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Molecular Genetics Notes

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Molecular Genetics Notes

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~gnificance of the organism to form a chromosome

& allow long chain of DNA to be packed densely


& DNA molecules are protected by proteins
& allow accurate sorting of chromosomes during cell division without tangling
=> all cells (v nucleus) contain whole genetic information for humans >
-
X mature RBCs /X nucleus)

structure of DNA for functioning


O large molecule (v many nucleotides) >
-
carry large ant of genetic information
& stable molecule >
-
helical structure maintained by many -bonds between the two strands
& base pairs project inward in a DNA molecule >
-
protect genetic information from damage
④ pairing of specific bases enables accurate replication of DNA- > same genetic information can be

passed from generation to generation

roles of DNA
① genetic material >
-
base sequence determine sequence of amino acids in protein synthesised in cells

② growth and reproduction >


-
increase in cell no.
during growth and reproduction
X replicate only DNA can replicate
↓ ~
chromosomes = DNA +
protein

nucleic acid include DNA and RNA (long chain of nucleotides)

phosphate group (P)

nitrogenous base (N)

pentose Jugar (C ,
U, 0)

Title : structure of DNA

as -ll-bond * backbone of DNA : sugar and phosphate


....-
x ------ phosphate group

as
----- base
S
JC sugar

gene = Short Segment of DNA


>
-
base sequence in the DNA of a
gene provides the genetic code that controls the protein synthesis

DNA replication
& before nuclear division ,
DNA molecules undergo replication
② two strands uncoil and separate when H-bond broken

⑤ each strand acts as a template for the formation of a new complementary chain onto itself >
-
2 pairs
of strands are formed

* bonds are formed to join adjacent nucleotide in the chain in a reaction catalysed by DNA polymerase

properties of genetic code


① degenerate >
-

several codons code for the same amino acid (minor mutation is negligible)
& universal >
- the same triplet code codes for the same amino acids in all organisms

③ non-overlapping >
- no gaps between adjacent triplet codes on a DNA strand
>
-

triplet codes are read in an


non-overlapping manner

① unambiguous >
-
each codon only codes for one amino acid

process of protein synthesis


& DNA carries the genetic information coding for proteins
① transcription takes place in nucleus to produce mRNA

& mRNA is transported to ribosome/vER in cytoplasm for translation


⑦ a polypeptide formed in translation
transcription (nucleus)
>
-

synthesis of mRNA using a


segment of the DNA as a template
coding strand)
to)X Yother strand
template strand : transcribed =

( synthesise a mRNA
enzymes
① inside the nucleus ,
RNA polymerase binds to DNA at the start of a gene
1- bonds between complementary base pairs in gene break
DNA molecules unwind to two separate strands >
-
DNA coding strand + template strand
⑧ free RNA nucleotides line up along the DNA template strand by complementary base pairing with
H-bonds formation
& RNA polymerase moves along template strand >
-

catalyses the joining of adjacent RNA nucleotides

to form mRNA complementary to DNA template strand


① RNA polymerase reaches stop codon >
-
mRNA separates from template strand

& two polynucleotide strands of DNA reminds back into double helix

⑧ mRNA leaves nucleus through nuclear poses + attach to ribosome in cytoplasm

translation (ribosomes in VER + free visosomes in cytoplasm)


① mRNA leaves the nucleus through nuclear poses
② ribosomes bind to start codon of mRNA

③ tRNA with anticodon (UAC) brings amino acid (Met) to the ribosome

n-bonds form between the anticodon on tRNA and the complementary codon /start codon)
on mRNA

