Podcast
Questions and Answers
Which of the following genotypes represents the blood group AB?
Which of the following genotypes represents the blood group AB?
- AO
- AA
- BB
- AB (correct)
What is the function of hemoglobin?
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)?
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?
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 purpose of erythrocytes in relation to hemoglobin?
What is the consequence of sickle cell disease under conditions of low oxygen tension?
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 genotype for sickle cell trait?
What is the most common genetic disorder of hemoglobin?
What is the most common genetic disorder of hemoglobin?
What is the consequence of β-thalassemia?
What is the consequence of β-thalassemia?
What is the consequence of α-thalassemia?
What is the consequence of α-thalassemia?
Which chromosome is the β-globin gene located on?
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 minor (β-thal trait)?
What is the genotype of a person with β-thalassaemia major?
What is the genotype of a person with β-thalassaemia major?
How many α-globin genes are there on Chromosome 16?
How many α-globin genes are there on Chromosome 16?
What is the genotype of a person with α-thalassaemia trait?
What is the genotype of a person with α-thalassaemia trait?
What is the most common form of severe α-thalassaemia?
What is the most common form of severe α-thalassaemia?
What is the purpose of the LCR in relation to β-globin genes?
What is the purpose of the LCR in relation to β-globin genes?
What can haemoglobin electrophoresis be used to identify?
What can haemoglobin electrophoresis be used to identify?
What is the direction of expression of Hb genes on Chromosome 11 and Chromosome 16?
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)?
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?
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 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?
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?
In codominance, what type of phenotype is produced when two alleles are co-expressed?
Which blood group exhibits codominance?
Which blood group exhibits codominance?
What is the basic genetics of haemoglobin biosynthesis?
What is the basic genetics of haemoglobin biosynthesis?
What is the genetic mutation that leads to sickle cell anaemia?
What is the genetic mutation that leads to sickle cell anaemia?
How can sickle cell anaemia be diagnosed clinically?
How can sickle cell anaemia be diagnosed clinically?
Why do mutations that disrupt balanced globin production lead to thalassaemias?
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 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 of the following is a possible consequence of a gain-of-function mutation?
Which type of mutation can lead to a frameshift?
Which type of mutation can lead to a frameshift?
What does the mutation G > A mean?
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 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 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 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 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 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 an increase in gene function?
Which type of mutation can lead to a change in the reading frame of the DNA sequence?
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?
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 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 risk associated with sickle cell anemia?
What is the purpose of prenatal diagnosis?
What is the purpose of prenatal diagnosis?
How can prenatal diagnosis for sickle cell disease be performed?
How can prenatal diagnosis for sickle cell disease be performed?
Is newborn screening for sickle cell disease available in Ireland?
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 allele frequency of sickle cell gene in African Americans?
What is the incidence of sickle cell disease 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 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?
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 best describes the concept of balanced polymorphism?
Which of the following is true about sickle cell trait?
Which of the following is true about sickle cell trait?
What is the pattern of inheritance for sickle cell anemia?
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?
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 true about thalassemias?
Which of the following is a common mutation associated with β-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?
What is the consequence of a large 5' deletion in the β-globin gene?
How would you perform prenatal diagnosis of β-thalassemia?
How would you perform prenatal diagnosis of β-thalassemia?
What is the consequence of α-thalassemia major (Hb Bart)?
What is the consequence of α-thalassemia major (Hb Bart)?
What is the purpose of erythrocytes in relation to hemoglobin?
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 correctly describes the concept of balanced polymorphism?
Which of the following statements about sickle cell trait (HbAS) is true?
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)?
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)?
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?
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?
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 mutation in the HBB gene promoter position -34?
What is the consequence of a large 5' deletion in the β-globin gene?
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?
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?
What is the purpose of the LCR (locus control region) in relation to β-globin genes?
