A 50-year-old man undergoes genetic testing for hemochromatosis, an autosomal recessive disease characterized by abnormally elevated serum iron levels leading to organ toxicity. He is positive for a genetic mutation and is diagnosed with the disease. However, he never develops signs of elevated serum iron levels or organ toxicity. Which of the following terms best describes this patient's disease? A Low penetrance B Low expressivity
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- Glioblastoma multiforme (GBM) is the most commonand aggressive form of brain cancer in humans.Without any treatment, the mean survival rate is aboutthree months. Even with standard treatments such assurgical resection, radiation, and chemotherapy, themean survival rate is between seven and 14 months.GBM tumors differ in their spectrum of geneticchanges, and these changes may influence the effectof particular treatments. Answer the following questions about the relevance of particular mutations toparticular treatments and outcomes.a. Biopsies of about 20% of GBMs show the expression of a certain mutational variant of the EGFR(epidermal growth factor receptor) protein calledEGFRvIII. The same cancerous cells of theseGBMs also show the expression of normal, wildtype EGFR. Is the gene encoding EGFR a tumorsuppressor gene or a proto-oncogene?b. It is very difficult to induce cells expressingEGFRvIII to undergo apoptosis. If you werea radiologist treating a patient with a GBMthat expresses…A man in his early 30s suddenly developed weakness in hishands and neck, followed weeks later by burning musclepain—all symptoms of late-onset muscular dystrophy. Hisinternist ordered genetic tests to determine whether he had oneof the most common adult-onset muscular dystrophies—myotonicdystrophy type 1 (DM1) or myotonic dystrophy type 2 (DM2). Thetests detect mutations in the DMPK and CNBP genes, the onlygenes known to be associated with DM1 and DM2. While awaitingthe results of the gene tests, the internist explained that thedisease-causing mutations in these genes do not result in changesto the coding sequence. Rather, myotonic dystrophies resultfrom increased, or expanded, numbers of tri- and tetranucleotiderepeats in the 3 untranslated region of the DMPK or CNBP genes.The doctor went on to explain that the presence of RNAs withexpanded numbers of repeats leads to aberrant alternative splicingof other mRNAs, causing widespread disruption of cellular pathways.This discussion…A man in his early 30s suddenly developed weakness in hishands and neck, followed weeks later by burning musclepain—all symptoms of late-onset muscular dystrophy. Hisinternist ordered genetic tests to determine whether he had oneof the most common adult-onset muscular dystrophies—myotonicdystrophy type 1 (DM1) or myotonic dystrophy type 2 (DM2). Thetests detect mutations in the DMPK and CNBP genes, the onlygenes known to be associated with DM1 and DM2. While awaitingthe results of the gene tests, the internist explained that thedisease-causing mutations in these genes do not result in changesto the coding sequence. Rather, myotonic dystrophies resultfrom increased, or expanded, numbers of tri- and tetranucleotiderepeats in the 3 untranslated region of the DMPK or CNBP genes.The doctor went on to explain that the presence of RNAs withexpanded numbers of repeats leads to aberrant alternative splicingof other mRNAs, causing widespread disruption of cellular pathways.This discussion…
- A man in his early 30s suddenly developed weakness in hishands and neck, followed weeks later by burning musclepain—all symptoms of late-onset muscular dystrophy. Hisinternist ordered genetic tests to determine whether he had oneof the most common adult-onset muscular dystrophies—myotonicdystrophy type 1 (DM1) or myotonic dystrophy type 2 (DM2). Thetests detect mutations in the DMPK and CNBP genes, the onlygenes known to be associated with DM1 and DM2. While awaitingthe results of the gene tests, the internist explained that thedisease-causing mutations in these genes do not result in changesto the coding sequence. Rather, myotonic dystrophies resultfrom increased, or expanded, numbers of tri- and tetranucleotiderepeats in the 3 untranslated region of the DMPK or CNBP genes.The doctor went on to explain that the presence of RNAs withexpanded numbers of repeats leads to aberrant alternative splicingof other mRNAs, causing widespread disruption of cellular pathways.This discussion…Silent mutations that occur in DNA are quite common in living cells and usually involve no effects onphenotype. In not more than 2 pages (using 1.5 line space of Arial or Times New Roman fonts) provideanswers for the following questions? Provide one example of a clinical implication of a “silent mutation” that proven to have an effect onthe phenotype and provide a brief description of its molecular characteristics?True or False: An individual with sickle-cell anemia is caused by a missense mutation.
