Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 4, Problem 28QP
Variations in
Explain how camptodactyly is an example of expressivity.
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In rare instances, B cells can be found that have two immunoglobulin light chain alleles, both of which are rearranged in frame, and can encode functional light chain proteins. Yet, on the surface of the B cell, only one of the two light chain proteins is detected in the membrane-bound immunoglobulin receptor. The reason these rare cells have two functional light chain rearrangements but only express one of the two light chains as part of the B-cell receptor is:
One of the two light chains is formed from rearrangement of a V gene segment that is a pseudogene.
One of the two light chain proteins doesn’t form a stable complex with the heavy chain expressed in this cell.
One of the two light chain alleles is not transcribed efficiently, and produces only low levels of protein.
One of the two light chain alleles uses a V gene segment that is not targeted very often by the RAG recombinase.
One of the two light chains is rapidly degraded after synthesis due to improper folding.
1)
using at least one named example discuss the implication of allelic heterogeneity in single gene disorder for the presentation and progession of the disorder and its treatment
2)
discuss the importance of understanding epigenetics in improving people health
Hurler syndrome is due to a mutation in a gene that encodes aprotein called α-l-iduronidase. This protein functions withinlysosomes as an enzyme that breaks down mucopolysaccharides(a type of polysaccharide that has many acidic groups attached).When this enzyme is defective, excessive amounts of the mucopolysaccharides dermatan sulfate and heparin sulfate accumulatewithin the lysosomes, especially in liver cells and connectivetissue cells. This accumulation leads to symptoms such as anenlarged liver and spleen, bone abnormalities, corneal clouding,heart problems, and severe neurological problems. The pedigreebelow contains three members affected with Hurler syndrome,indicated with black symbols. Based on this pedigree, does thissyndrome appear to follow autosomal recessive, autosomaldominant, X-linked recessive, or X-linked dominant inheritance?Explain your reasoning.
Chapter 4 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 4.3 - Does a pedigree drawn from the available...Ch. 4.3 - Prob. 2EGCh. 4.7 - Did the fact that Prince Albert and Queen Victoria...Ch. 4.7 - Which members of the pedigree could have been...Ch. 4 - Pedigree analysis is a fundamental tool for...Ch. 4 - Pedigree analysis is a fundamental tool for...Ch. 4 - Pedigree analysis is a fundamental tool for...Ch. 4 - Pedigree Analysis Is a Basic Method in Human...Ch. 4 - Pedigree Analysis Is a Basic Method in Human...Ch. 4 - Pedigree Analysis Is a Basic Method in Human...
Ch. 4 - Pedigree Analysis Is a Basic Method in Human...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Use the following information to respond to the...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - A proband female with an unidentified disease...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Prob. 12QPCh. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Prob. 16QPCh. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Prob. 23QPCh. 4 - Prob. 24QPCh. 4 - Variations in Phenotype Expression Define...Ch. 4 - Prob. 26QPCh. 4 - Variations in Phenotype Expression A genetic...Ch. 4 - Variations in Phenotype Expression Explain how...
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- Alpha-1 antitrypsin has codominant inheritance. M genes express normal levels. S and Z genes have low expression. Which of the following is most likely to develop emphyema? A person with: 1) two M genes who does smoke 2) two S genes who does smoke 3) one M and one S gene who does not smoke 4) one M gene and one S gene who does smoke 5) two M genes who does not smoke 6) two S genes who does not smokearrow_forwardExplain how a loss-of-function allele in a gene encoding a cohesin protein could be dominant to itswild-type counterpart.arrow_forwardWhat is meant by the differential activation of genes? Explain how this affects the synthesis of cutin and P-protein.arrow_forward
- Lewis Blood Group System is a human blood group unlike most others. The antigen is produced and secreted by exocrine glands, eventually adsorbing to the surface of red blood cells. Its expression is based on the genetic expression of the Lewis and Secretor genes. Based on the following genotype (Le) (sese), what would you predict the Lewis antigen phenotypic expression to be?arrow_forwardPhenotypes can be controlled by many processes besides the actual genotype present. Explain one example of epigenetics that can control phenotype expressionarrow_forward© Macmillan Learning The coronavirus pandemic that first emerged in 2019 resulted in a large number of people contracting the COVID-19 disease caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although a large percentage of those infected experienced only mild symptoms, a significant percentage of individuals without complicating health conditions fell seriously ill or died. Suppose researchers hypothesize that a phenomenon called "cytokine storm" may contribute to having a more severe illness from COVID-19 disease. Cytokines normally direct the immune system to sites of infection in the body and increase inflammation. However, in cytokine storm, excessive cytokines and inflammation leads to hyperinflammation that can cause damage to the tissues. The researchers propose that otherwise healthy patients who have a severe reaction to COVID-19 infection may be experiencing cytokine storm. The researchers analyze qPCR data from confirmed COVID-19 patients with mild…arrow_forward
- When the expression of alleles are affected by the presence of other genes,such as sickle cell trait carriers that experience symptoms, this is calledarrow_forwardUsing coat color in mice and the development of female honeybees as examples, explain how dietary factors cause epigenetic modifications and thereby lead to phenotypic effects.arrow_forwardTroponin is a complex composed of Troponin C (TnC), Troponin I (TnI), and Troponin T (TnT); the complex is found in skeletal and cardiac muscle, but not smooth muscle. Two "isoforms" of TnI and two "isoforms" of TnT are expressed in human skeletal muscle tissue. Q:The isoforms of TnI in the sentence above mean: A:One single TnI gene encodes two different TnI proteins as a result of alternative splicing of the TnI pre-mRNA. B:There are two different TnI genes, each produces a TnI protein.arrow_forward
- Does blood type influence COVID-19 symptoms? Research regarding variable presentations of COVID-19 continues rapidly. Some of this new research hypothesizes blood type influences. Initial Post Read ABO Blood Types and COVID-19: Spurious, Anecdotal, or Truly Important Relationships? A Reasoned Review of Available Data. Focus on the general concepts, as opposed to understanding every word. After completing the reading, answer the following question for your initial post: “How does blood type influence symptom variations in people exposed to COVID-19?” Use the assigned article, with appropriate APA citations, to support your position.arrow_forwardVariable addition and subtraction of nucleotides at the junctions between gene segments contributes to the diversity of [Qi] the third hypervariable region. The addition and subtraction of nucleotides at the junctions between V, D, and J gene segments creates antibody proteins with wide variations in the numbers of amino acids in their CDR3 regions. This variability in CDR3 length is important as: Overall variability in CDR3 sequence is needed to create a sufficiently diverse antibody repertoire. The CDR3 region is more important in binding antigen than the CDR1 and CDR2 regions are. Some light chains bind better to heavy chains with longer CDR3 region sequences. Longer CDR3 sequences generally create antibodies with higher affinity for the antigen. Some antibodies bind relatively flat surfaces and others bind deep clefts in the antigen.arrow_forwardBriefly explain the regulatory interactions between these three classes of patterning genes (gap, pair rule, segment polarity). What is the temporal order of action and how do the different classes of genes regulate each other?arrow_forward
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