Concept explainers
To review:
Whether the following examples are description of genetics at the molecular, cellular, organism or population level.
A. The HbS allele encodes a polypeptide that functions slightly differently from the polypeptide encoded by the HbA allele.
B. If an individual has two copies of the Hbs allele, that person’s red blood cells take on a sickle shape.
C. Individuals who have two copies of the HbA allele do not have sickle cell disease, but they are not resistant to malaria. People who have one HbA allele and one HbS allele do not have sickle cell disease and are resistant to malaria. People who have two copies of the HbS allele have sickle cell disease and this disease may significantly shorten their lives.
D. Individuals with sickle cell disease have anemia because their red blood cells are destroyed by the body.
Introduction:
The blood disease called sickle cell anemia is a heritable disease. The affected individuals do not have enough oxygen-carrying hemoglobin in their blood, which causes the red blood cells (RBCs) to shrink and acquire a sickle shape. This happens due to the defective β–globin gene.
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Chapter 1 Solutions
Genetics: Analysis and Principles
- α-thalassemia is another blood disorder in which abnormal hemoglobin molecules are formed, leading to anemia. One mutant allele known to cause α-thalassemia occurs in α-hemoglobin and is called Constant Spring. Normal α-hemoglobin is 141 amino acids long, while the Constant Spring protein is 172 amino acids long. Include answers to both A and B in your response. A maximum of 2 sentences per part. A) Explain how a frameshift mutation in the coding region of α-hemoglobin could result in the Constant Spring protein. B) Explain how a single base-substitution mutation in the coding region of α-hemoglobin could result in the Constant Spring protein.arrow_forwardWhich of the following best explains how individuals who inherit phenylketonuria alleles can avoid the symptoms of this disease (mental impairment, foul smelling urine)? It exhibits variable expressivity. The expression of this disease depends on the environment. If the individual removes phenylalanine from their diet they can avoid the disease entirely. PKU alleles are epistatic to alleles of another gene, which acts downstream in phenylalanine metabolism. These individuals supplement their diets with enzymes that break-down phenylalanine.arrow_forwardAn experimental assay for the blood-clotting protein called factorIX is available. A blood sample was obtained from each individual in the following pedigree. The amount of factor IX protein, shown within each symbol on the pedigree, is expressed as a percentage of the average amount observed in individuals who do not carry a mutant copy of the gene.arrow_forward
- A human gene called the β-globin gene encodes a polypeptidethat functions as a subunit of the protein known as hemoglobin.Hemoglobin is found within red blood cells; it carries oxygen. Inhuman populations, the β-globin gene can be found as the common allele called the HbAallele, and it can also be found as theHbSallele. Individuals who have two copies of the HbSallele havethe disease called sickle cell disease. Are the following examplesdescriptions of genetics at the molecular, cellular, organism, orpopulation level?A. The HbSallele encodes a polypeptide that functions slightlydifferently from the polypeptide encoded by the HbAallele.B. If an individual has two copies of the HbSallele, that person’sred blood cells take on a sickle shape.C. Individuals who have two copies of the HbAallele do nothave sickle cell disease, but they are not resistant to malaria.People who have one HbAallele and one HbSallele do not havesickle cell disease, and they are resistant to malaria. People whohave…arrow_forwardIn humans, four different blood types (A, B, AB, and O) are encoded by three alleles 1, 1, and i Individuals with both I and I alleles have blood type AB (red blood cells with both A and B antigens). Two copies of the i allele are required for an individual to have blood type O (red blood cells with no antigens). Which of the following correctly indicates the relationship between the I and / alleles for the blood type gene? Select one: OA. I is dominant to / OB. I is recessive to i OC. I and I are co-dominant OD. I and/exemplify incomplete dominancearrow_forwardThe gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above to answer the following question: Using the left-hand menu to view the sequence for IGLL1, what are the last 12 nucleic acid bases of exon 1?arrow_forward
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- The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above and click, 'show transcript table', to answer the following question: What is the size in base pairs of the IGLL1 transcript named IGLL-202?arrow_forwardThe HbβS(sickle-cell) allele of the human β-globingene changes the sixth amino acid in the β-globinchain from glutamic acid to valine. In HbβC, the sixthamino acid in β-globin is changed from glutamic acidto lysine. What would be the order of these two mutations within the map of the β-globin gene?arrow_forwardIn the species Polyfarius obscescens, one gene controls lipid storage. Individuals with the dominant F allele are fat, and individuals homozygous for the f allele are not. Transgenic individuals that contain the GFP gene (which produces green fluorescent protein) have also been created. A geneticist has mated a P0 generation green and fat individual with another individual that is neither green nor fat. Using appropriate genetic nomenclature, list all of the possible genotypes of both parents.arrow_forward
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