- Below is a figure (here called Figure 1) from “Prognostic Significance of CpG Island Methylator Phenotype and Microsatellite Instability in Gastric Carcinoma,” by An et al., published in Clinical Cancer Research in 2005. The authors look at five microsatellite loci (BAT 25, BAT 26, D2S123, D5S346, and D17S250) in normal (N) and tumor (T) tissue from patients with Gastric Carcinoma. They amplify the loci by PCR and then instead of using standard agarose gel electrophoresis, they run the PCR products through capillary gel electrophoresis and detect bands as they pass a laser near the positive charge terminal. The x-axis in these plots is the time at which the band passed the laser (aka size of the PCR product) and the intensity of the peaks represents the amount of DNA in that band A. Which patient- 18, 30, or 1- shows the most microsatellite instability? Which patient shows the least? How do you know? B. In which repair pathway is it most likely that you will find the driver mutations…. Mutations in an autosomal gene in humans cause aform of hemophilia called von Willebrand disease(vWD). This gene specifies a blood plasma proteincleverly called von Willebrand factor (vWF). vWFstabilizes factor VIII, a blood plasma protein specified by the wild-type hemophilia A gene. Factor VIIIis needed to form blood clots. Thus, factor VIII is rapidly destroyed in the absence of vWF.Which of the following might successfully be employed in the treatment of bleeding episodes in hemophiliac patients? Would the treatments workimmediately or only after some delay needed forprotein synthesis? Would the treatments have only ashort-term or a prolonged effect? Assume that allmutations are null (that is, the mutations result in thecomplete absence of the protein encoded by the gene)and that the plasma is cell-free.a. transfusion of plasma from normal blood into avWD patientb. transfusion of plasma from a vWD patient into adifferent vWD patientc. transfusion of plasma from a hemophilia A…A female patient 19 years old, whose symptoms areanemia and internal bleeding due to a massive buildupof leukemic white blood cells, is diagnosed withchronic myelogenous leukemia (CML). Karyotypeanalysis shows that the leukemic cells of this patientare heterozygous for a reciprocal translocation involving chromosomes 9 and 22. However, none of thenormal, nonleukemic cells of this patient contain thetranslocation. Which of the following statements istrue and which is false?a. The translocation results in the inactivation (loss offunction) of a tumor-suppressor gene.b. The translocation results in the inactivation (loss offunction) of an oncogene.c. There is a 50% chance that any child of this patientwill have CML.d. This patient is a somatic mosaic in terms of thekaryotype.e. DNA extracted from leukemic cells of this patient,if taken up by normal mouse tissue culture cells,could potentially transform the mouse cells intocells capable of causing tumors.f. The normal function of the…
- Diamond–Blackfan anemia (DBA) is a rare, dominantgenetic disorder characterized by bone marrow malfunction,birth defects, and a predisposition to certaincancers. Infants with DBA usually develop anemia in the firstyear of life, have lower than normal production of red blood cellsin their bone marrow, and have a high risk of developing leukemiaand bone cancer. At the molecular level, DBA is causedby mutations in any one of 10 genes that encode ribosomalproteins. The first-line therapy for DBA is steroid treatment,but more than half of affected children develop resistance tothe drugs and in these cases, treatment is halted. DBA can betreated successfully with bone marrow or stem cell transplantsfrom donors with closely matching immune system markers.Transplants from unrelated donors have significant levels ofcomplications and mortality. While a stem cell transplant from an unaffected donor is currentlythe only cure for DBA, genome-editing technologies mayone day enable the correction of…Diamond–Blackfan anemia (DBA) is a rare, dominantgenetic disorder characterized by bone marrow malfunction,birth defects, and a predisposition to certaincancers. Infants with DBA usually develop anemia in the firstyear of life, have lower than normal production of red blood cellsin their bone marrow, and have a high risk of developing leukemiaand bone cancer. At the molecular level, DBA is causedby mutations in any one of 10 genes that encode ribosomalproteins. The first-line therapy for DBA is steroid treatment,but more than half of affected children develop resistance tothe drugs and in these cases, treatment is halted. DBA can betreated successfully with bone marrow or stem cell transplantsfrom donors with closely matching immune system markers.Transplants from unrelated donors have significant levels ofcomplications and mortality. Given that a faulty ribosomal protein is the culprit and causesDBA, discuss the possible role of normal ribosomal proteins.Why might bone marrow cells be…define the term name as Missense mutations