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3. This figure shows different mutations discovered in the ß gene. A nucleotide substitution in the coding region results in an amino acid sequence change from His to Tyr at the 92 position (shown in the right panel). As a result, the resulting variant Hb M binds to the heme iron and makes it resistant to reductase. Therefore, it can no longer carry oxygen. Transcription RNA splicing Cap site RNA cleavage Frameshift Nonsense codon Unstable globin Small deletion ii i 100 bp [ Initiator codon Ⓒ Elsevier. Nussbaum et al: Thompson and Thompson's Genetics in Medicine 7e - www.studentconsult.com H 8 His92 Helix A Heme B Phe42 Elsevier Nusshoum et al: Thompson and Thompson's Genetics i D B

3. This figure shows different mutations discovered in the ß gene. A nucleotide substitution in the coding region results in an amino acid sequence change from His to Tyr at the 92 position (shown in the right panel). As a result, the resulting variant Hb M binds to the heme iron and makes it resistant to reductase. Therefore, it can no longer carry oxygen. Transcription RNA splicing Cap site RNA cleavage Frameshift Nonsense codon Unstable globin Small deletion ii i 100 bp [ Initiator codon Ⓒ Elsevier. Nussbaum et al: Thompson and Thompson's Genetics in Medicine 7e - www.studentconsult.com H 8 His92 Helix A Heme B Phe42 Elsevier Nusshoum et al: Thompson and Thompson's Genetics i D B

Human Anatomy & Physiology (11th Edition)
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
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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3. This figure shows different mutations discovered in the ß gene. A nucleotide substitution in the coding region results in an amino acid sequence change from His to Tyr at the 92 position (shown in the right panel). As a result, the resulting variant Hb M binds to the heme iron and makes it resistant to reductase. Therefore, it can no longer carry oxygen. 9 Į Y Transcription RNA splicing Cap site RNA cleavage 2 Frameshift Nonsense codon Unstable globin Small deletion ii i 3 == 100 bp Initiator codon © Elsevier. Nussbaum et al: Thompson and Thompson's Genetics in Medicine 7e - www.studentconsult.com I B His92 Helix A Heme B Phe42 E Elsevier. Nussbaum et al: Thompson and Thompson's Genetics in Medicine 7e - www.studentconsult.com
Transcribed Image Text:3. This figure shows different mutations discovered in the ß gene. A nucleotide substitution in the coding region results in an amino acid sequence change from His to Tyr at the 92 position (shown in the right panel). As a result, the resulting variant Hb M binds to the heme iron and makes it resistant to reductase. Therefore, it can no longer carry oxygen. 9 Į Y Transcription RNA splicing Cap site RNA cleavage 2 Frameshift Nonsense codon Unstable globin Small deletion ii i 3 == 100 bp Initiator codon © Elsevier. Nussbaum et al: Thompson and Thompson's Genetics in Medicine 7e - www.studentconsult.com I B His92 Helix A Heme B Phe42 E Elsevier. Nussbaum et al: Thompson and Thompson's Genetics in Medicine 7e - www.studentconsult.com
Part Three. Suppose you are a lab technician who is responsible for diagnostic analysis of individual hemoglobinopathy cases. You have identified the mutations in each individual as outlined in the list of cases below. You will need to develop the appropriate techniques to identify these mutations in their family members, predict how these mutations affect gene expression and confirm the prediction with proper molecular techniques. For each case, please decide which thalassemia the individual has and what level of gene expression should be affected. Refer to the book when necessary.
Transcribed Image Text:Part Three. Suppose you are a lab technician who is responsible for diagnostic analysis of individual hemoglobinopathy cases. You have identified the mutations in each individual as outlined in the list of cases below. You will need to develop the appropriate techniques to identify these mutations in their family members, predict how these mutations affect gene expression and confirm the prediction with proper molecular techniques. For each case, please decide which thalassemia the individual has and what level of gene expression should be affected. Refer to the book when necessary.
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