Sickle cell disease is a medical condition involving the mutation of a single nucleotide in the HBB gene. The resulting protein affects the formation of the subunits that make up hemoglobin. People with sickle cell disease display varying degrees of abnormal hemoglobin structures, which can then cause the red blood cells to distort into a sickle shape. This conformation can lead to medical conditions, including vascular occlusion, pain, and anemia. This is a segment of the gene that codes for hemoglobin. The sequences below are the coding strand of the DNA where the mutation is found: Sequence for Wild-Type Hemoglobin 5'...TACTAATCGA AAATTGCAGA CTGTAATGGA CTGTAATGGT GCACCTGACT CCTGAGGAGA AGGTAAGT.....A..C CAGGCTTCTG CCGTTACTTG AGAGAAGTCT G...3' Sequence for Mutant (Sickle-CelI) Hemoglobin 5'...TACTAATCGA AAATTGCAGA CTGTAATGGA CTGTAATGGT GCACCTGACT CCTGTGGAGA| AGGTAAGT......A..C CAGGCTTCTG CCGTTACTTG AGAGAAGTCT G...3' The nucleotide that is underlined and in bold indicates the start of transcription. Note that '....' Indicates that there are additional nucleotides that have not been included in the sequence. 1- Write the mature mRNA for both sequences, indicating both the 5' and 3' ends. Use the diagram below to identify the intron consensus sequences Exon 1 Exon 2 5' splice site Intron 3' splice site 5' JAAGGU%AGU A. CAG G 3' 5' consensus Brànch 3' consensus sequence point sequence Pierce, Genetics: A Conceptual Approach, 7e © 2020 W. H. Freeman and Company 2- Then, translate both sequences of MRNA and indicate the mutated amino acid. Remember to include the amino and carboxyl terminus in your amino acid sequence.
Sickle cell disease is a medical condition involving the mutation of a single nucleotide in the HBB gene. The resulting protein affects the formation of the subunits that make up hemoglobin. People with sickle cell disease display varying degrees of abnormal hemoglobin structures, which can then cause the red blood cells to distort into a sickle shape. This conformation can lead to medical conditions, including vascular occlusion, pain, and anemia. This is a segment of the gene that codes for hemoglobin. The sequences below are the coding strand of the DNA where the mutation is found: Sequence for Wild-Type Hemoglobin 5'...TACTAATCGA AAATTGCAGA CTGTAATGGA CTGTAATGGT GCACCTGACT CCTGAGGAGA AGGTAAGT.....A..C CAGGCTTCTG CCGTTACTTG AGAGAAGTCT G...3' Sequence for Mutant (Sickle-CelI) Hemoglobin 5'...TACTAATCGA AAATTGCAGA CTGTAATGGA CTGTAATGGT GCACCTGACT CCTGTGGAGA| AGGTAAGT......A..C CAGGCTTCTG CCGTTACTTG AGAGAAGTCT G...3' The nucleotide that is underlined and in bold indicates the start of transcription. Note that '....' Indicates that there are additional nucleotides that have not been included in the sequence. 1- Write the mature mRNA for both sequences, indicating both the 5' and 3' ends. Use the diagram below to identify the intron consensus sequences Exon 1 Exon 2 5' splice site Intron 3' splice site 5' JAAGGU%AGU A. CAG G 3' 5' consensus Brànch 3' consensus sequence point sequence Pierce, Genetics: A Conceptual Approach, 7e © 2020 W. H. Freeman and Company 2- Then, translate both sequences of MRNA and indicate the mutated amino acid. Remember to include the amino and carboxyl terminus in your amino acid sequence.
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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Transcribed Image Text:Sickle cell disease is a medical condition involving the mutation of a single nucleotide in the HBB gene.
The resulting protein affects the formation of the subunits that make up hemoglobin. People with sickle
cell disease display varying dégrees of abnormal hemoglobin structures, which can then cause the red
blood cells to distort into a sickle shape. This conformation can lead to medical conditions, including
vascular occlusion, pain, and anemia.
This is a segment of the gene that codes for hemoglobin. The sequences below are the coding strand of
the DNA where the mutation is found:
Sequence for Wild-Type Hemoglobin
5'...TACTAATCGA AAATTGCAGA CTGTAATGGA CTGTAATGGT GCACCTGACT CCTGAGGAGA
AGGTAAGT......A..C CAGGCTTCTG CCGTTACTTG AGAGAAGTCT G...3'
Sequence for Mutant (Sickle-Cell) Hemoglobin
5'...TACTAATCGA AAATTGCAGA CTGTAATGGA CTGTAATGGT GCACCTGACT CCTGTGGAGA|
AGGTAAGT......A..C CAGGCTTCTG CCGTTACTTG AGAGAAGTCT G...3'
The nucleotide that is underlined and in bold indicates the start of transcription. Note that '....' Indicates
that there are additional nucleotides that have not been included in the sequence.
1- Write the mature MRNA for both sequences, indicating both the 5' and 3' ends.
Use the diagram below to identify the intron consensus sequences
Exon 1
Exon 2
5' splice site
Intron
3' splice site
5'
AAGGUGAGU
CAGG
3'
5' consensus
Branch
3' consensus
sequence
point
sequence
Pierce, Genetics: A Conceptual Approach, 7e © 2020 W. H. Freeman and
Company
2- Then, translate both sequences of mRNA and indicate the mutated amino acid. Remember to include
the amino and carboxyl terminus in your amino acid sequence.
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