① one by one , tRNA with anticodous complementary to the codons of mRNA carry specific amino

acids to the ribosome in sequence


peptide bonds link adjacent amino acids to form a
polypeptide
⑤ ribosome moves along the mRNA to add amino acids to the growing polypeptide chain ,

one at a time until stop codon is reached

translation stops when ribosome reaches STOP codon of mRNA


⑧ completed polypeptide is released from the ribosome

⑦ vibosome , polypeptide dissociate


mRNA ,

polypeptide coils and folds into a protein due to attraction forces between different amino acids

in the polypeptide
some proteins are formed by combining two or more polypeptides

whole process
allele () is transcribed to form mRNA by complementary base pairing &
mRNA moves out of nucleus to attach to ribosomes in cytoplasm &I
tRNA carrying specific amino acids with anticodous complementary to codons of mRNA will attach to

vibosomes in sequence &2

a peptide sond will be formed between adjacent amino acids &


thus forming the polypeptide which subsequently forms the enzyme &
relationship between mRNA ,
amino acid , protein
transcription :

·
one of the DNA strands => template strand >
-
form mRNA by complementary base pairing
in nucleus

·
opposite DNA strand X involved in transcription is called coding strand
>
-
mRNA moves out from nucleus to cytoplasm

>
-
tRNA (vanti-codon) brings amino acid and pairs With codon of mRNA >
-
form

polypeptide with peptide bonds in between

relationship between nucleus and pancreas &3


·
nucleus carries genetic materials coding for hormone/digestive enzymes /pancreas functions
·
transcription takes place in nucleus to produce mRNA >
-

transported to ER for translation/


protein synthesis to produce protein hormones/digestive enzymes /relate to pancreas ! ) for
discharge/secretions at pancreas

relationship between nucleus and VER@4


· nucleus carries genetic material coding for /Specific amino acid)
·

transcription takes place in nucleus to produce mRNA

·
which is transported to VER for translation in ribosomes
·
to produce /specific protein)

difference between DNAreplication and transcription


DNA replication transcription
·
product is double-stranded DNA molecule ·
product is single-stranded RNA molecule

·
involves enzyme DNA polymerase · involves enzyme RNA polymerase
·
free nucleotides used contains deoxyribose ·
free nucleotides used contains ribose

·
each strand of DNA acts as a template for the o only one of the strands act as a template

synthesis of a new polynucleotide strand


· whole DNA molecule involved ·
only part of the DNA molecule that corresponds to

a gene is involved

significance of DNAeplication and transcription

DNA replication transcription


·
produces new DNA molecules that have the same produces mRNA molecules complementary to template
genetic information as the original one strand of DNA => transported out of nucleus to

>
-
allows same genetic information to be replicated cytoplasm for translation
to daughter cells during mitotic cell division >
-
allows protein to be synthesised according to

genetic information in DNA molecules


gene mutations

① substitution/inversion /change in one triplet codel


·
if new code specifies the same amino acid > mutation -
no effect
· if new code specifies a different amino acid
>
-
amico acid important in determining the shape of protein => change will alter protein shape
=> resulting protein become non-functional
> amino acid not involved in determining the shape of protein > change will not alter protein
- -

shape => protein remain the same

mering
skills
In the 3rd triplet code, the second base C is substituted by another base T. (1) The triplet code on the template strand GCC will become GTC. (1) The

codon changes from CGG to CAG which codes for [new amino acid]. (1) Hence, the third amino acid of the polypeptide encoded by this triplet changed

from xxx to xxx. (1)


·
if new code specifies a stop signal >
-

coding of amino acids will be stopped permanently at pt .

of mutation
>
-
new polypeptide chain shorter than original
>
-
X coil properly => conformational change of protein
and fold + alteration of active site
>
-
resulting protein : smaller in size/non-functional
mering skills
~

the mutation results in a stop codon instead of Tyr. (1) As a result, the sequence after the new stop codon will not be translated and the protein chain

produced will be much shorter than the original one. (1) Therefore, the protein will have a different shape. (1)

② deletion/insertion
·
deleting/inserting base that is not a multiple of J will shift the reading frame
·
whole amino acid sequence after pt of
. mutation is altered
·
resulting protein usually non-functional
>
-
MUST affect amino acid sequence

answering skills
-

explain why gene mutations in the DNA will affect a metabolic pathway &4

gene mutation ) metabolic pathway


C- ve ! )
↓ X
diff . / altered base sequence enzyme involved in 1) X function

↓ x
amino acid sequence enzyme-substrate complex X
↓ -
protein shape diff- >
-
active site diff .

