Unit A Chapter 2 Notes (Digitized)
Unit A Chapter 2 Notes (Digitized)
1 - WHAT IS GENETICS
CHROMOSOMES
1
GENES
A _______________ on a strand of DNA that carries genetic instructions for a single __________.
HUMAN KARYOTYPE
An ___________ where the chromosomes are organized into ___________ and in order (depending on
size and shape)
from largest to smallest
for similar sized chromosomes, _______ is added to reveal the pattern of "dark bands"
the position of the _________________ also helps.
2
The 23rd pair is especially difficult to match in males because the
chromosome inherited from the ___________ is missing a "chunk"
the sex is revealed with the 23rd pair
we call the 23rd pair the _______ chromosomes
o the other 22 pairs are ___________________
AMNIOCENTESIS
3
Meiosis: produces ______________________ cells (a.k.a. sex cells or gametes)
FERTILIZATION
Fertilization occurs when a sperm __________ with an egg, the resulting cell will have all the DNA
from each _____________ (23 chromosomes + 23 chromosomes = 46 chromosomes) and is called a
____________
The zygote will undergo ___________, duplicating itself over and over again becoming an ____________
The advantage of sexual reproduction (using meiosis + fertilization) is it creates diversity
variations within a species
increases ____________________ of the species from diseases
4
HOW DOES THE DIVERSITY HAPPEN?
SELECTIVE BREEDING
Long before knowledge of genes and chromosomes, people knew offspring were similar to parents.
Ancient people would choose only to plant the seeds of the best plants.
After generations and generations of _________________________________, the offspring were
almost unrecognizable
o the new generations had a lot more desirable traits and were generally more
productive
o wheat that produces 16 grains instead of 10
o kernel size or animal size
o larger fruit
o ex. Indigenous in North America selectively breeding maize (popping corn)
from ____________________.
5
GREGOR MENDEL
Before Charles Darwin (who developed the Theory of Evolution) there was an Austrian monk whose
research with pea plants was well ahead of its time.
In the 1860s, Gregor Mendel became interested in breeding pea plants where he made the first
discoveries about genetics.
Later he became known as the "_______________________________"
His initial discovery was that pea plants didn't ___________ their traits.
ex. a purple flower pea plant crossed (sexual
reproduced) with a white flower plant wasn't
light purple, it was fully purple
o Gregor discovered genes could be
____________ for a generation
He did similar experiments with other pea plant traits:
seed colour
seed shape
pod colour
pod shape
stem length
6
REVIEW
1. Match the following terms with the analogy that best describes each term.
o DNA
o Chromosome
o Gene
o Karyotype
o Protein
a. a cookbook with several recipes in it
b. an entire library of cookbooks neatly arranged in order from the largest book to the
smallest book
c. the cake produced by following recipe instructions
d. the letters and words in a recipe
e. the instructions for making a cake
3. Describe what would happen if the process of meiosis did not occur and two cells with two
sets of chromosomes combined to produce a new child. Why is meiosis necessary?
7
2. 2 - INHERITANCE
ALLELES
DOMINANT VS RECESSIVE
Mendel's pea plant experiment is a good indicator that in every gene 1 allele is _____________ than
the other
ex. purple pea plant flower > white perse plant flower.
we call the more powerful allele a ________________ trait, and the weaker allele a
________________ trait.
only ___ dominant allele needs to be in your DNA for you to express the dominant trait.
o ex. in pea plants, if purple flowers is the allele 𝑃, and white flowers 𝑝. A pea plant
with the allele pair _____ or _____ will have purple flowers.
o only _____ would produce white flowers.
the pair of alleles you possess, is known as _____________ whereas the characteristic you
display is known as _____________.
o ex. the ____________ 𝑃𝑝 in pea plants will produce a ____________ of purple flowers.
