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. 1. A Hispanic individual has a mutated allele with a deletion in the locus control region (LCR). This region contains an enhancer necessary for the transcription of its downstream genes (B, 8, y). He is homozygous for this allele and has no mutation anywhere else in the genome. 10 kb Normal |Hispanic εγδβ- thalassemia 10 kb 54 3 21 ↓↓ ↓↓↓ E LCR + Deletion.. E Gy Ay + Gy Ay + ψβ ψβ + 8 + SE B 8 B + + Elsevier. Nussbaum et al: Thompson and Thompson's Genetics in Medicine 7e - www.studentconsult.com
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. 1. A Hispanic individual has a mutated allele with a deletion in the locus control region (LCR). This region contains an enhancer necessary for the transcription of its downstream genes (B, 8, y). He is homozygous for this allele and has no mutation anywhere else in the genome. 10 kb Normal |Hispanic εγδβ- thalassemia 10 kb 54 3 21 ↓↓ ↓↓↓ E LCR + Deletion.. E Gy Ay + Gy Ay + ψβ ψβ + 8 + SE B 8 B + + Elsevier. Nussbaum et al: Thompson and Thompson's Genetics in Medicine 7e - www.studentconsult.com
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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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.
1. A Hispanic individual has a mutated allele with a deletion in the locus control region (LCR). This
region contains an enhancer necessary for the transcription of its downstream genes (ß, 6, y).
He is homozygous for this allele and has no mutation anywhere else in the genome.
Normal
|Hispanic εγδβ-
thalassemia
10 kb
10 kb
54 3 21
↓↓↓↓↓↓
LCR
E
+
Gy Ay
+
Gy Ay
ψβ
+
-
ψβ
8
+
8
B
...Deletion..
Ⓒ Elsevier. Nussbaum et al: Thompson and Thompson's Genetics in Medicine 7e - www.studentconsult.com
30
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