Based on the change to the nucleóti How did this mutation change the amino acid sequence of the protein? What is the name of the condition/disorder that results from this mutation? What physical change would happen to the red blood cells in an individual with the mutation to their beta hemoglobin protein? 462

Human Anatomy & Physiology (11th Edition)
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Chapter1: The Human Body: An Orientation
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FINALLLY FRIDAY
Part B: How Mutations Can Lead to Disorders
Note: The examples given in this octivity do not represent exact DNA sequences on the genes described. To do so would be impossible as most genes contain over 1000
nucleotides that code for several hundred omino acids which are joined together to form proteins. This activity gives small segments of DNA in each of these genes and
DOES demonstrate actual mutations that do occur within them.
Gene 1. Beta Hemoglobin Gene (HBB Gene) is an important gene located on human chromosome 11 shown below. This gene plays an important role in the production of
hemoglobin, a protein in red blood cells responsible for carrying oxygen in your blood.
Part A: Normal Beta Hemoglobin: Using the un-mutated DNA sequence supplied from the HBB gene below, transcribe and translate the DNA into the corresponding arnino ack
sequence that forms hemoglobin.
NORMAL H866
GENE
MUTATED
HBB GENE
DNA
RNA
DNA
RNA
H
1
C
C
2 3
11
S
2 3
Chromosome 11
6 7
56
TGAGCT
03
S
00
9
8 9
0
ACT
D
T
1
1
1
TGAGCTACTGAGCTGAGCTT
NP
W3
ld this mutation affect an individual's health?
1
13
S5
GAG C
1
36
1
7
16
6
18
7
1
1
S
CO
2
O
2
9
UJ
01
2
2
T GAGCAT
3
2
CAG
C
2 2
N5
AA
Part B: Mutated Beta Hemoglobin: a mutation to the Beta Hemoglobin gene results in a malfunctioning hemoglobin protein in an individual's red blood cells.
This condition results in red blood cells which are usually circular becoming sickle shaped (long and skinny). This condition results in the red blood cells not being able to
carry oxygen in the blood and is known as sickle cell anemia. Sickle cell anemia can cause a patient to be unable to carry oxygen efficiently. This could cause dizziness, low
oxygen in the body, and can cause other symptoms such as infections and fatigue. Using the mutated DNA sequence supplied from the HBB gene above, transcribe and
translate the DNA into the corresponding amino acid sequence resulting in sickled red blood cells with dysfunctional hemoglobin.
1
1
222
1
2
AG
NW
25
4
3
2
S
71 AD
29
MO
7
3
M N
rich
3 3
1
S 9
33
3
3
3
1
NW
M M
AGCC GAG CTC CT GT GT
3
3
3
S
AA
Based on the change to the nucleotide sequence of the DNA, what type of mutation occurred to the Beta Hemoglobin gene?
How did this mutation change the amino acid sequence of the protein?
What is the name of the condition/disorder that results from this mutation?
What physical change would happen to the red blood cells in an individual with the mutation to their beta hemoglobin protein?
3
1x UJ
6
3
37
3
5
3
m 00
36
AGCC GAG CTC CT
3
9
7
Novem
4
3 3
m 00
O
D
1
4
55
AAA CTT
<O
C
GTGT
4
3
1
→
12 3
of
5 6
ALAIA CITE=
Transcribed Image Text:FINALLLY FRIDAY Part B: How Mutations Can Lead to Disorders Note: The examples given in this octivity do not represent exact DNA sequences on the genes described. To do so would be impossible as most genes contain over 1000 nucleotides that code for several hundred omino acids which are joined together to form proteins. This activity gives small segments of DNA in each of these genes and DOES demonstrate actual mutations that do occur within them. Gene 1. Beta Hemoglobin Gene (HBB Gene) is an important gene located on human chromosome 11 shown below. This gene plays an important role in the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen in your blood. Part A: Normal Beta Hemoglobin: Using the un-mutated DNA sequence supplied from the HBB gene below, transcribe and translate the DNA into the corresponding arnino ack sequence that forms hemoglobin. NORMAL H866 GENE MUTATED HBB GENE DNA RNA DNA RNA H 1 C C 2 3 11 S 2 3 Chromosome 11 6 7 56 TGAGCT 03 S 00 9 8 9 0 ACT D T 1 1 1 TGAGCTACTGAGCTGAGCTT NP W3 ld this mutation affect an individual's health? 1 13 S5 GAG C 1 36 1 7 16 6 18 7 1 1 S CO 2 O 2 9 UJ 01 2 2 T GAGCAT 3 2 CAG C 2 2 N5 AA Part B: Mutated Beta Hemoglobin: a mutation to the Beta Hemoglobin gene results in a malfunctioning hemoglobin protein in an individual's red blood cells. This condition results in red blood cells which are usually circular becoming sickle shaped (long and skinny). This condition results in the red blood cells not being able to carry oxygen in the blood and is known as sickle cell anemia. Sickle cell anemia can cause a patient to be unable to carry oxygen efficiently. This could cause dizziness, low oxygen in the body, and can cause other symptoms such as infections and fatigue. Using the mutated DNA sequence supplied from the HBB gene above, transcribe and translate the DNA into the corresponding amino acid sequence resulting in sickled red blood cells with dysfunctional hemoglobin. 1 1 222 1 2 AG NW 25 4 3 2 S 71 AD 29 MO 7 3 M N rich 3 3 1 S 9 33 3 3 3 1 NW M M AGCC GAG CTC CT GT GT 3 3 3 S AA Based on the change to the nucleotide sequence of the DNA, what type of mutation occurred to the Beta Hemoglobin gene? How did this mutation change the amino acid sequence of the protein? What is the name of the condition/disorder that results from this mutation? What physical change would happen to the red blood cells in an individual with the mutation to their beta hemoglobin protein? 3 1x UJ 6 3 37 3 5 3 m 00 36 AGCC GAG CTC CT 3 9 7 Novem 4 3 3 m 00 O D 1 4 55 AAA CTT <O C GTGT 4 3 1 → 12 3 of 5 6 ALAIA CITE=
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