ake the example of B-thalassemia, an autosomal recessive genetic disease that particularly affects people from around the Mediterranean. This disease is associated with an anomaly of hemoglobin, a protein essential for the transport of oxygen, which is composed of four chains: two alpha (a) and two beta (B). In case of B-thalassemia, the ẞ chains are produced in insufficient or no quantity in an individual homozygous recessive resulting in insufficient production of overall hemoglobin leading to anemia and other physiological challenges. The gene that controls the synthesis of the ẞ chains is located on chromosome 11. Here is part of the coding portion of this gene (which controls a total of 146 amino acids and of which you only see the portion 36 to 41) and one of the targeted mutations: 1. Give the sequence of amino acids from the template and mutated strands. 2. What type of point mutation is it? 3. Using the principles of the theory of evolution, explain briefly and generally why this mutation is always present in the genotype of the human species if it is associated with serious health disorders
ake the example of B-thalassemia, an autosomal recessive genetic disease that particularly affects people from around the Mediterranean. This disease is associated with an anomaly of hemoglobin, a protein essential for the transport of oxygen, which is composed of four chains: two alpha (a) and two beta (B). In case of B-thalassemia, the ẞ chains are produced in insufficient or no quantity in an individual homozygous recessive resulting in insufficient production of overall hemoglobin leading to anemia and other physiological challenges. The gene that controls the synthesis of the ẞ chains is located on chromosome 11. Here is part of the coding portion of this gene (which controls a total of 146 amino acids and of which you only see the portion 36 to 41) and one of the targeted mutations: 1. Give the sequence of amino acids from the template and mutated strands. 2. What type of point mutation is it? 3. Using the principles of the theory of evolution, explain briefly and generally why this mutation is always present in the genotype of the human species if it is associated with serious health disorders
Basic Clinical Laboratory Techniques 6E
6th Edition
ISBN:9781133893943
Author:ESTRIDGE
Publisher:ESTRIDGE
Chapter2: Basic Hematology
Section2.7: Preparing And Staining A Blood Smear
Problem 11RQ
Related questions
Topic Video
Question
Take the example of B-thalassemia, an autosomal recessive genetic disease that particularly affects people from around the Mediterranean. This disease is associated with an anomaly of hemoglobin, a protein essential for the transport of oxygen, which is composed of four chains: two alpha (a) and two beta (B). In case of B-thalassemia, the ẞ chains are produced in insufficient or no quantity in an individual homozygous recessive resulting in insufficient production of overall hemoglobin leading to anemia and other physiological challenges.
The gene that controls the synthesis of the ẞ chains is located on chromosome 11. Here is part of the coding portion of this gene (which controls a total of 146 amino acids and of which you only see the portion 36 to 41) and one of the targeted mutations:
1. Give the sequence of amino acids from the template and mutated strands. 2. What type of point mutation is it?
3. Using the principles of the theory of evolution, explain briefly and generally why this mutation is always present in the genotype of the human species if it is associated with serious health disorders
Transcribed Image Text:36
40
37 38 39
41
GEA ACC. IGG GTC TCC AAG Template ANA
Mutated ANA (B²)
GEA ACC ATC TCC AAG
Expert Solution
This question has been solved!
Explore an expertly crafted, step-by-step solution for a thorough understanding of key concepts.
Step by step
Solved in 3 steps
Knowledge Booster
Learn more about
Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.Recommended textbooks for you
Essentials of Pharmacology for Health Professions
Nursing
ISBN:
9781305441620
Author:
WOODROW
Publisher:
Cengage
Essentials of Pharmacology for Health Professions
Nursing
ISBN:
9781305441620
Author:
WOODROW
Publisher:
Cengage