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GENETICS - the study of inheritance Mendelian Inheritance

“Genetics is the study of heredity, the process in which a parent passes Each person has 2 copies of every gene—one copy from mom and a
certain genes onto their children.” second copy from dad. These copies may come in different variations,
known as alleles, that express different traits.

For example, 2 alleles in the gene for freckles are inherited from mom and
dad:

– allele from mom = has freckles (F)

– allele from dad = no freckles (f)

– child has the inherited gene pair of alleles, Ff (F allele


from mom and f allele from dad).

Gregor Mendel - farher of genetics

Principle of Independent Assortment – Inheritance of one trait has no


effect on the inheritance of another trait

Traits
• Heredity describes how some traits are passed from parents to
their children. • Genetics – study of how traits are passed from parent to
offspring
• The traits are expressed by genes, which are small sections of
DNA that are coded for specific traits. REPRODUCTION IS IMPORTANT

• Genes are found on chromosomes. • Because it continues the species.

• Humans have two sets of 23 chromosomes—one set from each • For all organisms, hereditary material is passed from parent to
parent. offspring during reproduction.

• This material is found inside cells and is made up of the chemical


deoxyribonucleic acid, called DNA.
• DNA controls how offspring will look and how they will function CELL DIVISION
by controlling what proteins each cell will produce.
• Cell division has two big steps. First, DNA in the nucleus is copied.
ROLE OF DNA
• Then the nucleus divides into two nuclei that are exactly the
• DNA is found in all cells in structures called chromosomes. same. Each nucleus receives a copy of the DNA.

• DNA is like a genetic blueprint that contains all of the instructions MITOSIS
for making an organism what it is.
• Division of the nucleus is called mitosis.
• Your DNA controls the texture of your hair, the shape of your ears,
• After mitosis has taken place, the rest of the cell divides into two
your blood type, and even how you digest the food you had for
cells of about equal size.
lunch.
• Almost all plant and animal cells undergo mitosis. Cell division
• Traits are determined by the genes on the chromosomes. A gene
results in growth and the replacement of aging or injured cells.
is a segment of DNA that determines a trait.

DNA LOOKS LIKE

• DNA is shaped like a twisted ladder.

• The two sides of the ladder form the backbone of the DNA
molecule.

• The sides support the rungs, or steps, of the ladder. The rungs
hold all the genetic information.

• Each rung is made up of a pair of chemicals called bases.

• There are only four bases in DNA, and they form specific pairs. A
DNA ladder has billions of rungs.

• The bases are arranged in thousands of different orders. The


order of the bases along the DNA ladder forms a code. From this
DNA code, the cell gets instructions about what materials to
make, how to make them, and when to make them
MEIOSIS • Meiosis produces our sex cells or gametes (eggs in females and
sperm in males).
Meiosis is a process where a single cell divides twice to produce four cells
containing half the original amount of genetic information. These cells are
our sex cells – sperm in males, eggs in females.

• Before meiosis begins, DNA is copied.

• During meiosis, the nucleus divides twice. Four sex cells form,
each with half the number of chromosomes of the original cell.

• Human eggs and sperm have only 23 chromosomes each—one


chromosome from each pair of chromosomes.

• When a human egg and a sperm join in a process called


fertilization, a new individual forms with a full set of 46
chromosomes.

• A chromatid is one copy of a newly copied chromosome.

• It is still attached to the original chromosome by a single


centromere.

• A chromosome consists of a single, double-stranded DNA


molecule. A chromatid consists of two DNA strands joined
together by their centromere.
• During meiosis one cell divides twice to form four daughter cells.
REPRODUCTION BY ONE ORGANISM
• These four daughter cells only have half the number
of chromosomes of the parent cell – they are haploid. • In asexual reproduction, a new organism is produced from a part
of another organism by cell division.
• All the DNA in the new organism comes from one other organism. SEX CELLS AND REPRODUCTION

• An example is shoots growing from the eyes of potatoes. The DNA • In sexual reproduction, a new organism is produced from the
of the shoot is the same as the DNA in the rest of the potato. DNA of two cells.

