Lesson 9 – DNA Structure & Transcription
Nucleic Acids – macromolecules that store information and provide the instructions for building
proteins – polymers made from monomers called nucleotides
- Nucleotide polymer = polynucleotide
- DNA
- RNA
Gene – unit of inheritance encoded in a specific stretch of DNA that programs the amino acid
sequence of a polypeptide
Base pairs
- Adenine with Thymine
- Guanine with Cytosine
Differences between DNA and RNA
- Sugar in RNA is ribose not deoxyribose
- Uracil base instead of thymine
- RNA is single stranded not double helix
DNA polymerase – enzyme that makes the covalent bonds
between the nucleotides of a new DNA strand
Transcription – transfer of genetic information from DNA
to RNA
Lesson 10 – Translation & Mutation
Genetic code – set of rules that
convert a nucleotide sequence in
RNA to an amino acid sequence
- mRNA is produced by transcription
-tRNA converts the RNA codons to amino acids
Translation occurs in ribosomes
Translation is the synthesis of a polypeptide from the mRNA
Nucleotides = monomer of nucleic acids
Nucleic acids = polymer of nucleotides
Mutation – any change to the genetic information of a cell or virus; can involve large regions of
a chromosome or just a single nucleotide pair
Insertion mutation – addition of one or more nucleotides to the DNA sequence
Deletion mutation – removal of one or more nucleotides from the DNA sequence
Substitution mutation - replacement of one or more nucleotides within the DNA sequence
Frameshift mutation – whenever the number of nucleotides inserted or deleted is not a multiple
of three. All the nucleotides after the insertion or deletion will be regrouped into different codons
Silent mutation – no effect at all
Mutagens – physical and chemical agents that cause
mutations
Lesson 11 – Mitosis
Mitosis for growth, tissue repair, cell replacement, and asexual reproduction
Each eukaryotic chromosome contains one very long DNA molecule,
typically bearing thousands of genes. Chromosomes are made up of a
material called chromatin. A chromosome is loose and unwound when the
cell is undergoing its normal functions, but compact and tightly wound
when the cell is dividing.
Cell cycle – ordered sequence of events that extends from the time a cell
is first formed from a dividing parent cell until its own division into two
cells
Most of the cell cycle is spent
in interphase, when a cell goes about its usual business. The chromosomes are duplicated during
the S phase. During the G2 phase, the cell completes preparations for cell division. The part of
the cell cycle when the cell is dividing is called the mitotic phase. It includes two overlapping
states, mitosis and cytokinesis. In mitosis, the chromosomes divide and are evenly distributed
forming two daughter nuclei. During cytokinesis, the cytoplasm is divided in two.
- During the mitotic phase in the cell cycle, both the contents of the nucleus and the
cytoplasm are divided
- The cell products that result from the mitotic cell cycle can be best described as two
identical cells, each with the same amount of genetic material and the same genetic
information
- Cells spend at least 90% of their cell cycle in interphase
- Mitosis produces cells genetically identical to the parent cell, but meiosis does not
- Mitosis results in somatic cells
Somatic cells:
Body cells (e.g., skin, liver, brain)
Diploid (2n) — have two sets of chromosomes
Produced by mitosis
Used for growth, repair, and maintenance
Gametic cells (gametes):
Sex cells (sperm and egg)
Haploid (n) — have one set of chromosomes
Produced by meiosis
Used for sexual reproduction
Lesson 12 – Cancer
Cancer cells do not respond normally to the cell cycle control system; they divide excessively
and may invade other tissues of the body. The abnormal behavior of cancer cells begins when a
single cell undergoes genetic changes (mutations) in one or more genes that encode for proteins
in the cell cycle control system.
Tumor – abnormally growing mass of body cells
Benign tumor - abnormal cells remain at the original site; rarely deadly; often can be removed
Malignant tumor – potential to spread into neighboring tissues and other parts of the body,
forming new tumors – cancer
Metastasis - spread of cancer cells beyond their original site
Cancer treatment
- Surgery
- Radiation therapy
- Chemotherapy
Oncogene – gene that causes cancer
Proto-oncogene – normal, healthy gene with the potential to become an oncogene
A cell can acquire an oncogene from a virus or from the mutation of one of its own proto-
oncogenes. For a proto-oncogene to become an oncogene, a mutation must occur in the cell’s
DNA.
Growth factors genes – code for proteins that stimulate cell division
Tumor-suppressor genes – code for proteins inhibit cell division
The development of a malignant
tumor is accompanied by a gradual
accumulation of mutations that convert proto-oncogenes to oncogenes and knock out tumor-
suppressor genes.
