DATE: NAME:

BLOCK:

DNA, GENETICS, & EVOLUTION

(A) INTRODUCTION TO DNA
 DNA = D___________________N_______________ A________
 DNA is called the ___________________ of inheritance
 is found in ____________ cell of your body
 is like a _____________________ for building and running your body
 is ___________________ for all individuals (Except identical twins)
 makes ____________________ possible

(B) STRUCTURE OF DNA

 depending on the organism, DNA can be a very large molecule
 DNA is a _____________________ of building blocks called _______________________
 The nucleotide sequence is like a _________________ that spells out instructions for the body
 Each instruction is called a ___________, which controls a particular aspect of the organism
ex)

(1) NUCLEOTIDES
 Nucleotides are the ______________ units (building blocks) of DNA
 each nucleotide has _____ parts:
(a) Pentose (5 Carbon) Sugar (S) The sugar and phosphate groups make up
the main support structure of DNA called the
(b) Phosphate Group (P) sugar-phosphate backbone
(c) Nitrogenous Bases
 bases act like “_____________” that spell out the instructions given by DNA
 include two different families:
(i) Pyrimidines – includes ________________ (C) and ________________ (T) (below)

(ii) Purines – includes _________________ (A) and __________________ (G) (above)

(2) POLYNUCLEOTIDE CHAIN
 when nucleotides combine:
 the ____________ and _________________ make up
the structural _________________ of DNA
 nitrogenous bases are ___________________ to each sugar
 so far…we have only described a ___________ strand of
DNA (one side of the DNA molecule), but DNA is actually a
molecule made up of 2 polynucleotide chains.

(3) DOUBLE HELIX STRUCTURE OF DNA

 DNA is a ________________ stranded molecule, made of ______
polynucleotide chains which _____________ around an imaginary axis
 sugar-phosphate backbones are around the __________________
 nitrogenous bases _____________ together on the inside
 _____ always pair with _____
No Exceptions!
 _____ always pair with _____
 ___________________ bonds between the nitrogenous bases hold the _____strands together

TRIVIA: Name the scientists who are most famous for first describing the double helix structure of DNA.

TRIVIA: A single hydrogen bond is very weak….how does the very large DNA molecule hold together?

 Each double helix strand is folded into compact structure called

 a ______________________
 DNA in a single human chromosome ranges in size from
5.0 x 107 nucleotide pairs in the _________________ chromosome
(stretched full-length this molecule would extend 1.7 cm) up to
2.5 x 108 nucleotide pairs in the ______________ chromosome
(which would extend 8.5 cm).
 each human cell contains _____ pairs of chromosomes (46 in total)
 Stretched end-to-end, all the DNA in the nucleus of a single
human cell would extend over _______ meters.

(C) FUNCTION OF DNA - DNA has ____________ major functions:

(1) DNA controls ______________ activities
 DNA carries a _____________ or recipe to produce the elements required for life.
 Genetic ________________ are encoded in the __________________ of bases strung together in DNA.
 RNA molecules (similar to DNA) function in the process by which the DNA instructions are used in
building the _________________ on which all forms of life are based (protein synthesis)
 DNA inherited from parents contain thousands of ______________ (“instructions”)
 Genes ____________________ that allow cells to _______________ and _____________________
_____________ of DNA which contains a _____________ to build a specific _____________
(proteins can help the body work (ex. Enzymes) or can make up the physical structure of the body (ex. Muscles))

THE BIG PICTURE

 humans have _____ pairs of chromosomes
 22 pairs appear __________________
 1 pair has _________________ sizes (X and Y)
 all _____________ cells contain chromosomes in
__________ (homologous pairs – 1 from dad, 1 from
mom)
 each chromosome carries an ________________, located
in a gene location, which is called an ______________
 Example: Gene for Freckles
 Two alleles: ____ (dominant), ____ (recessive)
From From
Dad Mom
Genetic Code Physical Trait
Gene #1
(Blood Type) (Genotype) (Phenotype)
Gene #2 FF
(Freckles)
Gene #3 Ff
(Huntingtin)
ff
Gene #4
(Knuckle Hair)
 Remember…each allele (gene) is a long code of ______________________________________ (A,T,C,G)
WHAT
 these bases form a _________ which isARE PROTEINS?
used by the cell to produce specific materials
(________________) required by the cell
 long strings/chains of ______________________________ (building blocks of proteins)

