Concept explainers
Spherocytosis is an inherited blood disease in which erythrocytes (red blood cells) are spherical instead of biconcave. This condition is inherited in a dominant fashion, with ANK1 (the nonfunctional mutant allele) dominant to ANK1+. In people with spherocytosis, the spleen recognizes the spherical red blood cells as defective and removes them from the bloodstream, leading to anemia; this removal occurs with different efficiency in different people.
Some people with spherical erythrocytes suffer severe anemia, some have mild anemia, and others do not have any symptoms of anemia.
When 2400 people with the genotype ANK1/ANK1+ were examined, it was found that all of them had spherical erythrocytes, 2250 had anemia of varying severity, and 150 had no anemia symptoms. The ANK1/ANK1 genotype is never observed.
Which evidence suggests that spherocytosis is incompletely penetrant?
Spherocytosis is a condition that affects red blood cells. People suffering from spherocytosis experience some diseases, which are as follows: -
- Anemia: - Shortage of RBCs in the blood.
- Jaundice: - Yellowing of the eyes and skin.
- Splenomegaly: - Enlarged spleen.
Step by stepSolved in 3 steps
- can two observably different cells have the same geno type, explain?arrow_forwardA female is homozygous for a dominant mutation of ACE2 which prevents binding of the spike protein from Covid-19. This woman marries a man that does not contain any mutation for ACE2. Considering the bar body, what would this mean for chances of their daughters being more protected from Covid-19 in the future. What about the sons? Select one: a. Each daughter would have a 50% chance of being essentially immune to Covid 19 due to mosaicism and inactivation of one X. If the X with the wild-type allele for ACE2 is suppressed as the bar body, the women would be more resistant to COVID-19, if the X with the mutant form is suppressed, the daughter have the normal reaction to COVID-19. Each son will be immune. b. Since the ACE2 receptor has nothing to do with the sex chromosomes, then each daughter will be heterozygous for the mutation and both the sons and daughters will be immune to COVID-19. c. Since females have two X's, each daughter will be twice as affected by COVID-19.arrow_forwardThe SIRT3 protein has been reported to increase the growth of certain types of cancer cells. Researchers studying the metabolism and development of stomach cancer cells investigated the potential role of the SIRT3 protein in these cells. In the first investigation, the researchers quantified the relative amount of SIRT3 in normal stomach cells and in each of four different lines of stomach cancer cells (Figure 1). Using data from a group of 100 patients with stomach cancer, the researchers also analyzed the relative amount of SIRT3 protein detected in samples of the cancer cells and in normal cells immediately adjacent to the cancer cells (Figure 2). Figure 1. SIRT3 protein levels in normal stomach cells (NS) and stomach cancer cell lines from four different patients (SC-1, SC-2, SC-3, SC-4), shown relative to the level in normal stomach cells (NS). Error bars represent ±SEx¯. Figure 2. The number of patients, from 100 tested, whose stomach cancer cells or normal stomach cells…arrow_forward
- For the cell line H9c2(2-1) which is a rat mycardium cell line, what disease was it derived from?arrow_forwardThe pedigree pictured is of an extended family where a large percentage of family members develop colon cancer at an early age. In this family, individuals either get colon cancer before the age of 16, or they don’t get it at all. a) Based on the information you have been given, what evidence, if any, suggests an inherited contribution to the development of this disease? b) You take a medical history of all 33 people in the pedigree and discover that a large percentage drink a special coffee on a daily basis, while others do not. The individuals who do not drink coffee are I-1, II-2, II-4, II-9, III-7, III-13, IV-1, and IV-3. Could drinking this special coffee play a role in colon cancer? Explain.arrow_forwardMany different alleles of a gene may exist in a population, yet each individual within the population does not carry more than two alleles of the gene. Is this true or false? A specific DNA mutation results in the production of a nonfunctional Chloride Ion Channel protein. The wildtype (normal) DNA sequence and the mutant DNA sequence that code for the Chloride Ion Channel protein, would they be considered different alleles of the same gene?arrow_forward
