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TRAITS
ALLELES
Variations of a gene
GENOTYPE
The combination of alleles expressed in your genes
PHENOTYPE
The genetic traits expressed physically
COLOUR BLINDNESS
COLOUR BLINDNESS
WOMAN
XNXN = normal
XNXC = normal but
carrier
XCXC = color blind
XX =
XY =
XN = allele for normal vision
XC = allele for color blindness
XN Y
X
N
X
C
XN Y
XC Y
X
MAN
XNY = normal
XCY = color blind
XC Y
X
XC Y
X
COLOUR BLINDNESS
WOMAN
XNXN = normal
XNXC = normal but
carrier
XCXC = color blind
XX =
XY =
XC
XC
XC
BLOOD TYPE
A
BLOOD TYPE
A
A
+
A
A
-
A
O
+
A
O
-
B
B
+
B
B
-
B
O
+
B
O
-
A
B
+
A
B
-
O
O
+
O
O
-
EYE COLOUR
B = dominant allele for brown
b = recessive allele for blue
b
b
B
B
B
b
B
b
b
b
HISTORY OF
GENETICS
THE HUMAN
GENOME PROJECT
PROJECT
MAP
SEQUENCE
STORE
APPLY KNOWLEDGE
APPLY KNOWLEDGE
EARLY
DETECTION
BETTER
MATCH
of diseases
for transplants
DNA
IDENTIFICATI
ON
Crime Scenes
Paternity tests
BIOENGINEERI
NG
BETTER DRUG
DESIGNS
for diseases
Natural Pesticides
DNA
PHENOTYPE = Observable characteristics
Genes DO NOT form proteins directly
GENETIC MATERIAL
GENOME
= sum of all genetic material
CHROMOSOMES
= a single piece of coiled DNA containing many genes
(23 PAIRS)
GENES
a segment of nucleic acid that specifies a trait.
(500 4500 per chromosome)
BASE PAIRS
a pair of nucleotides
(50 450 million per chromosome)
NUCLEOTIDES
NUCLEIC ACIDS
= long chain of nucleotides
1)DNA
(deoxyribonucleic acid)
-contains the genetic code (the order of
nucleotides)
(the blue prints of an
organism)
DNA Structure
DOUBLE HELIX = two chains of DNA arranged
into a spiral ladder
NUCLEOTIDES = millions of tiny subunits
Each nucleotide consists of:
1. Phosphate group
Phosph
2. Pentose sugar
ate
3. Nitrogenous base
Pento
se
Sugar
Nitrogeno
us
Base
NUCLEOTIDES
BACKBONE of DNA formed from
phosphate and sugar
base
NUCLEOTIDES
GATTACA
I
I I
NUCLEOTIDES
The building blocks of DNA and
RNA
Only 4 but differ slightly
1) DNA
Guanine
Cytosine
(G
Adenine
(A)
GC
A-T
Thymine (T)
Uracil (U)
2) RNA
Pairs of nucleotides
(C)
PYRAMIDIN
E
= 1 ring
PURIN
E
=2
rings
BASE PAIRS
GC
A-U
Nucleotides
A
Adenine
Thymine
Cytosine
Guanine
H bonds
= weak bonds that join nucleotides
A-T 2 H bonds
G-C 3 H bonds
C
T
G
A
C
A
G
T
C
G
T
DNA
Gene
CGAT
1) DNA
REPLICATION
Separation
CGATATGCAAGGCC
TT
GCTATAGCTTCCGG
AA
Replication
CGATATGCAAGGCC
GCTATAGCTTCCGG
TT
AA
CGATATGCAAGGCC
TT
GCTATAGCTTCCGG
AA
2) PROTEIN
SYNTHESIS
Transcription
RN
GCUA
A
Translati
on A.A.
Protei
TRAIT
GENE
(Unique sequence of DNA
nucleotides)
Sequence of RNA nucleotides
Sequence of A.A.