 required for the ________________, __________________, and ____________________ of

the body's cells, tissues, and organs.
 ribosomes (inside the cell) _____________________ the DNA code into a _______________ of amino
acids (called a polypeptide, or ‘protein) (See Table Below)
A G T C
A AAA Phenylalanine AGA Serine ATA Tyrosine ACA Cysteine
AAG (Phe) AGG (Ser) ATG (Tyr) ACG (Cys) A
AAT Leucine AGT ATT Stop ACT Stop G
AAC (Leu) AGC ATC Stop ACC Tryptophan T
(Trp) C
G GAA Leucine GGA Proline GTA Histidine GCA Arginine A
GAG (Leu) GGG (Pro) GTG (His) GCG (Arg) G
GAT GGT GTT Glutamine GCT T
GAC GGC GTC (Gln) GCC C
T TAA Isoleucine TGA Threonine TTA Asparagine TCA Serine A
TAG (Ile) TGG (Thr) TTG (Asn) TCG (Ser) G
TAT TGT TTT Lysine TCT Arginine T
TAC Methionine(start) TGC TTC (Lys) TCC (Arg) C
(Met)
C CAA Valine CGA Alanine CTA Aspartic acid CCA Glycine A
CAG (Val) CGG (Ala) CTG (Asp) CCG (Gly) G
CAT CGT CTT Glutamic acid CCT T
CAC CGC CTC (Glu) CCC C

 The DNA gene is first ________________ into a portable molecule called RNA which can be sent out of
the cell nucleus into the ____________________ where proteins are made (This allows the original DNA
copy to remain safe in the nucleus)
 ____________ codes of DNA message are used to produce the _____________________ chain which
makes up the _______________
ex) DNA Sequence : T A C T G A G C C G T A C A G A T T

Amino Acid
Sequence :

TRY TRANSLATING THIS ONE!! 

DNA Sequence : T A C C A G G C G T G C A T G G C A G G G A C T

Amino Acid
Sequence :
 Q: WHAT DO ALL THESE SEQUENCES HAVE IN COMMON?

(2) To make _______________ of itself to pass onto other cells

 DNA copies itself through a process called “DNA _______________________”
 During this process, DNA acts a _______________ to allow proper copying
 Proteins are used to _____________ the double helix into single strands (why is this so easy?)
 More proteins are used to build a new strand ________________ to each of the single strands
 This process is called ____________________________ because the new double helixes
produced are ½ original DNA and ½ new DNA (see picture to the right)

(3) Responsible for creating genetic_______________ (Connection: DNA, Variation, & Evolution)
 __________________ and _________________________ in the structure and number of DNA
molecules are the source of life's ____________________
 we know: DNA  Protein (Who We Are)
 generally…everybody is __________________ , which is true for most populations of organisms
 this “____________________” in the population, allows populations to survive if environmental
conditions change
Question: Where does this variation come from?
 if everybody is different (different ______________________), there must be as many different DNA
combinations (different ___________________________)
 variation in DNA combinations is created many different ways:
(A) Sexual Reproduction
 during sexual reproduction, special reproductive cells (_______________) are made
through a process called ______________ (Male Cells = Sperm, Female Cells = Eggs)

Meiosis Review:
  variation can arise during Meiosis
through the following methods:

(i) Independent Assortment Of

Chromosomes
 when chromosomes line up
during meiosis, the side
they line up on is random

 if only 2 pairs of chromosomes, there are 4 possible combinations (2n = 22 = 4)

 if only 3 pairs of chromosomes, there are 8 possible combinations (2n = 23 = 8)
 humans have 23 pairs of chromosomes…the # combinations = 2n = 223 =

INTERESTING FACT
The egg, that turned into you, contained a 1 in 8 million DNA combination of your mom’s DNA. The
sperm that fertilized that egg also contained a 1 in 8 million DNA combination of your dad’s DNA. So,
the probability of your parents having you as a child was 1 in 64 trillion!!! Wow…you’re so special! 

But wait….we are not done yet!