Explain why gene mutations in the mitochondrial DNA can affect oxidative phosphorylation

Gene mutation involves alternation in the base sequence in DNA of a single gene (1)

Polypeptide produced from the mutated gene has a different amino acid sequence (1)

It folds into an enzyme with a different active site shape (1)

The active site of the enzyme can no longer fit the substrate. The enzyme can no longer function in the oxidative phosphorylation (1)
: only egg cells pass mitochondria on to children > -
mother can transmit genes for Leigh

syndrome to both male + female children >


-
father X pass down his mitochondrial genes

mutation of gene on mitochondrial DNA

chromosomal mutations

change in structure : 0 deletion & duplication & inversion & translocation


genes exchange between two

change in number :
non-homologous chromosomes

① meiosis I

·
any of the 23 pairs of homologons chromosomes failing to segregate during meiosis will lead to

abnormal no ·
of chromosomes in gamete (non-disjunction)
- result : half of the gamete possess in 2 chromosomes of same type , other half X such chromosomes

zygote with abnormal no .


of chromosomes formed
e .
g
. Klinefelter syndrome Imales) >
-

2X chromosome + 1 Y chromosome

* a gamete will receive different chromosomes when error occurs during meiosis I
& meiosis I

· chromatid) of a member of homologous chromosomes fail to separate and more into same gamete
>
-

gametes have I chromatids of same type ,


other half X have this chromosome

causes of mutations
& spontaneous mutations >
-
occurs in nature without known cause (race)

& induced mutations >


-
induced by mutagens (chemical/radiation)
>
-
occurs at a higher rate than spontaneous mutations

e .
g . of mutagens : nitrite , tar/ultraviolet ray , X-ray

why do most mutations not have observable effect


• Mutations may occur in non-coding DNA sequence

• The changed codon in the mRNA formed from transcription of the mutant gene may still code for the same amino acid

(genetic codes are degenerate), and thus does not change the amino acid sequence of the protein synthesised

• Some altered amino acid sequence may only cause insignificant change in the conformation of the protein synthesised (they

may not alter the shape of the protein)

• Alleles exist in pairs in cells. Mutations in one allele may be masked by the normal allele if the normal allele is dominant

-
Ve + ve

• A mutation may lead to a change in the shape of a protein so that • Some people have a mutation which causes a change in the structure of a

the protein cannot function properly. protein in the cell membrane —> prevents some strains of HIV from binding.

• Diseases or even death may result. As a result, these strains of HIV cannot enter the cells, and people having

this mutation are immune to the infection by these strains of HIV.

• create genetic variations

—> create new characters + increase chance of survival of species if there are

changes in environmental conditions

—> provides raw materials for natural selection to bring about evolution
why radiation induce mutations
·
radiations ionise water or other molecules to form free radicals
·
free radicals are highly reactive > damage DNA molecules
-

Why will people have Down syndrome (chromosomal mutation)


·
homologous chromosomes/sister chromatids of chromosome 21 fail to separate during anaphase I/ I

inorum formation
·
they go to the same daughter cell >
-
some of the ora produced will have an extra chromosome 21 ,

while some ord do not have chromosome 21

· a zygote with 3 chromosome 21 is formed when the abnormal orum containing an extra

chromosome 21 fuses with a normal sperm - > individual that developed from this zygote

= Down syndrome
MINI MOCK CHAPTER 26
CH 26 MOLECULAR GENETICS : 22
mean

Section A: Multiple Choice


the third DNA
1. What would be the corresponding anticodon sequence be for
-

triplet?
A. GAT TIGTCGCTACTC
B. CTA

C. CUG
11
AACAGCGATGAG

O D. GAU template strand

2. A polypeptide has the amino acid sequence:


O
alanine - alanine - valine - lysine - valine - serine

The table gives the DNA triplets for each amino acid.
Amino acid DNA Triplets
-

Serine TCG

Valine GTA

Lysine &AAA
Alanine GCT UIZ CH 26
e Stop TAA

TAA
A
substitution mutation in the DNA coding for this polypeptide chain caused the
tenth nucleotide to swap from an A to a T. How would the amino acid sequence in
-

the polypeptide now look? UL AR GENETICS


A. alanine - alanine - valine - lysine - valine - serine
B. alanine - alanine - valine - stop - valine - serine

O alanine - alanine - valine


C.