ASEXUAL REPRODUCTION • Sex cells are specialized cells that carry DNA and join in sexual
reproduction.
BUDDING
• A female sex cell usually is called an egg, and a male sex cell
• A new individual, or bud, grows in the asexual reproduction
usually is called a sperm.
process known as budding.
• DNA from each sex cell contributes to the formation of a new
• Some plants and a few animals reproduce by budding.
individual and to that individual’s traits.
• The bud has the same shape and characteristics as the parent.
PRODUCTION OF SEX CELLS
• In time, the bud matures and breaks away to live on its own.
• Remember that your body is made up of different types of cells.
REGENERATION When a skin cell or a bone cell divides, it produces two identical
cells by cell division.
• In regeneration, some organisms are able to replace body parts
that have been lost. For example, a sea star can grow a new arm if • Recall that DNA can be found in structures called chromosomes.
one is broken off.
• A human body has 46 chromosomes arranged in 23 pairs. Each
CLONING chromosome of a pair has genetic information about the same
things.
• Making copies of organisms is called cloning.
• For example, if one chromosome has information about hair color,
• The new organism produced is called a clone. The clone receives its mate also will have information about hair color.
DNA from just one parent cell, so it has the same DNA as the
parent cell. • Chromosomes come in homologous pairs, thus genes come in
pairs.
• Gardeners clone plants when they take cuttings of a plant’s stem,
leaves, or roots. Homologous pairs – matching genes – one from female parent
and one from male parent
• They can grow many identical plants from one plant.
• Example: Humans have 46 chromosomes or 23 pairs.
One set from dad – 23 in sperm • Male flower parts produce pollen, which contains sperm cells.

One set from mom – 23 in egg • Female flower parts produce eggs. When a sperm and an egg join,
a new cell forms.

• In most flowers, the cell divides many times and becomes


enclosed in a seed.

• A fruit that contains seeds soon develops.

HEREDITY

- The similarities and differences are the result of the way traits
are passed from one generation to the next.

-The passing of traits from parents to offspring

• Traits are inherited from a person’s parents. Every organism,


including you, is made up of many traits.

• The study of how traits are passed from parents to offspring is


called genetics.

• Traits are inherited from a person’s parents. Every organism,


SEX CELLS IN PLANT including you, is made up of many traits.

• Plants can reproduce sexually. How this occurs is different for • The study of how traits are passed from parents to offspring is
each plant group. called genetics.

• But in all cases, a sperm and an egg join to create a new cell. DETERMINES TRAUTS

• The new cell eventually will become a plant. • In body cells, such as skin cells or muscle cells, chromosomes are
in pairs.
• Flowers may seem to be just a decoration for many plants.
• One pair of chromosomes can contain genes that control many
• But flowers have the structures for reproduction. different traits.
• Each gene on one chromosome of the pair has a similar gene on • To show a dominant allele, a person can have either one or two
the other chromosome of the pair. alleles for the trait.

• Each gene of a gene pair is called an allele. DOMINANT AND RECESSIVE GENES

• The genes that make up a gene pair might or might not contain • Gene that prevents the other gene from “showing” – dominant
the same information about a trait.
• Gene that does NOT “show” even though it is present – recessive
• For example, the genes for the flower color trait in pea plants
• Symbol – Dominant gene – upper case letter – T
might be purple or white.
Recessive gene – lower case letter – t
• If a pair of chromosomes contains different alleles for a trait, that
trait is called a hybrid.

• When a trait has two alleles that are the same, it’s called pure.

ALLELES DOMINANT OR RECESSIVE

• Dominant means that one allele covers over or hides another


allele of the trait.

• For example, if a pea plant has one purple-flower allele and one
white-flower allele, its flowers will be purple. This is because • Both genes of a pair are the same –
purple is the dominant flower color in pea plants. homozygous or purebred
• The dominant allele is seen when the trait is hybrid or dominant TT – homozygous dominant
pure. White flowers, the hidden allele, are recessive.
tt – homozygous recessive
• Recessive alleles are seen only when a trait is recessive pure.
• One dominant and one recessive gene – heterozygous or hybrid
• Humans also have traits that are controlled by dominant and
recessive alleles. Tt – heterozygous

• To show a recessive allele, a person needs to inherit two copies of GENOTYPE AND PHENOTYPE
the recessive allele for that trait—one from each parent. Genotype and Phenotype
• Combination of genes an organism has (actual gene makeup) – MUTATIONS
genotype
• The word mutate means “to change.” In genetics, a mutation is a
Ex: TT, Tt, tt change in a gene or chromosome.

• Physical appearance resulting from gene make-up – phenotype • A four-leaf clover is the result of a mutation.

Ex: hitchhiker’s thumb or straight thumb • Mutations can happen because of an error during meiosis or
mitosis.
DIFFERENCES IN ORGANISMS
• Mutations can also occur because of something in the
• Variations are the different ways that a certain trait appears, and
environment. Many mutations happen by chance.
they result from permanent changes in an organism’s genes.
EFFECTS OF MUTATION
• Some gene changes produce small variations, and others produce
large variations. • Mutations can be helpful, harmful, or have no affect on an
organism.
WHAT HAPPENS WHEN TRAITS HAVE MULTIPLE ALLELES AND
MULTIPLE GENES? • A mutation that affects the way cells grow, repair, and maintain
themselves is usually harmful.
• Flower color in pea plants shows a simple pattern of inheritance.
• A mutation, such as a four-leaf clover, has no effect.
• Flower color is determined by one allele from each parent.
Sometimes the pattern of inheritance of a trait is not so simple. • All mutations add variations to the genes of a species.

