Lec 3 - MCQ Genetics Quiz

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Which of the following genotypes represents the blood group AB?

AO

AA

BB

AB (correct)

What is the function of hemoglobin?

To carry oxygen (correct)

To fight infections

To regulate body temperature

To carry carbon dioxide

What is the solubility of hemoglobin in red blood cells (RBCs)?

Moderate

Variable

High (correct)

Low

What is the consequence of exceeding the solubility limit of hemoglobin in physiological solution?

Polymerization and precipitation Signup and view all the answers

What is the purpose of erythrocytes in relation to hemoglobin?

To keep hemoglobin from being lost Signup and view all the answers

What is the consequence of sickle cell disease under conditions of low oxygen tension?

Polymerization of hemoglobin Signup and view all the answers

What is the genotype for sickle cell trait?

HbAS Signup and view all the answers

What is the most common genetic disorder of hemoglobin?

Thalassemia Signup and view all the answers

What is the consequence of β-thalassemia?

Absent or reduced β globin Signup and view all the answers

What is the consequence of α-thalassemia?

Absent or reduced α globin Signup and view all the answers

Which chromosome is the β-globin gene located on?

Chromosome 11 Signup and view all the answers

What is the genotype of a person with β-thalassaemia minor (β-thal trait)?

β/β+ Signup and view all the answers

What is the genotype of a person with β-thalassaemia major?

β/β0 Signup and view all the answers

How many α-globin genes are there on Chromosome 16?

Four Signup and view all the answers

What is the genotype of a person with α-thalassaemia trait?

α+/α0 Signup and view all the answers

What is the most common form of severe α-thalassaemia?

HbH disease Signup and view all the answers

What is the purpose of the LCR in relation to β-globin genes?

Controls the expression of β-globin genes Signup and view all the answers

What can haemoglobin electrophoresis be used to identify?

Both sickle cell anaemia and sickle cell trait Signup and view all the answers

What is the direction of expression of Hb genes on Chromosome 11 and Chromosome 16?

5' to 3' Signup and view all the answers

How many defective loci are present in α-thalassaemia major (Hb Bart)?

Four Signup and view all the answers

Which locus is responsible for the synthesis of a sequence of monomers on the surface of red blood cells?

Fucosyltransferase Locus Signup and view all the answers

What determines the ABO blood group?

ABO Locus Signup and view all the answers

What is the term for two alleles of the same gene, which code for proteins with different specific functions, being co-expressed in (compound) heterozygote individuals?

Codominance Signup and view all the answers

In codominance, what type of phenotype is produced when two alleles are co-expressed?

Additional phenotype Signup and view all the answers

Which blood group exhibits codominance?

AB Signup and view all the answers

What is the basic genetics of haemoglobin biosynthesis?

It changes during development Signup and view all the answers

What is the genetic mutation that leads to sickle cell anaemia?

H Locus mutation Signup and view all the answers

How can sickle cell anaemia be diagnosed clinically?

By genetic testing Signup and view all the answers

Why do mutations that disrupt balanced globin production lead to thalassaemias?

Because they cause abnormal haemoglobin synthesis Signup and view all the answers

Which locus is responsible for the synthesis of a sequence of monomers on the surface of red blood cells?

Fucosyltransferase Locus Signup and view all the answers

Which of the following is a possible consequence of a gain-of-function mutation?

Increase in normal gene function Signup and view all the answers

Which type of mutation can lead to a frameshift?

Deletion Signup and view all the answers

What does the mutation G > A mean?

Guanine changes to Adenine Signup and view all the answers

Which type of mutation can lead to a missense or nonsense mutation?

Substitution Signup and view all the answers

Which type of mutation can lead to a change in the splicing of mRNA?

Substitution Signup and view all the answers

Which type of mutation can lead to a change in the protein folding?

Substitution Signup and view all the answers

Which type of mutation can lead to a change in the number of tandem repeats?

Dynamic mutation Signup and view all the answers

Which type of mutation can lead to a decrease or loss of gene function?

Deletion Signup and view all the answers

Which type of mutation can lead to an increase in gene function?

Insertion Signup and view all the answers

Which type of mutation can lead to a change in the reading frame of the DNA sequence?