D. alanine - alanine - valine - serine - valine -serine

3. Some antibiotics work by preventing protein synthesis in bacteria by binding to


-

their
-
ribosome. Which statements explain why these antibiotics kill bacterial cells
but not human cells?

O ribosomes in human cells have a different structure to those in bacterial cells


A.

B. antibiotics recognize human antigens on the cell membrane

C. both DNA and ribosomes are located in the cytoplasm in bacteria


D. bacterial cells have different nucleotides to human cells

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MINI MOCK - CHAPTER 26
CH 26 MOLECULAR GENETICS

-X
4. Which statement is not 1 description of a gene?
/
-

8
A. Any section of a double stranded DNA molecule with a sequence of
not whole DNA gene
complementary nucleotides held together by hydrogen bonding. >
-

B. sequence of nucleotides that can be transcribed using a polymerase enzyme


-

and free activated nucleotides, which results in the formation of mRNA. V


C. A length of DNA which carries coded information as a sequence of nucleotides
that can result in the formation of polypeptide chain.
D. sequence of nucleotides which can be copied by complementary base pairing
and then be translated at a ribosome.

5. A piece of DNA was analyzed to find the number of nucleotide bases in each of the
polynucleotide strands. Some of the results are shown below:
Number of nucleotide bases

G
Strand 30 22

Strand 2 42 38

What is the maximum number of amino acids that could be coded for by this DNA? -
-

OA. 44
SE.BIO.NATION
B. 88

C. 102

D. 132 MOLECULAR GENETICS

What terminates the formation of a polypeptide chain during protein synthesis in cells?
-

A. when the ribosome reaches the end of the mRNA molecule

B. when there are no more tRNA molecules

O
C. when the ribosome reaches a stop codon on the mRNA
D RNA polymerase detaches the polypeptide chain from the ribosome

7. A length of double-stranded DNA contains 180 nucleotides and codes for enzyme Z.
-

What the maximum number of amino acids in enzyme X?

O A. 30

B. 60

C. 180

D. 540

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CH 26
MOLECULAR GENETICS

8. A polypeptide hasthe amino acid


sequencealanine-vali
1 ne-lysi
1 ne-serine-glycine.
for each amino
acid.
The table gives some possible tRNA anticodons
-

Amino acid
tRNA anticodons
-

4 Serine UCG UCA


6CT-GUA-AAA-UCA-6GD
GUA GUC
2 Valine
AAG anticodon >
- mRNA >
-
DNA
AAA
3 Lysine
GCU GCG
I Alaine

GGA GGC
J Glycine

Which sequence of bases on DNA -


could code for the polypeptide?

A. GCUGUCAAAGUAUGA X

1111
B. GCTGTCAAAAAGGAG
&
C. GCUGUAAAGUCGUAAX APE !
O D.
1 1 1 1 -
GCTGTAAAGTCGGGC

> template strand


-
9. In DNA molecule, the base sequence TGT codes for the amino acid threonine.
-

What is the base sequence of the anti-codon on the tRNA to which threonine
-
-

becomes attached?

A. UCU
BIO.NATION
mRNA : ACA

B. TGT tRNA : YOU

C. ACA MOLECULAR GENETICS


O D. UGU

10. Which of the following is the end product of translation?

A. tRNA

B. mRNA

O
C. polypeptide

D. amino acid

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MINI MOCK - CHAPTER 26
CH 26 MOLECULAR GENETICS

Section B: Structural Question


In the early 1990s company in the United States attempted to market genetically

engineered tomato (Solanum lycopersicum) that had an extended shelf life. The gene
they inserted that interfered in the production of the enzyme Beta polygalacturonase
was just one of the 31,760 genes that a tomato plant has.