PUNNETT SQUARES
Punnett Squares are a useful tool in inheritance to determine ________________ of genotypes and
phenotypes in offspring
How to Use a Punnet Square:
ex. the ability to roll your tongue is caused by a dominant allele. Suppose 2 parents each
have rolling tongues but are also ____________ of the recessive allele. Determine the
probability of genotypes and phenotypes of their offering.
1. Choose a letter to assign to the trait
o usually, the letter corresponds with the dominant allele.
o ex. 𝑅 for rolling tongue
o the recessive allele is always the lowercase of the dominant.
o ex. 𝑟 for non-rolling tongue
8
2. Determine the parent's genotypes
o since both parents have the dominant trait, they each have at least 1 𝑅.
o since both parents carry the recessive trail, they each have at least 1 𝑟.
o as a result, both parents have the genotype 𝑅𝑟
3. Draw the punnet square
o place one parent's genotype above and the other to the left
4.
5.
o 𝑅𝑅 has a 25% chance
o 𝑅𝑟 has a 50% chance
o 𝑟𝑟 has a 25% chance
o Rolling tongue has a 75% chance
o Non-rolling tongue has a 25% chance
Q: One parent possesses the dominant allele 𝑅 for tongue rolling and the recessive allele 𝑟. The
other parent cannot roll their tongue. What percentage of their offspring will be able to roll their
tongue?
The only thing your genes actually control are which _____________ to produce
Your proteins are what is unique about you
o ex. blue eye pigment is a different protein than brown eye pigment
Your DNA contains over 25,000 genes which means there are 25,000 "recipes" for proteins
9
Some types of proteins you produce are:
Q: It is known that curly hair is dominant to straight hair. A homozygous dominant man has a child
with a strait haired woman. Use a Punnet Square to determine the probability their child will have
curly hair.
10
OTHER MECHANISMS OF INHERITANCE
11
Q: Draw a sex-linked Punnet Square for the cross between a man with normal vision and a woman
with colour-blindness.
REVIEW
1. A genotype for the fur-colour trait in mice is abbreviated as 𝑀𝑚.
a. State the dominant allele in the genotype.
d. If black fur is dominant over white fur in mice, state the phenotype of the mouse
with the genotype 𝑀𝑚.
12
2. In garden peas, the yellow-seed colour is an autosomal dominant trait over the green-seed
colour.
a. Choose letters to represent the dominant and recessive alleles for this trait. Write
the genotypes for a pea plant that is homozygous for yellow, homozygous for green,
and heterozygous for yellow.
b. Draw a Punnett square for a cross between a homozygous yellow-seeded pea plant
and a homozygous green-seeded pea plant. State the predicted genotypes and
phenotypes of the offspring.
c. Draw a Punnett square for a cross between two of the offspring produced in part b.
3. The gene for eye colour in fruit flies is located on the 𝑋 chromosome. The allele for the
dominant red-eye colour could be represented by the allele 𝑋 , while the allele for the
recessive white-eye colour could be represented by the allele 𝑋 .
a. Draw a sex-linked Punnett square for a male with red eyes who breeds with a
female with white eyes.
b. Determine the percentage probability that the male offspring will have white eyes.
c. Determine the percentage probability that the daughters will have white eyes.
d. Determine the percentage probability that the female offspring are carriers of the
recessive white-eyed allele.
13
A.2.3 - DNA
DNA (deoxyribonucleic acid) contains all of our genetic instructions. Every cell has a _______________
of DNA
DNA is kind of like sheet music:
there’s only a few symbols used ♩ ♫ ♬
o in DNA the "symbols" arc: 𝐺, 𝐶, 𝑇, 𝐴
sheet music only makes sense to
someone who can read it
o in cells, ________________ can
read DNA
o ribosomes read DNA and build
proteins in a process called
____________
________________
o DNA itself doesn't make
proteins
PROTEIN SYNTHESIS
Occurs in 2 steps:
1. Transcription: A copy is
made of DNA in the
_____________ and
brought out of the
nucleus to the
ribosomes
o this copy is
called ________
2. Translation: Ribosomes
"read" mRNA ___
"letters" at a time.