Dynamic mutation Signup and view all the answers

Which of the following best describes a silent mutation?

A mutation that has no effect on the amino acid sequence Signup and view all the answers

What category of mutation best describes the Glutamic acid > Valine mutation that converts HbA to HbS, with respect to O2 carrying function?

Hypermorph Signup and view all the answers

What is the risk associated with sickle cell anemia?

Acute Chest Syndrome (ACS) Signup and view all the answers

What is the purpose of prenatal diagnosis?

To understand what is technically/scientifically possible Signup and view all the answers

How can prenatal diagnosis for sickle cell disease be performed?

Chorionic Villous Sampling Signup and view all the answers

Is newborn screening for sickle cell disease available in Ireland?

No Signup and view all the answers

What is the allele frequency of sickle cell gene in African Americans?

4% Signup and view all the answers

What is the incidence of sickle cell disease in African Americans?

1/500 Signup and view all the answers

What is the definition of evolution in population genetics?

The change in the frequency of an allele in a population over time Signup and view all the answers

What is the term for the occurrence of two or more discontinuous forms of a trait in a single population?

Polymorphism Signup and view all the answers

Which of the following best describes the concept of balanced polymorphism?

The occurrence of multiple genetic forms in a population in such proportions that the rarest form cannot be explained by mutation or immigration alone Signup and view all the answers

Which of the following is true about sickle cell trait?

It is a dominant trait inherited from one parent Signup and view all the answers

What is the pattern of inheritance for sickle cell anemia?

Recessive Signup and view all the answers

What is the consequence of selection pressure for the maintenance of the heterozygous state in sickle cell disease?

Increased frequency of HbAS in the population Signup and view all the answers

Which of the following is true about thalassemias?

They are characterized by an imbalance in the production of structurally normal globin chains Signup and view all the answers

Which of the following is a common mutation associated with β-thalassemias?

A-G mutation at position -34 in the HBB gene promoter Signup and view all the answers

What is the consequence of a large 5' deletion in the β-globin gene?

Decreased production of β-globin Signup and view all the answers

How would you perform prenatal diagnosis of β-thalassemia?

Check the blood of both parents for β-thalassemia trait Signup and view all the answers

What is the consequence of α-thalassemia major (Hb Bart)?

Decreased production of α-globin Signup and view all the answers

What is the purpose of erythrocytes in relation to hemoglobin?

To transport oxygen to the tissues Signup and view all the answers

Which of the following correctly describes the concept of balanced polymorphism?

The occurrence of two or more genetic forms in a population in such proportions that the rarest form cannot be explained by mutation or immigration alone Signup and view all the answers

Which of the following statements about sickle cell trait (HbAS) is true?

It is a cryptic phenotype inherited in a dominant pattern Signup and view all the answers

What is the consequence of the selection pressure for the maintenance of the heterozygous state in sickle cell disease (HbSS)?

Extinction of HbSS by negative selection Signup and view all the answers

Which of the following best describes the pattern of inheritance for sickle cell anaemia (HbSS)?

Autosomal recessive Signup and view all the answers

What is the most likely reason for the abnormal shape of the face in individuals with β-thalassaemia?

Distortion of bones due to increased haematopoiesis Signup and view all the answers

Which of the following accurately describes the purpose of prenatal diagnosis for β-thalassaemia?

To determine the genotype of the parents Signup and view all the answers

What is the consequence of a mutation in the HBB gene promoter position -34?

No binding and no transcription Signup and view all the answers

What is the consequence of a large 5' deletion in the β-globin gene?

Decreased production of β-globin Signup and view all the answers

How can prenatal diagnosis of β-thalassaemia be performed if the blood of the baby is not expressing β-globin to sufficient levels?

Check the blood of both parents by Hb electrophoresis Signup and view all the answers

What is the purpose of the LCR (locus control region) in relation to β-globin genes?

To regulate the expression of β-globin genes Signup and view all the answers

Lec 3 - MCQ Genetics Quiz

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Questions and Answers

Which of the following genotypes represents the blood group AB?

What is the function of hemoglobin?

What is the solubility of hemoglobin in red blood cells (RBCs)?

What is the consequence of exceeding the solubility limit of hemoglobin in physiological solution?