Carcinogens: cancer-causing agents found in the environment. Mutations often result from
decades of exposure to carcinogens.
- tobacco
- UV radiation
- Alcohol
Lesson 13 Meiosis
Somatic cell – body cell
Homologous chromosomes – carry genes controlling the same inherited characteristics; they may
have different versions of the same gene
A pair of homologous chromosomes has two nearly identical chromosomes, each of which
consists of two identical sister chromatids after chromosome duplication
Diploid – pairs of homologous chromosomes
Haploid – one member of each pair of homologous chromosomes
Fertilization – haploid sperm fuses with a haploid egg
The resulting fertilized egg, zygote, is diploid. It has two sets of chromosomes, one set from each
parent
Meiosis – process of cell division that produces haploid gametes in diploid organisms
Origins of genetic variation
Independent Assortment of Chromosomes & Crossing Over
Crossing over – exchange of corresponding segments between
nonsister chromatids of homologous chromosomes, which
occurs during prophase I of meiosis
Nondisjunction –
members of a
chromosome pair fail
to separate at anaphase.
Can occur during
meiosis I or II
Example – Down
Syndrome
Diploid (2n)
Two sets of chromosomes
One set from each parent
Found in somatic (body) cells
Produced by mitosis
Example in humans: 46 chromosomes (23 pairs)
Haploid (n)
One set of chromosomes
Found in gametes (sperm and egg)
Produced by meiosis
Example in humans: 23 chromosomes
Lesson 14 – Patterns of Inheritance
There are alternative versions of genes (alleles) that account for variations in inherited
characters.
For each character, an organism inherits two alleles of a gene, one from each parent.
- Homozygous = organism has two identical alleles for a gene
- Heterozygous = organism has two different alleles for a gene
If an organism has two different alleles for a gene, one allele determines the organism’s
appearance and is called the dominant allele; the other allele has no noticeable effect on the
organism’s appearance and is called the recessive allele
A sperm or egg carries only one allele for each inherited
character because the two alleles for a character segregate
from each other during the production of gametes – law
of segregation.
Law of segregation – pairs of alleles separate during
gamete formation; the fusion of gametes at fertilization
creates allele pairs again.
Phenotype – observable traits
Genotype – genetic makeup
For every gene the typical human possesses, they have 2
copies of that gene
Your combination of alleles is to genotypes, as what you
actually look like is to phenotype
Incomplete dominance – hybrids fall between the phenotypes of the two parents
- Expression of one intermediate trait
Codominance – both alleles are expressed in heterozygous individuals
- Expression of both alleles
Lesson 15 – Genetic Testing and Electrophoresis Lab
DNA Profiling – the analysis of DNA samples to determine whether they come from the same
individual
Polymerase Chain Reaction (PCR) – technique by which a specific segment of DNA can be
amplified – that is, targeted and copied quickly and precisely
Through PCR, a scientist can obtain enough DNA from even minute amounts of blood or other
tissue to allow a DNA profile to be constructed. The key to amplifying one particular segment of
DNA and no others is the use of primers, short (usually 15-20 nucleotides long), chemically
synthesized single-stranded DNA molecules.
Gel electrophoresis – A
method for sorting
macromolecules –
usually proteins or
nucleic acids – primarily
by electrical charge and
size.
Conventional genetic testing = a process in which clinicians take samples from patients as
clinically needed, send them to a lab for genetic testing, and discuss the test results with the
patients.
In direct-to-consumer genetic testing samples are typically collected by scratching the inside of
the mouth with a cotton swab to obtain saliva or mouth cells
Conventional clinician-centric tests are generally focused on diagnosing and treating diseases
while direct to consumer genetic tests are focused on carrying out genetic tests for disease AND
have an additional emphasis on biometric/life-related concerns.
Advantages of direct-to-consumer genetic testing:
- Lower cost
- Help consumer recognize the importance of genetics in diverse phenotypes
- Help consumers take proactive steps to improve their own health
- Non-invasive sampling
Disadvantages to direct-to-consumer genetic testing:
- Accuracy of test results
- Breadth of genetic conditions that are tested for
- Sense of false security if negative test results are received
- Lack of a follow-up with a genetic counselor
PCR is a technique that amplifies a specific segment of DNA, creating billions of copies.
Gel electrophoresis
- It is a method that separates nucleic acids on the basis of size, electrical charge, or other
properties
- Because nucleic acids carry a negative charge, they will travel through a gel toward the
positive end to separate
- Gel electrophoresis separates DNA fragments by length, with shorter molecules
migrating faster
- A shorter DNA fragment will move further through the gel than a larger DNA fragment
because it will experience less resistance.