o each 3-letter
"code" tells the
ribosome which __________________ comes next in the protein chain
o proteins are made of amino acid chains
o ribosome adds amino acids onto chain until it reads the 3-letter code for "________"
o TAA, TAG or TGA
o The ribosome knew where on the mRNA to start because of the start message: ____
o these 3-letter codes are known as __________ or DNA triplets
14
o the _________ that amino acids are chained together will create different proteins
and protein shapes.
o even though there are _____ codon combinations there are only _____ amino acid
types
o This creates ___________________
TCT, TCC, TCA, and TCG all say "Serine"
PROTEINS
b) Methionine-Glutamate-Aspartate
c) Glutamate-Methionine-Cysteine
15
THE STRUCTURE OF DNA
They fit together due to their ________ but stick together because of _________________ bonds
The overall shape is a double-helix which resembles a twisted ladder.
The DNA gets read in one direction
o The ends of a gene segment will either have a phosphate bonded to the 3rd or 5th
carbon in the sugar _____________________
16
Q: What is the complementary DNA strand to 5’ACTGTTA3’? Is it Palindromic?
CONDENSING DNA
Without ____________________, each DNA strand would be 2 m long and have to fit in
a cell the size of a dot on your paper.
DNA organizes itself by wrapping around ______________ proteins
17
REVIEW
1. Indicate whether each of the following statements is true or false. If a statement is false,
explain why.
a. ____ A DNA triplet code is made up of three amino acids.
b. ____ A DNA triplet code may code for the same amino acid as another DNA triplet
code.
c. ____ Adenine bases can only bond to cytosine bases.
d. ____ A double helix is similar in shape to a spiral staircase.
e. ____ Genes provide the instructions to make proteins.
f. ____ There are ten different amino acids.
g. ____ Histone is one of the four base pairs found along the DNA molecule.
h. ____ Alternating phosphate and deoxyribose sugar make up the backbone of a DNA
strand with the base pairs attached in the middle.
i. ____ During replication, the DNA breaks into small pieces and re-forms as two
smaller halves.
j. ____ A DNA molecule has three strands of nucleotides braided together.
2. Use the “DNA Triplet Codes and Their Corresponding Amino Acids” table to determine
which of the following DNA sequences would code for the production of valine-alanine-
asparagine.
I. AAAAGAATA
II. CATCGCACA
III. GTGGCTAAT
3. Complete the following table that compares protein synthesis to making a cake from a
recipe.
18
A.2.4 - MUTATIONS AND GENETIC DISEASES
MUTATIONS
b) Write out the amino acid sequence of each to determine the severity of the mutation
19
PASSING ON MUTATIONS
If a mutation is capable of being passed down (ex. germline) then we call it a ______________
______________
Some genetic diseases are ______________ and some ______________
because of this, getting a non-mutated gene from one parent may compensate for inheriting
a mutated gene from the other parent (if recessive)
An individual who has a mutated gene but doesn't display the disease is known as a
_____________ for the disease
Q: Cystic fibrosis is a recessive gene. What is the probability of a child having CF if both parents are
carriers?
20
PEDIGREE CHARTS
A tool in genetics to identify the alleles you have. It's like a genetic family tree.
21
PATTERNS IN PEDIGREES
Recessive:
Dominant:
22
carcinogens are mutagens that specifically affect a cell’s ability to _______________ itself
o causes cells to lose control and divide rapidly → these out-of-control cells are
cancer.
23
REVIEW
1. Sickle cell anemia is an autosomal recessive
genetic disease. The impaired gene causes red
blood cells to be produced that are shrunken
sickle shapes rather than the normal round disc
shapes. These deformed red blood cells can block
narrow blood vessels. People with two recessive
sickle cell alleles become very ill and often die
while they are very young. Most people who suffer
from sickle cell anemia or carry the recessive gene tend to be from areas affected by
malaria, which is a deadly disease carried by mosquitoes. The malaria parasite reproduces
inside a person’s red blood cells. People who are carriers of one of the mutated sickle cell
anemia alleles actually have an advantage over non-carriers—they are resistant to malaria.
