REVIEWER IN SCIENCE 10 • The tRNA enters the ribosome and brings an amino acid, and matches its

anti-codon to the mRNA

What is DNA? o Example: If the codon is AUG, then the anti-codon is UAC
• Hereditary material; stored as a code • tRNA molecules continues to bring amino acids to add to the polypeptide
• A double helix strand comprised of nucleotides which are made of until it reaches a Stop Codon (UAG, UGA or UAA found in the mRNA)
o Carbon sugar molecule
o 4 nitrogenous bases that form base pairs (linked by hydrogen Remember for the central dogma;
bonds) DNA: TAC (5’ and 3’)
§ Adenine – Thynine mRNA: AUG (A in the DNA becomes U, convert everything else) (3’ and 5’)
§ Cytosine – Guanine tRNA: UAC (T in the DNA becomes U, copy everything else)
o Sugar phosphate backbone AA: Methionine

Mendelian Pattern of Inheritance

Gregor Mendel – Father of Genetics

• from Austria
• developed the fundamental laws of heredity, used pea platns

From CrashCourse: DNA Structure and Replication: Crash Course Biology #10
* Orange – sugar phosphate // * Blue – Carbon sugar molecule
What are the Properties of DNA?
• It can replicate itself
o Each strand is a pattern for duplication
o Critical in cell division as exact copies of DNA are needed
Genetics – study of heredity
• Genes – a section of DNA found in a chromosome containing info that
determines a trait
Heredity – passing on genetic traits from parent to offspring
F1 – 1st Filial Gen; Children, F2 – 2nd Filial Gen; Grand Children
Character – color of the eyes; blue while Character trait; blue eyes

What is the Central Dogma? Types of Alleles

• It explains that the DNA codes for the RNA which codes for the proteins • Dominant
(DNA makes RNA makes proteins) o Observable traits, can cover other alleles
o [Existing] DNA to [New] DNA – Replication o Capital letters
o DNA to RNA – Transcription • Recessive
o RNA to Proteins – Translation o There but not shown
What is RNA? o Lowercase letters
• Acts as the messenger that carries the information from the DNA to the • *Codominant
ribosomes o Both alleles are expressed

How does RNA differ from DNA? The Difference Between Genotype and Phenotype
• RNA is a single strand while DNA is a double strand • Genotype characteristics – genetic make-up
• RNA has bases only while DNA has base pairs o ex. Rr, rr, RR
• The sugar in RNA is ribose which has one more oxygen atom while DNA • Phenotype characteristics
has deoxyribose
• RNA has instead Uracil (U) while DNA has Thymine (T) Two Types of Genotypes
• RNA is a host of functions while DNA is storage for genetic info • Homozygous – 2 of the same alleles
• Heterozygous – 2 different alleles
The Main Steps of the Central Dogma
Laws of Heredity
1. Replication (Existing DNA to New DNA) • Segregation
• Helicase (unzipping enzyme) unwinds the double helix o monohybrid cross – involves one character and different
o DNA becomes two separated strands hybrid traits
• Single strand binding proteins stabilize the unwound DNA _________
* Leading strand – 5’ to 3’ (left) while Lagging Strand – 3’ to 5’ (right)
Francis Circk and James Watson – created the model of the DNA molecule
Barbara McClintock – discovered that genes are able to change position on
chromosomes

GENETIC MUTATIONS
• Has a genotypic effect
• Affects only one gene
• Affects the DNA sequence, then the mRNA sequence, then the
polypeptide
• RNA Primase adds the first complementary nucleotides to show the DNA
Polymerase where to begin 1. locus/ loci – location of a gene i the chromosome
• DNA Polymerase adds new complementary nucleotides to the bases 2. antisense strand – DNA strand which acts as the template for mRNA transcription.
o It starts reading and can only add to the 3’ end to the 5’ hence why is
starts with the Leading strand (despite being called 5’ to 3’) Types of mutations
o With the lagging strand, nucleotides are formed in fragments (Okazaki *Point mutations – when the base sequence of a codon is changed
Fragments) because of it being 3’ to 5’; RNA Primers then DNA
Polymerase 1. Substitution
• Affects only a single codon
• Effects are not harmful unless the amino acid is essential to the function
of the protein (ex. Sickle cell anemia)
o Changes in the third base of the codon have no effect
• May have no effect on the phenotype
Example:

