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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.

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.

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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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.
4. A nucleotide substitution in the first exon of the beta globin gene results in an amino acid sequence change from Glu to Lys at the 26 position. It also introduces a cryptic splicing site. An individual is homozygous for this mutation. D Mutation enhancing a cryptic splice donor site in an exon Hb E: exon 1 mutation in a cryptic donor site: Exon 1 60% 40% Exon 2 Intron 2 Bt Mutation Donor consensus Normal exon 1 sequence Codon 24 25 26 27 GGTGGTAAGGCC AAGGTAAGT GGTGGTGAGGCC reduced use of normal site moderate use of cryptic site Exon 3 New splice site, in a codon Hb E codon 26 GAG-AAG glu->lys
Transcribed Image Text:4. A nucleotide substitution in the first exon of the beta globin gene results in an amino acid sequence change from Glu to Lys at the 26 position. It also introduces a cryptic splicing site. An individual is homozygous for this mutation. D Mutation enhancing a cryptic splice donor site in an exon Hb E: exon 1 mutation in a cryptic donor site: Exon 1 60% 40% Exon 2 Intron 2 Bt Mutation Donor consensus Normal exon 1 sequence Codon 24 25 26 27 GGTGGTAAGGCC AAGGTAAGT GGTGGTGAGGCC reduced use of normal site moderate use of cryptic site Exon 3 New splice site, in a codon Hb E codon 26 GAG-AAG glu->lys
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