This accounts for the fact that this allele is more common in people from areas affected by
malaria.
a. Use a Punnett square to show the probable results of the cross between two people
who are heterozygous for the sickle cell trait (𝑆𝑠 × 𝑆𝑠) and are malaria resistant.
d. State the probability of a child of this couple developing sickle cell anemia.
24
e. Explain why the sickle cell anemia allele is more common in areas infected with
malaria.
2. Queen Victoria of England was a carrier of the sex-linked genetic disease called hemophilia.
Victoria had many children, but only one of them developed hemophilia. Several of her
children married into other European royal families and passed on Victoria’s hemophilia
allele. The most famous case of hemophilia was Victoria’s great-grandson Alexei, the heir to
the Russian throne. The controversial historical figure Rasputin gained influence with the
Russian royal family by claiming to be able to heal Alexis’ hemophilia. Study the pedigree of
Queen Victoria’s descendants.
b. Explain why the individuals with hemophilia in this pedigree are all males.
c. Why are question marks written on some of Queen Victoria’s female descendants?
25
A.2.5 - GENETIC TECHNOLOGIES
Scientists noticed how easily bacteria can gain new abilities by exchanging _______________.
Scientists used this to develop __________________
Transgenics: involves __________________ a
human gene into a bacteria or animal using
plasmids
ex. the insulin producing gene in
humans has been put in a plasmid and
placed into bacteria.
o These bacteria now produce
insulin
a type of selective breeding that
doesn’t need to be _______________
______________ and involves scientists
altering specific DNA
the resulting organism is known as a
________________ _________________
_________________ or GMO
o transgenics or gene therapy
26
o Kids with this disorder (SCID - severe combined immunodeficiency) are kept in
plastic bubbles to avoid getting sick.
o Often, they could be treated with a ______________________ transplant, but Salsabil
had no matching donor's
o Instead, doctors extracted some of Salsabil's bone marrow, exposed it to a virus
containing the correct gene. They gave Salsabil a treatment of chemotherapy which
wiped out remaining bone marrow cells, then they reintroduced her new bone
marrow cells.
o The same process is often used to cure Cystic Fibrosis (CF)
DNA FINGERPRINTING
REVIEW
1. Explain why a person who receives gene therapy will not pass on to her offspring the
repaired gene that has been inserted into her cells by a virus.
27
2. A sample of biological material was left at a crime scene. The DNA from this sample was
isolated and a DNA fingerprint was created. The three crime suspects all volunteered to let
their DNA be taken, and a DNA
fingerprint was created for each person.
Compare the unique banding pattern
produced for each suspect to identify
the suspect who was at the crime scene.
This information can be seen in “DNA
Fingerprint Patterns.”
3. Match the following terms with the example that best describes each term.
• transgenics
• recombinant DNA
• genetic modification
• gene therapy
• DNA fingerprinting
a. A farmer uses a plastic bag to collect pollen from his fastest-growing corn plants
and then sprinkles some pollen on the corn silk of his most disease-resistant corn
plants. He collects the seeds produced from this cross-pollination and grows his
next crop from these seeds.
b. Enzymes are used to cut up DNA left at a crime scene, and then the DNA is run
through a gel. The distinctive pattern of bands produced is used to compare with
the patterns of suspects in the crime.
c. A modified virus is used to deliver a non-defective version of the gene that causes
cystic fibrosis in body cells.
d. A researcher uses enzymes to cut some human DNA into smaller pieces and then
uses different enzymes to splice the DNA into a bacterial plasmid. The new DNA is a
combination of bacterial DNA and human DNA.
e. A gene from the bacterium Bacillus thuringiensis (Bt) produces a protein with
insecticidal properties. The bacterial gene is isolated and spliced into the DNA of a
cotton plant. When the cotton plant is grown, it produces the bacterial insecticide.
28