Unique Protein
TRAIT or PHENOTYPE
Semi-Conservative Model
Semi-Conservative Model
5
A
C
T
3
DNA
RNA
Chains
Sugar
Deoxyribose
Ribose
Pyramidines
Thymine, Cytosine
Uracil, Cytosine
Purines
Adenine, Guanine
Adenine, Guanine
FUNCTION OF
RNA
TRANSCRIPTION:
Transference of
genetic info from
DNA to RNA
NUCLEU
S
CYTOPLAS
M
TRANSLATION:
Transference of info
from RNA to
proteins
TRANSCRIPTION
1. An enzyme separates the DNA strands,
creating a bubble to permit copying
2. RNA puts necessary nucleotides to form a
molecule of Messenger RNA (mRNA)
3. Match up of:
T with A
G with C
A with U
4. Segment of DNA is copied and mRNA leaves
nucleus
UUU (Phe)
UCU (Ser)
UAU (Tyr)
UGU (Cys)
UUC (Phe)
UCC (Ser)
UAC (Tyr)
UGC (Cys)
UUA (Leu)
UCA (Ser)
UAA (STOP)
UGA (STOP)
UUG (Leu)
UCG (Ser)
UAG (STOP)
UGG (Trp)
CUU (Leu)
CCU (Pro)
CAU (His)
CGU (Arg)
CUC (Leu)
CCC (Pro)
CAC (His)
CGC (Arg)
CUA (Leu)
CCA (Pro)
CAA (Gln)
CGA (Arg)
CUG (Leu)
CCG (Pro)
CAG (Gln)
CGG (Arg)
AUU (Ile)
ACU (Thr)
AAU (Asn)
AGU (Ser)
AUC (Ile)
ACC (Thr)
AAC (Asn)
AGC (Ser)
AUA (Ile)
ACA (Thr)
AAA (Lys)
AGA (Arg)
ACG (Thr)
AAG (lys)
AGG (Arg)
GUU (Val)
GCU (Ala)
GAU (Asp)
GGU (Gly)
GUC (Val)
GCC (Ala)
GAC (Asp)
GGC (Gly)
GUA (Val)
GCA (Ala)
GAA (Glu)
GGA (Gly)
GUG (Val)
GCG (Ala)
GAG (Glu)
GGG (Gly)
U
C
A
G
U
C
A
G
U
C
A
G
U
C
A
G
Amino Acid
Abbreviation
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
Alanine
Arginine
Asparagine
Aspartic acid
Cysteine
Glutamic acid
Glutamine
Glycine
Histidine
Isoleucine
Leucine
Lysine
Methionine
Phenylalanine
Proline
Serine
Threonine
Tryptophan
Tyrosine
Valine
Ala
Arg
Asn
Asp
Cys
Glu
Gln
Gly
His
Ile
Leu
Lys
Met
Phe
Pro
Ser
Thr
Trp
Tyr
Val
Coding
DNA
Template
DNA
5
T
A
C
T
C
A
G
A
T
A
T
C
3
mRNA
codon
tRNA
Anti-codon
A.A.
short name
A.A.
long name
TRANSLATION
1. mRNA binds to a ribosome and begins to
interpret the message
2. mRNA information is read in groups of three
letters = CODON
3. transfer RNA (tRNA) binds to each codon of
mRNA
has corresponding ANTICODON
other side has A.A. which joins to form
proteins at ribosome
A
A.
m
R
N
A
Amino acid
m
R
N
A
Two different
Amino acids
m
R
N
A
polypeptide
A polypeptide chain
Even this is a very, very short polypeptide chain.
Most have hundreds or thousands of amino acids.
DNA thread
TRANSCRIPTION
RNA
Codon
TRANSLATION
Polypeptide
Amino acid
TYPES of RNA
NAME
FUNCTION
Messenger
RNA (mRNA)
Transfer RNA
(tRNA)
Ribosomal RNA
(rRNA)
Coding
DNA
Template
DNA
5
T
A
C
T
C
A
G
A
T
A
T
C
3
mRNA
codon
tRNA
Anti-codon
A.A.
short name
A.A.
long name
DNA
A polymer made of
MONOMERS called
Is formed from:
Is made by an P
ENZYME called
SUMMARY
N
RNA
There are
3 TYPES called
Happens in a
ORGANELLE called
And with proteins they form
PROTEINS
ENZYMES
= biological catalyst
Usually end in
ASE
DNA REPLICATION
ORGIN OF REPLICATION (OR)
= short specific sequence of DNA nucleotides where
replication of a chromosome begins
=
DNA REPLICATION
REPLICATION FORKS
= Y shaped region at end of bubble where parental strands of DNA are
unwound
Helicase
untwists double helix at replication
Separates parental strand
Topoisomerase
Relieves strain by breaking, swivelling and rejoining DNA strands
Primase
Synthesizes short RNA primer used to begin DNA synthesis
DNA Ligase
joins Ozaki fragments
TRANSCRIPTION
1) RNA Polymerase
separates 2 DNA strands
joins RNA nucleotides in 5 to 3direction complementary to
DNA
doesnt need primer
PROMOTOR Signals where transcription begins
TERMINATOR Signals where transcription ends
TRANSCRIPTION UNIT area transcribed
TRANSCRIPTION
RNA SPLICING
= interspersed coding regions are removed from long regions of
noncoding regions
= cut and paste
EXONS - coding regions later translated into a.a.
INTRONS noncoding regions between coding regions
SPLICEOSOME complex that cuts out introns and puts
them together
RIBOZYMES RNA that functions as enzymes
e.g. some introns, ribosomes
MUTATIONS
= changes to genetic information of a cell
GENETIC DISORDER
= if mutation has adverse affect on phenotype
SUBSTITUTION = replacement of one nucleotide
a) SILENT MUTATION
a.a. does NOT change no effect
b) MISSENSE MUTATION
a.a changes to another no effect or new trait
c) NONSENSE MUTATION
change to STOP codon non-functional protein
INSERTIONS and DELETIONS
FRAMESHIFT disastrous non-functional protein
DNA MUTATIONS
If a mutation in the DNA strand :
1) changes the base in position 9 to a C
how would this affect the protein ?
2) changes the base in position 5 to a T
what will the sequence be ?
3) eliminates the first codon
Which protein will be produced
4) eliminates the last codn, what would happen ?
Coding
DNA
Template
DNA
5
T
A
C
T
C
A
G
A
T
A
T
C
3
mRNA
codon
tRNA
Anti-codon
A.A.
short name
A.A.
long name
TRANSLATION
Initiation
Enlongation
Termination