What is the purpose of erythrocytes in relation to hemoglobin?

What is the consequence of sickle cell disease under conditions of low oxygen tension?

What is the genotype for sickle cell trait?

What is the most common genetic disorder of hemoglobin?

What is the consequence of β-thalassemia?

What is the consequence of α-thalassemia?

Which chromosome is the β-globin gene located on?

What is the genotype of a person with β-thalassaemia minor (β-thal trait)?

What is the genotype of a person with β-thalassaemia major?

How many α-globin genes are there on Chromosome 16?

What is the genotype of a person with α-thalassaemia trait?

What is the most common form of severe α-thalassaemia?

What is the purpose of the LCR in relation to β-globin genes?

What can haemoglobin electrophoresis be used to identify?

What is the direction of expression of Hb genes on Chromosome 11 and Chromosome 16?

How many defective loci are present in α-thalassaemia major (Hb Bart)?

Which locus is responsible for the synthesis of a sequence of monomers on the surface of red blood cells?

What determines the ABO blood group?

What is the term for two alleles of the same gene, which code for proteins with different specific functions, being co-expressed in (compound) heterozygote individuals?

In codominance, what type of phenotype is produced when two alleles are co-expressed?

Which blood group exhibits codominance?

What is the basic genetics of haemoglobin biosynthesis?

What is the genetic mutation that leads to sickle cell anaemia?

How can sickle cell anaemia be diagnosed clinically?

Why do mutations that disrupt balanced globin production lead to thalassaemias?

Which locus is responsible for the synthesis of a sequence of monomers on the surface of red blood cells?

Which of the following is a possible consequence of a gain-of-function mutation?

Which type of mutation can lead to a frameshift?

What does the mutation G > A mean?

Which type of mutation can lead to a missense or nonsense mutation?

Which type of mutation can lead to a change in the splicing of mRNA?

Which type of mutation can lead to a change in the protein folding?

Which type of mutation can lead to a change in the number of tandem repeats?

Which type of mutation can lead to a decrease or loss of gene function?

Which type of mutation can lead to an increase in gene function?

Which type of mutation can lead to a change in the reading frame of the DNA sequence?

Which of the following best describes a silent mutation?

What category of mutation best describes the Glutamic acid > Valine mutation that converts HbA to HbS, with respect to O2 carrying function?

What is the risk associated with sickle cell anemia?

What is the purpose of prenatal diagnosis?

How can prenatal diagnosis for sickle cell disease be performed?

Is newborn screening for sickle cell disease available in Ireland?

What is the allele frequency of sickle cell gene in African Americans?

What is the incidence of sickle cell disease in African Americans?

What is the definition of evolution in population genetics?

What is the term for the occurrence of two or more discontinuous forms of a trait in a single population?

Which of the following best describes the concept of balanced polymorphism?

Which of the following is true about sickle cell trait?

What is the pattern of inheritance for sickle cell anemia?

What is the consequence of selection pressure for the maintenance of the heterozygous state in sickle cell disease?

Which of the following is true about thalassemias?

Which of the following is a common mutation associated with β-thalassemias?

What is the consequence of a large 5' deletion in the β-globin gene?

How would you perform prenatal diagnosis of β-thalassemia?

What is the consequence of α-thalassemia major (Hb Bart)?

What is the purpose of erythrocytes in relation to hemoglobin?

Which of the following correctly describes the concept of balanced polymorphism?

Which of the following statements about sickle cell trait (HbAS) is true?

What is the consequence of the selection pressure for the maintenance of the heterozygous state in sickle cell disease (HbSS)?

Which of the following best describes the pattern of inheritance for sickle cell anaemia (HbSS)?

What is the most likely reason for the abnormal shape of the face in individuals with β-thalassaemia?

Which of the following accurately describes the purpose of prenatal diagnosis for β-thalassaemia?

What is the consequence of a mutation in the HBB gene promoter position -34?

What is the consequence of a large 5' deletion in the β-globin gene?

How can prenatal diagnosis of β-thalassaemia be performed if the blood of the baby is not expressing β-globin to sufficient levels?

What is the purpose of the LCR (locus control region) in relation to β-globin genes?

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