chances of having a
child with a particular genetic disorder.
Advances in Genetics
 Advances in Genetics
• The three types of methods that people have
used to develop organisms with desirable
traits are:
– Selective Breeding
– Cloning
– Genetic Engineering
 Selective Breeding
• The process of selecting a few organisms with
desirable traits to serve as parents of the next
generation is called selective breeding.
– Inbreeding is a selective breeding method in which two
individuals with identical or similar sets of alleles are
crossed.
– Hybridization is a selective breeding method in which two
genetically different individuals are crossed.
 Cloning
• A clone is an organism that is genetically
identical to the organism from which it was
produced.
• Cloning can be done on possibly every
organism.
 Genetic Engineering
• In genetic engineering,
genes from one organism
are transferred into the
DNA of another organism.
 Genetic Engineering in Bacteria
• Human DNA is spliced into the plasmid,
which is a small ring of DNA in bacteria.
1st

• The bacterial cell takes up the plasmid. It

now contains the human gene.
2nd

• The bacterial cell produces the protein that

the human gene codes for.
3rd

• Gene therapy involves inserting working

copies of a gene directly into the cells of a
person with a genetic disorder.
 DNA Fingerprinting
• DNA samples are similar to fingerprints because just
like how 2 people don’t have the same DNA, they
can’t have the same fingerprint either.

• DNA fingerprinting is being used to help determine

whether material found at a crime scene came from
a particular suspect.
The Human Genome Project

• All of the DNA in one cell of an organism is a

genome.

• The goal of the Human Genome Project is to

identify the DNA sequence of every gene in
the Human Genome.
 Vocabulary
• Allele- The different forms of a gene.
• Chromosome- A cellular structure made of chromatin which contains DNA.
• Dominant- An allele whose trait always shows up when it is present.
• Recessive- An allele whose trait shows up ONLY when the dominant is not
present.
• Gene- A segment of DNA on a chromosome that codes for a specific trait.
• Genotype- An organism’s genetic makeup, or allele combinations.
• Phenotype- An organisms physical appearance, or visible traits.
• Hybrid- An organism that is heterozygous for a specific trait.
• Purebred- An organism that always produces offspring with the same form of
a trait as a parent.
 Vocabulary
• Meiosis- The process that occurs in sex cells by which the number of
chromosomes is reduced by half.
• Mitosis- The stage of the cell cycle during which the cell’s nucleus divides into
two new nuclei and one copy of the DNA is distributed into each daughter cell.
• Sexual Reproduction- The reproductive process that involves two
parents who combine their genetic material to produce a new organism, which
differs from both parents.
• Asexual Reproduction- The reproductive process that involves only one
parent and produces offspring genetically identical to the parent.
• Heterozygous- Having two different alleles for a trait.
• Homozygous- Having two identical alleles for a trait.
• Probability- The likelihood that a particular event will occur.
 Vocabulary
• Punnent Square- A chart that shows all possible combination of alleles
that can result form a genetic cross.
• Selective Breeding- The process of selecting a few organisms with desired
traits to serve as parents of the next generation.
• Hybridization- A selective breeding method in which two genetically
different individuals are crossed.
• Inbreeding- A selective breeding method in which two genetically similar
individuals are crossed.
• Trait- A characteristic that a organism that can pass onto its offspring through
its genes.
• DNA- (Deoxyribonucleic Acids) The genetic material that carries information
about an organism and is passed from parent to offspring.
 Review Questions
What was Gregor Mendel’s principal
of genetics?

The principals of
probability can be used
to predict the results of
the genetic crosses.
Review Questions
What is a Punnett Square?

A chart that shows all

possible combination of
alleles that can result form
a genetic cross.
What is a genotype? Phenotype?

A genotype is the genetic makeup,

or allele combinations.

A phenotype is the physical appearance,

or its visible traits.
What does it mean to be homozygous?
Heterozygous?

Being homozygous means to have two

identical alleles for a trait.

Being heterozygous means to have two

different alleles for a trait.
What is the male sex cell? Female?

The male sex cell is the

sperm.

The female sex cell

is the egg.
• What is the main difference
between meiosis and mitosis?
The main difference between
meiosis and mitosis is that
meiosis is the reproduction
process involving a sperm and
an egg, while mitosis is the
reproduction process of any
other cell.
 What is a gene? Chromosome?

A gene is a segment of DNA on a

chromosome that codes for a specific
trait.

A cellular structure made of

chromatin which contains DNA.
 Solve this Punnett Square.
Fill the Punnett Square with a pen.
B b

B BB Bb

b Bb bb
• What is the probability of the
person having black hair? Blonde?

B b
Black hair: 75%

Blonde hair: 25%

B BB Bb

b Bb bb
What does it mean to be purebred?

Being purebred means that you will

always pass on the same traits as
you have and have been bred from
organisms with very similar traits.
What does it mean to be a hybrid?

Being hybrid means that you are

heterozygous for a specific trait. It is
basically the opposite of purebred
which is homozygous for a trait.
How many chromosomes does a
human have?

A human has 46
chromosomes.