Normal gene: Substitution

o All RNA Primers in the lagging strand are replaced by another kind of
DNA Polymerase
AGT CTC AGT CAC
o All Okazaki fragments are joined together by the DNA Ligasse UCA GAG UCA GUG
Ser – Glu Ser – Val
REMEMBER
mRNA – encodes amino acids
tRNA – brings amino acids during translation The two Frameshift Mutations – Insertion and Deletion
rRNA – mixed with proteins to form Ribosomes 2. Insertion or Addition
• Addition of another base in the codon
2. Transcription (DNA is transcribed to RNA) – occurs in the nucleus • All amino acids are changed after the mutation
• Initiation Stage
• Elongation Stage Example:
• Termination Stage
3. Translation (RNA to Proteins; RNA to amino-acid chain called polypeptide) – Normal gene: Insertion
occurs in the cytoplasm CGA TGC ATC CGA TAG CAT
• Start codon (commonly AUG) – first codon of an mRNA, Methionine or GCU ACG UAG GCU AUC GUA
Met for short (eukaryotes) or fMET (prokaryotes) Al – Thr – Stop Al – Iso – Val
• Ribosome attaches to the RNA molecule
o Ribosomes are made up of proteins and rRNA (ribosomal
RNA)
o Have binding sites where mRNA comes into contact with
tRNA
3. Deletion • Degradation of the CNS
• Removal of a base in a codon • Common among Jewish, eastern Europe descent
• All amino acids are changed after the mutation Muscular Dystrophy
• Muscles gradually get weaker and weaker because of a lack of a certain
Example: protein
o Legs get smaller
Normal gene Deletion o Paralyzed, bed-ridden
CGA TGC CAC C/AT GCC ACA • Autosomal dominant and recessive (can be passed on by one or both
GCU ACG GUG GUA CGG UGU parents)
Al – Thr – Val Val – Arg – Cys
Hemophilia (The Royal Disease)
4. Disaster • Caused by a recessive gene on the X chromosome
• Example: polypeptide stops immediately o Severity is based on the amoount of clotting factor
• Oldest known hereditary bleeding disorder
Example:
Huntington’s Disease
Normal gene Disaster • Degenerative brain disorder, eventual loss of mental and physical control
CGA TGC TTC CGA TGC ATC • Also known as Huntington’s chorea
GCU ACG AAG CGA ACG UAG o Chorea – dance-like movements, referring to the uncontrolled
Al – Thr – Lys Al – Thr – Stop Codon motions
• Autosomal dominant neurodegenerative disorder
5. Inversion o Common among white Europeans
• Only two bases are affected o Death usually comes 12 years after the onset
• Affects small part of the gene • The abnormal protein produced by the Huntington’s gene contains an
elongated stretch of amino acids called glutamine
Example:
Phenylketonuria (PKU)
Normal gene Inversion • Autosomal recessive monogenic metabolic disorder
CGA TGC TTC CGA GTC TTC
• Caused by a deficiency of enzyme called phenylalanine
GCU ACG AAG GCU CAG AAG o Instead of coding for phenylalanine, coding is for Tyrosine
Al – Thr – Lys Al – Glu – Lys
• People w/ this cannot consume food with aspartame (iced tea, artificial
sugar, etc)
HEREDITARY MUTATIONS / Germ Line Mutations
• Requires low protein diet
• The gene change is in the reproductive cells, and can be passed on
o If not followed:
§ Brain damage, causing mental retardation
X-linked traits – The trait or disorder is caused by a gene on the X chromosome
§ Mousy body odor (phenylacetic acid in sweat)
Diabetes
Chromosomes
• Body does not produce insulin properly
• 1st to 22nd – autosomal chromosomes
o Insulin – needed to convert food into energy
• 23rd – sex chromosome
• Genetic mutation can lead to type 1 diabetes
o Type 1 – childhood
How is hereditary mutation different from gene mutation?
o Type 2 – Excessive lifestyle
• Genet mutation only has a genotypic effect, while hereditary mutation has
• Symptoms
a phenotypic effect.
o Extreme thirst
o Frequent urination
What makes karyotyping important?
o Unexplained Weight Loss
• It is a way to analyze the size, shape, and no. of chromosomes; it is so we
• Effects
can determine whether there is a disorder or what the disorder is.
o Leading cause of kidney failire, blindnes
o Heart disease
Down Syndrome
• Caused by Non-disjunction of the 21st chromosome
Color Blindness
o Having an extra chromosome; trisomy
• Caused by an x-linked recessive
o Nondisjunction occurs in anaphase I, meiosis I and II
• More common in males because red and green color receptors are on the
• Symptoms
X chromosome; males only have one and females have two
o Upward slant to eyes
o Small mouth and flattened nose
Albinism
o Short neck
• Monogenic, utosomal recessive
o Small hands and short fingers
o Mild to severe mental retardation • Characteristics
o Light sensitive
Kleinfelter’s Syndrome (males) o Patients are unable to produce skin or eye pigments
• Caused by Nondisjunction of the X chromosome
Anchondroplasia (dwarfism)
o Instead of XY it is XXY – 23rd chromosome
§ Extra X chromosome may come from the mother • Monogenic, autosomal dominant
or father
Hairy ears
• Symptoms
o Development of breast tissue • Y-linked trait
o Smaller testes, typically tall
o Absent sperm DIHYBRID CROSS
o May or may not have mental retardation

Turner’s Syndrome (females)

• Caused by lack of one chromosome on the 23rd
o Instead of XX it is only X
• Symptoms
o Webbed neck
o No mental retardation
o Heart defects
o Short stature

Sickle Cell Anemia

• RBC’s are crest shaped instead of disc shaped; caused by abnormal
hemoglobin What is Evolution?
• Gene mutation • Evolution is the change in the inheritable traits within a population across
o In Codon 6, GAG became GTG (Glu to Val) generations.
• Causes small blood clots that causes sickle cell pain crises
• Found commonly in African American populations Compare Lamarch’s Theory w/ the Mendelean Principle
• Lamarck’s theory states that only the developed traits are inherited, but
Cystic Fibrosis (recessive allele) the Mendelean Law says that there could be either dominant or recessive
• Caused by deletion of only 3 bases on Chromosome 7 (deletion mutation) traits.
• Characteristics
o Monogenic (involving or controlled by a single gene)
o Fluid in lungs, leading to potential respiratory failure
o Common among caucasians

Tay-Sachs disease
• Monogenic, autosomal recessive