Compendium Review

Major Topic Two: Genetics

Table of Contents
Part 3
• Genotype and Phenotype
• Trait Inheritance
• Beyond Inheritance Patterns
• Sex-linked Inheritance
Part 4
• Structure and function of DNA and RNA
• Gene Expression
• Genomics
• DNA Technology
Part 3
• Genotype and Phenotype
• Trait Inheritance
• Beyond Inheritance Patterns
• Sex-linked Inheritance
 Picture from Human

Genotype and Phenotype

Biology by Sylvia S.
Mader Page 422

Each individual has a GENOTYPE, or their own specific genes. They inherited these
genes from their parents. Each parent contributes an ALLELE, specifying an offspring's
anatomical and physiological characteristics. Alleles designate specific traits and are
therefore denoted as follows: DOMINANT ALLELES (specific capital letter) and
RECESSIVE ALLELES (same specific lower case letter). An alleles position on a
chromosome is known as its LOCUS, or its designated space.

HOMOZYGOUS DOMINANT:
Two dominant alleles
HOMOZYGOUS RECESSIVE:
Two recessive alleles
HETEROZYGOUS: One
dominant and one recessive
allele Picture shows
different earlobe
attaching outcomes
for HD, HR, and
heterozygous

The physical appearance that

results from the allele combination
is called PHENOTYPE
• Genotype and Phenotype
• Trait Inheritance
• Beyond Inheritance Patterns
• Sex-linked Inheritance
 Trait Inheritance: One-trait crosses
There are many different combinations of alleles a child could inherit. If a genotype is
EeSs, then the possible gametes would be ES, eS, Es, es.

Many Parents would like to know what possible physical traits their offspring may have,
and this can done by calculating the cross of the parents genotypes. For example, if we
looked at a Father with freckles (Ff) and a Mother with no freckles (Ff), are results would
be the following:
F Egg f
The dominant phenotype in offspring is
75% to 25% recessive phenotype.
phenotype A F FF Ff
heterozygous offspring is
MONOHYBRID if they display the Sperm
dominant trait. f
Ff ff
Offspring

A PUNNETT SQUARE helps

determine the different
gamete combinations.
 Trait Inheritance: Two-trait crosses
Using the same idea behind the Punnett Square, one can determine the
offspring’s genotype/phenotype when looking at two traits. Looking at the below
example, we can see the different gamete combinations for a widows peak
hairline (WW) and a straight hairline (ww), as well as short fingers (SS) and
long fingers (ss).

This picture illustrates

all possible gamete
combinations
If a person is
heterozygous in two
traits (hairline and
fingers) they are
known to be
DIHYBRID.

Picture from Human

Biology by Sylvia S.
Mader Page 426
Trait Inheritance: Genetic Disorders
Autosomal Recessive Disorder
Autosomal Recessive Disorders
If a disorder is recessive and the
TAY-SACHS is a disease where lysosomes unaffected/asymptomatic parents are
accumulate primarily in brain cells due to an heterozygous, their offspring can be
enzyme deficiency, resulting in the weakening affected/symptomatic with the disorder.
of psychomotor performances.
CYSTIC FIBROSIS is a disease where chloride
ions cannot successfully cross the plasma
membrane. As a result, other compounds do
not navigate across the membrane causing
thick mucus to accumulate in the bronchial
passage and the pancreatic ducts.
PHENYLKETONURIA is a disease were one
has a deficiency in an enzyme that brakes down
the phenylalanine amino acid. This disease can
affect the development of ones nervous system.
SICKLE-CELL is a disease that affects the
shape of ones red blood cells due to the This illustration shows the
absence of an amino acid. The results are poor probability for affected offspring
blood circulation due to clogged vessels.
Picture from http://en.wikipedia.org/wiki/Autosomal_dominant
 Trait Inheritance: Genetic Disorders

Autosomal Dominant Disorder

If a disorder is dominant and both heterozygous parents display
symptoms, they can have a homozygous recessive offspring who
would be asymptomatic.

MARFAN syndrome is caused by a flaw in fibrillin, an

elastic tissue protein. Results are a caved in chest,
long limbs, eye and heart problems.

HUNTINGTON disease is caused by the mutation of a

protein gene known as huntington. The result is injury
to nerve cells and erosion of brain cells
• Genotype and Phenotype
• Trait Inheritance
• Beyond Inheritance Patterns
• Sex-linked Inheritance
 Beyond Inheritance Patterns
Traits that are governed by multiple sets of alleles are known as POLYGENIC
TRAITS. Any polygenic traits which can be influenced by nurture are known as
a MULTIFACTORIAL TRAIT, such as a persons skin color and sun exposure.

INCOMPLETE DOMINANCE is the

result of an offspring inheriting an
intermediate phenotype from two
homozygous parents.
CODOMINANCE is the result of both
alleles in a particular gene being
present in a heterozygous offspring.