It
! (a) Describe the structure of transfer RNA (tRNA) which is involved in the process of
A
translation. (2 marks)
-
tRNA is a single stranded molecule that is made up of RNA
nucleotides
-
uracil nitrogenous base/ribose sugar
- amino acid binding site is at the send
~
there is an anticodon in the middle loop -
forms a clover-leaf loop Shape
structure
(by The Flavr Savr tomato plant was genetically engineered to ripen and soften more

slowly. The inserted gene prevented the enzyme Beta polygalacturonase from
breaking down pectin which softened
the tomatoes, CH 26
The matching parts of the base sequences for the mRNA produced from the
transcription of the softening gene (in the normal tomato plant) and the mRNA base
sequence of the inserted gene are shown in the diagram below.

O bind to
O complementary binding
OmRNAX ribosome
> >
GENETICS
- -

Softening gene mRNA: ...AAUCGGAAU


↓ translation
# ↓↓ ↓
Inserted gene mRNA: .. UUAGCCUUA.. ④ A enzyme production (protein

(E) 1-ve) (5) ↓


Suggest how the inserted gene reduces the production of the softening enzyme. (4
marks)
-
The insected gene/mRNA is complementary to normal gene

-
The inserted gene binds to the normal gene to prevent protein

synthesis/ inserted gene binds to normal gene to form double-

stranded molecule/to prevent transcription and translation

-
This prevents mRNA binding to ribosomes

It does not stop all translation , as some mRNA reaches ribosomes

-
not all mRNA is bound by inserted gene mRNA/ translation is

inhibited ,
less softening enzyme is produced

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MINI MOCK - CHAPTER 26
CH 26
MOLECULAR GENETICS
DNA bases sequence on coding strand coding for amino
seven
-

(c) Figure 1 shows the


acids in the enzyme papain.
Figure

11111111
5CAATTTCAAA
AAGTIGCTITTTG3

AGU UGC nuu Un6


nun

Figure 2 shows the genetic code (mRNA codons).

Figure 2

Gly

<6
Leu (L)
C
-

D S

-
(P)

Key:
Start

Stop

Use Figure 2 to determine the sequence of amino acids in this part of the enzyme.

Write your answer in the boxes below. (2 marks)

Glu Phe Glu ser cys Phe len

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MINI MOCK - CHAPTER 26
CH 26 - MOLECULAR GENETICS

Question 02

Mitochondrial diseases (MD) are a group of genetic disorders where the body's cells
cannot respire properly. Multi-organ failure iS a common sign that the person has a

mitochondrial disorder.

(a) Mitochondrial disease (MD) often causes muscle weakness. Use your knowledge of
respiration and muscle contraction to suggest explanations for this effect of MD. (3
marks)
respiration rate -> energy for muscle contraction
* lactic acid from anaerobic respiration >
-

fatigue

(b) Apart from (a), Give 2 symptoms of a patient that experiencing MD. (2 marks)
& irliness/getting tiled easily

LATION

MOLECULAR GENETICS
! (c) One example of an MD , caused by the mutation of a mitochondrial gene that codes
for a tRNA. The mutation changes the anticodon on the tRNA, the guanine base is
substituted with adenine. Suggest how the change in the anticodon of a tRNA leads

to an MD. (4 marks)
-
The change to a tRNA leads to the Wrong amino acid being

incorporated into protein


-changes the amim acid sequence in polypeptide
-
which changes the tertiary structure of protein
* -

protein is required for oxidative phosphorylation /

Kress cycle , so less/no ATP is made -D Mitochondria !

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CHAPTER 26
MINI MOCK -
CH 26
MOLECULAR GENETICS

Question 03
substances that form
part of the cell wall of the bacterium that causes
is an antibiotic that is
Mycolic acids are
from fatty acids. Isoniazid
tuberculosis. Mycolic acids are made antibiotic inhibits the
shows how this
treat tuberculosis. The diagram
used to
in this bacterium.
production of mycolic acids
Isoniazid (i)
(inactive)

enzyme B

Isoniazid
(active)

inhibits ↓

mycolic acids >
- cell wall b
fatty acids
substrates
(4)
bacterium. Use
(a) Treatment with isoniazid leads to the osmotic lysis oi this
information in the diagram to suggest how. (4 marks)
-

since fatty acid is inhibited , mycolic acid cannot be formed

MINI
from fatty acid MOCK
-

cell wall production is inhibited


is lower than surrounding
~
water potential of bacterium
and burst
-
water enters bacterial cells by osmosis