• Many traits in organisms are controlled by more than two alleles. SELECTIVE BREEDING

• For example, in humans, multiple alleles A, B, and O control blood • Nearly all breeding of animals is based on their observable traits.
types A, B, AB, or O.
• Breeding is controlled, instead of random, to produce desired
• Traits also can be controlled by more than one gene pair. traits.

• For humans, hair color, eye color, and skin color are traits that are • For example, dairy cattle are bred selectively for the amount of
controlled by several gene pairs. milk that they can produce. Racehorses are bred according to how
fast they run.
• This type of inheritance is the reason for the differences, or
variations, in a species.
• Selective breeding helps produce more offspring with the desired 1 pair is the sex chromosomes – determines sex (male or female)
traits.
• Females – sex chromosomes are homologous (look alike) – label
Punnett Square and Probability XX

• Used to predict the possible gene makeup of offspring – Punnett Males – sex chromosomes are different – label XY
Square
Incomplete dominance and Codominance
• Example: Black fur (B) is dominant to white fur (b) in mice
• When one allele is NOT completely dominant over another (they
blend) – incomplete dominance

Example: In carnations the color red (R) is incompletely dominant


over white (W). The hybrid color is

pink. Give the genotypic and phenotypic ratio from a cross


between 2 pink flowers.

RW X RW

• When both alleles are expressed – Codominance

Example: In certain chickens black feathers are codominant with


white feathers.

Heterozygous chickens have black and white speckled feathers.

Sex – linked Traits

Sex Determination • Genes for these traits are located only on the X chromosome
(NOT on the Y chromosome)
• People – 46 chromosomes or 23 pairs
• X linked alleles always show up in males whether dominant or
• 22 pairs are homologous (look alike) – called autosomes – recessive because males have only one X chromosome
determine body traits
• Examples of recessive sex-linked disorders: 1. Dominant – A and B (codominance)

1. colorblindness – inability to distinguish between certain Recessive – O


colors
2. Blood type – A = AA or AO
2. hemophilia – blood won’t clot
B = BB or BO
Pedigrees
AB = AB
• Graphic representation of how a trait is passed from parents to
offspring O = OO
• Tips for making a pedigree Mutations
1. Circles are for females • Mutation – sudden genetic change (change in base pair sequence
of DNA)
2. Squares are for males
• Can be :
3. Horizontal lines connecting a male and a female represent a
marriage Harmful mutations – organism less able to survive: genetic
disorders, cancer, death
4. Vertical line and brackets connect parent to offspring
Beneficial mutations – allows organism to better survive: provides
5. A shaded circle or square indicates a person has the trait
genetic variation
6. A circle or square NOT shaded represents an individual who does
Neutral mutations – neither harmful nor helpful to organism
NOT have the trait
• Mutations can occur in 2 ways: chromosomal mutation or
7. Partial shade indicates a carrier – someone who is heterozygous
gene/point mutation
for the trait
Chromosomal mutation:
Multiple Alleles
• less common than a gene mutation
• 3 or more alleles of the same gene that code for a single trait
• more drastic – affects entire chromosome, so affects many genes
• In humans, blood type is determined by 3 alleles – A, B, and O
rather than just one
BUT each human can only inherit 2 alleles
• caused by failure of the homologous chromosomes to separate Cystic fibrosis – mucous builds up in the lungs
normally during meiosis
Tay-Sachs Disease – deterioration of the nervous system – early
• chromosome pairs no longer look the same – too few or too death
many genes, different shape
Mutated genes produce enzymes that are less effective than normal
• Examples: at breaking down fatty cell products known as gangliosides. As a
result, gangliosides build up in the lysosomes and overload cells. Their
Down’s syndrome – (Trisomy 21) 47 chromosomes, extra chromosome at
buildup ultimately causes damage to nerve cells.
pair #21
Phenylketonuria (PKU) – an amino acid common in milk cannot be
Turner’s syndrome – only 45 chromosomes, missing a sex chromosome
broken down and as it builds up it causes mental retardation –
(X)
newborns are tested for this
Girls affected – short, slow growth, heart problems
Dominant gene mutations:
Klinefelter’s syndrome – 47 chromosomes, extra X chromosomes (XXY)
Huntington’s disease – gradual deterioration of brain tissue, shows
Boys affected – low testosterone levels, underdeveloped muscles, sparse up in middle age and is fatal
facial hair
Dwarfism – variety of skeletal abnormalities
• Having an extra set of chromosomes is fatal in animals, but in
Detecting Genetic Disorders
plants it makes them larger and hardier
• picture of an individual’s chromosomes – karyotype
Gene or Point Mutation
• amniotic fluid surrounding the embryo is removed for analysis –
• most common and least drastic
amniocentesis
• only one gene is altered