More than two alleles to a trait can

cause an offspring’s gene to have
multiple outcomes. This is known as Picture of incomplete dominance: Red
MULTIPLE ALLELE INHERITANC. flower and White flower = Pink flowers

Picture from http://www.emc.maricopa.edu/faculty/farabee/BIOBK/incomdom.gif

• Genotype and Phenotype
• Trait Inheritance
• Beyond Inheritance Patterns
• Sex-linked Inheritance
 Sex-linked Inheritance
SEX-LINKED traits are controlled on sex chromosomes; X-LINKED alleles are
found on x chromosomes, whereas Y-LINKED alleles are found on y
chromosomes. In order for a female (xx) to receive a sex-linked disorder, they
would have to receive two recessive alleles (one from each parent); however a
male (xy) only receives one allele because he only has one X-link.

Picture from
Human Biology
by Sylvia S.
Mader Page
436

Color blindness, muscular dystrophy (muscle deterioration disease), and

hemophilia (disease that affects ability to clot blood) are all X-linked recessive
disorders. The above table shows the chance of having a colorblind child.
Part 4
• Structure and function of DNA & RNA
• Gene Expression
• Genomics
• DNA Technology
 Overview of DNA & RNA Structure and Function
NUCLEOTIDE: Molecular structure consisting of three subunit molecules – a phosphate,
a sugar (sugar deoxyribose or ribose) and a nitrogenous base. DNA/RNA are polymers
DNA: Deoxyribonucleic Acid
• Contains five carbon sugar
deoxyribose
• Bases – Adenine (A), Thymine
(T), Guanine (G), and Cytosine (C)
• Base can have two rings (A and
G) or one ring (T and C)
• Possesses genetic information in
cells
• Copy and distribute genetic
information during
cellular/organism reproduction
• Double stranded/helix/
Base pairing
RNA: Ribonucleic Acid
• Contains five carbon sugar
ribose
• Base (U) replaced base (T)
• Does not form helix/single
stranded
• DNA is rewritten in RNA form
which allows it to be transferred
to other parts of the cell with
amino acid sequence information
• Protein synthesis
Picture from Human Biology by Sylvia S. Mader Page 444
 DNA & RNA Structure and Function

Sugar and Phosphate support

molecules: Contains five carbon
sugar deoxyribose

Complementary Paired Bases:

Adenine (A) and Thymine (T),
Guanine (G) and Cytosine (C)

Picture from Human Biology by Sylvia S. Mader Page 444

 Replication of DNA
Duplicating a DNA helix is known as DNA REPLICATION. As DNA replicates itself, it
uses one of the original strands of the helix as a TEMPLATE in the formation process.
The result is an original strand for each of the new strands. An enzyme helps in breaking
the hydrogen bonds and releasing the bases. New DNA nucleotides fit into their
complementary paired bases. Before the two double-helix molecules are complete their
support ladder is sealed by an enzyme to protect against breakage.

Parental DNA

New Nucleotides Picture from Human Biology by

Sylvia S. Mader Page 445

Replicated DNA, one parental strand in each

 Structure and Function of RNA
RIBOSOMAL RNA: Produced in nucleolus; combines with proteins
to make ribosome subunits. Travels to cytoplasm before protein
synthesis. [rRNA]
MESSENGER RNA: Produced in nucleus; transports genetic
information to ribosomes in cytoplasm. [mRNA]
TRANSFER RNA: Produced in nucleus; delivers amino acids to
ribosomes, forming proteins. [tRNA]

Overview of Protein Structure and

Function
• Proteins are made up of amino acids
• Different amino acid sequences produce
differently structured proteins
• Proteins are responsible for determining
other cells configurations and duties
• Some proteins are enzymes which aid in cell
reaction speeds Pictures from Human Biology by
Sylvia S. Mader Page 34
• Structure and function of DNA & RNA
• Gene Expression
• Genomics
• DNA Technology
 Gene Expression
TRANSCRIPTION: First step in gene expression. A mRNA makes a copy of a sequence of
nucleotides and delivers it to ribosomes. Before the mRNA can enter the cytoplasm it must be
processed from a primary to a mature mRNA. To process the primary mRNA’s, the introns (piece of
DNA that is not part of gene) are removed leaving only the exons (segment piece is expressed).
TRANSLATION: The mRNA’s copied sequence is translated into an amino acid sequence. The
outcome is the GENETIC CODE. The genetic code is a TRIPLET CODE because the four bases
(U,C,A,G) supply various triplets combination. CODONS are three letter mRNA units; there is a
start and a stop codon on each protein sequence. After the code is translated, tRNA deliver the
amino acids to the ribosome. The amino acids bind to one end of the tRNA while a three base
complimentary (mRNA codon) binds to the other end of the tRNA. In the ribosome, the mRNA’s
codon bonds with the tRNA’s anticodon.

Picture shows how primary

mRNA is processed into mature
mRNA by removing the introns.