(ii) Crossing Over (Genetic Recombination)

 when the X-somes line up during meiosis, there might be an
________________ of DNA between the __________________
and ____________________ chromosomes (See Figure to the right)
 the exchanged material contains the same genes, but the alleles
may be different
 can occur as many as _____ times per X-some pair
(iii) Random Fertilization
 organisms often mate with _______________ partners
 this creates new ___________________ of gene alleles
NOTE: Often, mating is not completely random, but variation is still created
 this can also lead to a phenomenon called genetic _____________
→ if some individuals mate/reproduce more than others, then their ‘genes’ will be more numerous
in the next generation which can, over generations, lead to change in a population.

Summary: All 3 processes re-shuffle the genes, which are passed onto offspring during sexual reproduction.
This results in high levels of genetic _________________ which required for evolution to occur)
(B) MUTATIONS
  MUTATION = _______________ or _______________ to the _______ (genetic material) of a living
organism

Normal DNA: T A C A G T C T C C A T A T T Mutated DNA: T A C T G T C T C C A T A T T

Protein: Protein:

 anything that causes a mutation is called a _____________________

ex)
 tend to occur while the cell is _______________________ its DNA during cell reproduction
 mutations can cause a variety of different effects:
(a) POSITIVE MUTATIONS
 a ____________ in DNA that causes the production of a ______________ protein, which
________________ the organism. ex)
(b) NEGATIVE MUTATIONS
 a ____________ in DNA that causes the production of a ______________ protein, which
____________ the organism. ex)
(c) NEUTRAL MUTATIONS
a change in DNA that does _________ change the __________________ that is produced

Normal DNA: T A C A G T C T C C A T A T T Mutated DNA: T A C A G G C T C C A T A T T

Protein: Protein:

Sickle-Cell Anemia – An Interesting Case

How could a "bad" gene -- the mutation that causes the sometimes lethal sickle cell disease -- also be beneficial?

Doctors noticed that patients who had sickle cell anemia, a serious hereditary blood disease, were more likely to survive malaria, a disease which
kills some 1.2 million people every year. What was puzzling was why sickle cell anemia was so prevalent in some African populations.

The sickle cell mutation is a like a typographical error in the DNA code of the gene that tells the body how to make a form of hemoglobin (Hb), the
oxygen-carrying molecule in our blood. Every person has two copies of the hemoglobin gene. Usually, both genes make a normal hemoglobin
protein. When someone inherits two mutant copies of the hemoglobin gene (HbS), the abnormal form of the hemoglobin protein causes the red
blood cells to lose oxygen and warp into a sickle shape during periods of high activity. These sickled cells become stuck in small blood vessels,
causing a "crisis" of pain, fever, swelling, and tissue damage that can lead to death. This is sickle cell anemia.

But it takes two copies of the mutant gene, one from each parent, to give someone the full-blown disease. Many people have just one copy, the
other being normal. Those who carry the sickle cell trait do not suffer nearly as severely from the disease.

Researchers found that the sickle cell gene is especially prevalent in areas of Africa hard-hit by malaria. In some regions, as much as 40 percent of
the population carries at least one HbS gene. It turns out that, in these areas, HbS carriers have been naturally selected, because the trait provides
some resistance to malaria. Their red blood cells, containing some abnormal hemoglobin, tend to sickle when they are infected by the malaria
parasite. Those infected cells flow through the spleen, which culls them out because of their sickle shape -- and the parasite is eliminated along with
them.

Scientists believe the sickle cell gene appeared and disappeared in the population several times, but became permanently established after a
particularly vicious form of malaria jumped from animals to humans in Asia, the Middle East, and Africa. In areas where the sickle cell gene is
common, the immunity conferred has become a selective advantage. Unfortunately, it is also a disadvantage because the chances of being born
with sickle cell anemia are relatively high.

For parents who each carry the sickle cell trait, the chance that their child will also have the trait -- and be immune to malaria -- is 50 percent. There
is a 25 percent chance that the child will have neither sickle cell anemia nor the trait which enables immunity to malaria. Finally, the chances that
their child will have two copies of the gene, and therefore sickle cell anemia, is also 25 percent. This situation is a stark example of genetic
compromise, or an evolutionary "trade-off."