Examples:
TWO TYPES OF STREPTOCOCCUS PNEUMONIAE BACTERIA
Recessive gene mutations:
1. Virulent Strain (S strain)
Sickle cell anemia – red blood cells are sickle shaped instead of round
and cannot carry enough oxygen to the body tissues – heterozygous  The S strain had an capsule of causing lethal infections in mice.
condition protects people from malaria  S strain refers to which an organism can cause disease.
 It has an ability to survive the host immune response and it has 2. He conducted an experiment and he was trying to make a vaccine
also an ability to infect a new host. that would protect against certain illness.
2. Non-Virulent Strain (R strain)
-Frederick Griffith
 The R strain lacked the capsule. 3. What illness does Frederick Griffith was trying to make a vaccine.?
 R strain are the ones that are incapable of causing any disease.
 They do not harm their hosts, instead can be beneficial to some. -Influenza

Avery's team proved in 1944 that DNA contains genetic material. 4-5. Give the two type of Streptococcus Pneumoniae Bacteria.

 In 1952, Alfred Hershey and Martha Chase took an effort to find -Virulent Strain (S strain) and Non-Virulent/Avirulent (R strain)
the genetic material in organisms. Their experiments led to an 6-7. Who are the two researches who helped Avery to discover the
unequivocal proof to DNA as genetic material DNA?
 Ribonucleic Acid (RNA) is a polymeric molecule that is essential -Maclyn MacCarty and Colin MacLeod
for most biological functions, either by performing the function
itself or by performing a template for production of proteins. 8. Who is the American Bacteriologist that conducted a research to
Nucleotide bases of RNA are Cytosine, Guanine, Adenine, and help ascertain that DNA is the substance responsible for heredity.
Uracil. -Oswald Avery
 All true organisms and some viruses contain DNA as their genetic 9. What is the name of bacteria that causes Pneumonaie to human?
material. But some viruses, including several phages, plant (TMA,
AMV, etc.) and viruses HIV- the AIDS vrus, hepatitis C virus, SARS, -Streptococcus Pneumoniae Bacteria
measles, mumps and etc. have RNA as their genetic material.
10. In what year does Avery and his Colleagues proved that DNA
These viruses that contain RNA as their genetic material are called
contains Genetic Material?
retroviruses.
-1944
1. He conducted a groundbreaking experiment on plea plants in the
mid-19th century. 11. What was the key element for Hershey and Chase Experiment?

-Gregor Mendel -Bacteriophage


12-14. Three steps performed in Hershey & Chase Experiment. 3.)British biophysicist who was responsible for showing the first
crystalline symmetrical patterns of DNA.
-Infection, Blending, Centrifuge/Centrifugation
- Maurice H.F. Wilkins
15. (True or False) When they prepared virus with sulfur-labeled
protein and mixed it with bacteria, they found that most of 4 .)The two scientist who got the Nobel prize in Physiology and
radioactivity remained with the virus and did not enter the bacteria. Medicine in 1962 for their discoveries concerning the molecular
structure of nucleic acids and its significance for information transfer
-True
in living material.
16. Viruses that contain RNA as their genetic material.
-James Watson and Francis Crick
-
5 . Name the technology that Rosalind Franklin used to photograph
17-18. They separate the particle of TMV. the DNA.

-Gierer and G. Schramm X-Ray Diffraction

19-20. Particles of TMV. 6.)Three base code for the production of amino acid, sequence of
three nucleotides.
-DNA and RNA
-codon

7.) Is the process through which information encoded in mRNA directs


DNA REPLICATION, TRANSCRIPTION, AND TRANSLATION the addition of amino acids during protein synthesis.
1.) British scientist best known for her contributions to the discovery -translation
of the molecular structure of DNA, a constituent of chromosomes
that serves to encode genetic information. 8.) Made of large and small sub units and act as a site for protein
- Rosalin Franklin synthesis.
2.) A Swiss scientist who discover the snotty gray stuff substance that
-ribosomes
he called nuclein.
-Friedrich Miescher 9. The ribosome assembles around the target mRNA.

-initiation
10.)The ribosomes release the polypeptide when it reads a stop signal
on the mRNA

11-13.) What are the stages of the DNA transcription process.

- initiation, elongation & termination.

14.) In what year the Noble Prize Committee awarded James Watson,
Francis Crick, and Maurice H. F. Wilkins

- 1962

15.) How many enzymes are present in the DNA Replication process?

4 main enzymes

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