Pictures from Human Biology by Sylvia S. Mader Page 449

 Gene Expression: Polypeptide Synthesis
Pictures from Human Biology by
Steps for Polypeptide Synthesis Sylvia S. Mader Page 451

INITIATION: mRNA first fuses to

smaller ribosomal subunit and
then to the larger one with the
first tRNA.
ELONGATION: tRNA at P-site,
Polypeptide gets longer, another
2a. Elongation: 2b. Elongation:
tRNA arrives at A-site and takes polypeptide is transferred ribosome moved, tRNA
transferred peptide by moving to tRNA-amino acid at P-site longer
into P-site. Cycle starts again
with one tRNA outgoing and a
new one coming into A-site.
TERMINATION: Synthesis stops
when ribosome reaches stop
codon.
1. Initiation

3. Termination

POLYRIBOSOME: Group of ribosomes on one mRNA thread at a time.

 Regulation of Gene Expression
Most of an organisms cells contain the same genes; however there are different types of
cells in the body, such as muscle cells, which express different genes. Thus, what
makes cells differ from one another is what genes they each transcribe and translate.

NUCLEUS CYTOPLASM

Transcription Control: The Translational Control: Controls

transcription control is a mechanism mRNA’s abilities to bind to
which controls what genes and how ribosomes, their longevity in
much of the genes can be cytoplasm, and further adjustments
transcribed. needed prior to translation.

Posttranscriptional Control: After Posttranslational Control:

DNA is copied (mRNA is made), Modifications to control protein
posttranscriptional controls the function; controls adjustments to
processing and release of mRNA’s. polypeptides after protein
synthesis.
• Structure and function of DNA & RNA
• Gene Expression
• Genomics
• DNA Technology
 Genomics
• The field that studies an organisms genome, or gene expression patterns, is known
as GENOMICS. A thirteen year long project known as the HUMAN GENOME
PROJECT has helped the scientific field advance their understandings of the order of
bases and has given rise to the PERSONAL GENOME PROJECT where in the
future, individuals will be able to have their own genome sequenced.

This picture
demonstrates the
Ex Vivo gene
therapy

Pictures from Human Biology by Sylvia S. Mader Page 456 Did You Know A Persons Genome Can Be
Modified?
Gene therapy is the process of treating disorders by
PROTEOMICS: A field that studies cellular
the injection of genetic material. This can be done
proteins; more specifically their arrangement and
EX VIVO, by modifying cells or tissues outside the
duties.
body and then introducing it into the organism, or IN
BIOINFORMATICS: The use of computer VIVO, where the modification is injected directly into
technology in the study of genomics. an organism.
• Structure and function of DNA & RNA
• Gene Expression
• Genomics
• DNA Technology
 DNA Technology
An exact copy of ones genetic material can be made by CLONING, or copying it. GENE
CLONING can copy genes whereas RECOMBINANT DNA can copy genes from two or
more sources. Genetic material can be introduced into a cell via a VECTOR, or foreign
material. If one needs just a segment of DNA copied, they can achieve this from a
POLYMERASE CHAIN REACTION. DNA copied from PCR can be used in DNA
FINGERPRINTING, or the process of identifying a criminal by their genetic material.

This is a picture of the

first ever cloned
mammal, Dolly. She
was cloned from a
single somatic cell, not
a germline cell

Picture from http://en.wikipedia.org/wiki/Dolly_the_Sheep

 DNA Technology
Today, scientists are adding genes to plants, animals, and bacteria to produce
biotechnology products. BIOTECHNOLOGY PRODUCTS are the results from
TRANSGENETIC ORGANISMS, or organisms that have been modified. Some
biotechnology products are hormones, vaccines, bigger and more abundant
crops and animals. Crops are genetically modified to grow faster, bigger,
brighter, containing more vitamins and minerals, and be resilient against
insects. Animals are being genetically modified to grow bigger, supplying more
food, and produce compatible organs for human transplant. Genetically altered
bacteria help to ensure the longevity of crops that would typically be destroyed
due to dramatic weather changes. Bacteria is being reprogrammed to eat
toxins in our environment at an accelerated rate.
 Works Cited
"Dolly (sheep)." Wikipedia, The Free Encyclopedia. 7 Feb 2008, 01:35 UTC. Wikimedia Foundation, Inc. 7 Feb
2008
<http://en.wikipedia.org/w/index.php?title=Dolly_%28sheep%29&oldid=189638415>.
"Dominance relationship." Wikipedia, The Free Encyclopedia. 1 Feb 2008, 01:19 UTC. Wikimedia Foundation,
Inc. 7 Feb 2008
<http://en.wikipedia.org/w/index.php?title=Dominance_relationship&oldid=188284513>.
Mader, Sylvia S. Human Biology. New York: The McGraw-Hill Companies, Inc, 2008. Pages 421-464.
The Online Biology Book. Estrella Mountain Community College. Sep 2006. Accessed 5 Feb 2008.
<http://www.emc.maricopa.edu/faculty/farabee/BIOBK/BioBookTOC.html>.