MOLECULA R GENETIC
(b) Human cells also produce fatty acids. Isoniazid does not affect the production of

these fatty acids. Use information in the diagram to suggest one reason why
isoniazid does not affect the production of fatty acids in human cells. (2 marks)
-
human cells lack enzyme B/ have a different enzyme /

produce different fatty acids/ use different substrates


-
so isoniazid will not be activated

(c) A mutation in the gene coding for enzyme could lead to the production of a non-
functional enzyme. Explain how. (3 marks)
-
change in base sequence of DNA/gene will lead to change in
amino acid sequence/primary structure (of
enzyme)
-

cause protein to form different shape and structure


in
~
substrate not complementsly/ cannot bird to enzyme/active site/
no enzyme-substrate complexes formed

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MINI MOCK CHAPTER 26
CH 26 MOLECULAR GENETICS
Question 04

Figure shows a DNA base sequence. It also shows the effect of two mutations on this
base sequence.
Figure 1

Original DNA base sequence

Amino acid sequence Le Gly val ser


Mutation DNA base sequence

Table below shows DNA triplets that code for different amino acids.
DNA triplets Amino acid

GGT, GGC, GGA, GGG Gly


GTT, GTA, GTG, GTC Val

ATC, ATT, ATA Lle

TCC, TCT, TCA, TCG Ser

CTC, CTT, CTA, CTGG Leu 1Z CH 26

(a) Complete Figure 1 to show the sequence of amino acids coded for by the original
DNA base sequence.

(b) Some gene mutations affect the amino acid sequence. Some mutations do not.
Use the information from Figure 1 and the table to explain
whether mutation 1 affects the amino acid sequence (2 marks)

Has no effect/ same amino acid sequence / same

primary structure .
Since it still codes for Gly +
-
degenerate properties of codon

(ii) how mutation 2 could lead to the formation of a non-functional enzyme. (3

marks)
ven replaces Val
change in amino acid sequence > change in protein
-

shape and structure- > substrate cannot bind to active site/


no longer complementary/no enzyme-substrate complexes formation

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MINI MOCK . CHAPTER 26
CH 26
MOLECULAR GENETICS
part of the cell cycle are gene

(c) Gene mutations occur spontaneously. During which (2 marks)


an explanation for your answer.
mutations most likely to occur? Suggest
-

interphase
stage
-

Since DNA synthesis occurs/longest

MINI MOCK QUIZ CH 26

DSE.BIO.NATION
MOLECULAR GENETICS

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MINI MOCK - CHAPTER 26
CH 26
MOLECULAR GENETICS
Question 05
Both DNA and mRNA contain
genetic information. However, they play different roles in
heredity. DNA is responsible for the storage of genetic information
whereas mRNA iS
responsible for the transfer of
genetic information. Describe how DNA and mRNA are
similar and different in their basic units of genetic information. Discuss how the
molecular structures of DNA and mRNA are adapted to their roles of information storage
and information transfer respectively. (11 marks)
similarities and differences
⑧ basic unit consists of a sequence of J uucleotides
⑧ a total of y types of nucleotides to make up the basic unit
of genetic information

③ basic unit of genetic information is


universal for all organisms
& basic unit of genetic information has degenerate
properties
I thymine in DNA but uracil in RNA

MINI MOCK QUIZ CH 26


molecular structure of DNA

-double-stranded
> DNA
-

comparatively more stable

I
>
-
long-lasting/less prone to change information
> cannot pass through the nuclear poses storage
-

>
stays in
nucleussafely/permanently
-

molecular structure of mRNA


-

single-stranded
>
-

mRNA can pass through the nuclear poces


>
-
capable of transferring the genetic information from nucleus
to cytoplasm
>
-
genetic information is readily available for translation
Without the necessity to unwind and unzip

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