- The physical foundation of sickle cell disease is caused by a hemoglobin mutation that is prone to polymerization as a consequence of a surface-exposed valine residue on the hemoglobin molecule. if it is true or untruearrow_forwardA 30 - year - old woman was undergoing therapy for b-thalassemia,a recessive trait caused by absence of or reduced synthesis ofthe hemoglobin b chain, a subunit of the oxygen-carrying moleculein red blood cells. In this condition, red blood cells are rapidlydestroyed, freeing a large amount of iron, which is deposited in tissuesand organs. The blood transfusions the patient had received every twoor three weeks since the age of 7 to stave off anemia were furtheraggravating iron buildup. Her major organs were showing damage, andshe was in danger of death from cardiac disease. Her physician suggestedthat she consider undergoing a hematopoietic (bone marrow)stem cell transplant (HSCT). Since these stem cells give rise to redblood cells, such a transplant could potentially restore her health. Whilethis might seem like an easy decision, it is not. Advanced cases havea high risk (almost 30 percent) for transplantation-related death. At thispoint, the woman is faced with a difficult and…arrow_forwardHOW DO I SOLVE THIS STEP BY STEP: Recent studies suggest that having the A blood type increases the risk of serious complications for patients suffering from COVID-19. Sarah doesn't know her blood type, but she knows her father is type O and her mother is type AB. What is the probability, from 0 to 100 percent, that Sarah is blood type A? Enter a single whole number from 0 to 100. If you think the answer is a fraction, then round to the nearest whole number.arrow_forward
- Duchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene. Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1). The actual DMD mRNA is about 16,000 base-pairs!------Consider single nucleotide polymorphism (SNP) #1 (Figure 1). Is this mutation likely to cause Duchenne muscular…arrow_forwardCorticosteroids are powerful anti-inflammatory drugs that alter the transcription of many genes. Corticosteroids are anti-inflammatory drugs that are used to treat individuals with allergies, asthma, autoimmune diseases, or organ transplants. These compounds have a wide range of effects on leukocytes and on inflammatory cytokine production. One common use for corticosteroids is as an inhaled treatment for individuals with asthma. Interestingly, inhaled corticosteroids provide significant benefit to asthma patients with high numbers of eosinophils in their airways, but not to those patients with high numbers of neutrophils, but normal numbers of eosinophils. One reason for this finding may be that: Corticosteroids don’t inhibit IL-13 production in the airways Corticosteroids don’t inhibit release of IL-33 by airway epithelial cells Corticosteroids induce apoptosis of Treg cells Corticosteroids induce apoptosis of eosinophils Corticosteroids don’t work well as combination therapy with…arrow_forwardHow can a single nucleotide insertion in the beta globin gene generate a phenotypic change in the ability of the red blood cell to transport oxygen?arrow_forward
- Human Anatomy & Physiology (11th Edition)BiologyISBN:9780134580999Author:Elaine N. Marieb, Katja N. HoehnPublisher:PEARSONBiology 2eBiologyISBN:9781947172517Author:Matthew Douglas, Jung Choi, Mary Ann ClarkPublisher:OpenStaxAnatomy & PhysiologyBiologyISBN:9781259398629Author:McKinley, Michael P., O'loughlin, Valerie Dean, Bidle, Theresa StouterPublisher:Mcgraw Hill Education,
- Molecular Biology of the Cell (Sixth Edition)BiologyISBN:9780815344322Author:Bruce Alberts, Alexander D. Johnson, Julian Lewis, David Morgan, Martin Raff, Keith Roberts, Peter WalterPublisher:W. W. Norton & CompanyLaboratory Manual For Human Anatomy & PhysiologyBiologyISBN:9781260159363Author:Martin, Terry R., Prentice-craver, CynthiaPublisher:McGraw-Hill Publishing Co.Inquiry Into Life (16th Edition)BiologyISBN:9781260231700Author:Sylvia S. Mader, Michael WindelspechtPublisher:McGraw Hill Education