Cystic fibrosis is a life-threatening disease that causes thick, sticky mucus to build up in areas of the body, including the lungs. Scientists are studying CFTR, the geneassociated with cystic fibrosis in humans. In the majority of cystic fibrosis patients, the same mutation is seen in the same location on the CFTR geně.A partial DNA sequence, a partial MRNA transcript, and part of the normal polypetide that the makes up the CFTR protein that the CFTR gene codes for are shown inthe diagram below.DNA 3MRNA 5AUCPolypeptideA partial DNA sequence, a partial MRNA transcript, and part of the CFTR polypeptide in a cystic fibrosis patient are shown in the diagram below.DNA 3CACAAMRNA 5PolypeptideGlyA Describe the change in the DNA sequence, the effect on the MRNA, and the effect on the polypeptide.B. Is this a "true" frameshift mutation? Why or why not?C. Would a single base insertion at the beginning of the gene have a larger or smaller effect on the resulting polypeptide than the CFTR mutation?answer.uno

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Description: Cystic fibrosis is a life-threatening disease that causes thick, sticky mucus to build up in areas of the body, including the lungs. Scientists are studying CFTR, the geneassociated with cystic fibrosis in humans. In the majority of cystic fibrosis

Cystic fibrosis is a disesase that damage the cell producing mucus, sweat and other juices. in…

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A partial DNA sequence, a partial MRNA transcript, and part of the CFTR polypeptide in a cystic fibrosis patient are shown in the diagram below. DNA 3 TAACCAČ MRNA 5 Polypeptide A Describe the change in the DNA sequence, the effect on the MRNA, and the effect on the polypeptide. B. Is this a "true" frameshift mutation? Why or why not? C. Would a single base insertion at the beginning of the gene have a larger or smaller effect on the resulting polypeptide than the CFTR mutation? answer. our

A partial DNA sequence, a partial MRNA transcript, and part of the CFTR polypeptide in a cystic fibrosis patient are shown in the diagram below. DNA 3 TAACCAČ MRNA 5 Polypeptide A Describe the change in the DNA sequence, the effect on the MRNA, and the effect on the polypeptide. B. Is this a "true" frameshift mutation? Why or why not? C. Would a single base insertion at the beginning of the gene have a larger or smaller effect on the resulting polypeptide than the CFTR mutation? answer. our

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter9: Gene Expression And Gene Regulation

Section: Chapter Questions

Problem 10QP: The pre-mRNA transcript and protein made by several mutant genes were examined. The results are...

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1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). Please EXCLUDE the use of CRISPR from consideration. A. Will you use germline or somatic cell gene therapy? Please NAME and DEFINE the form of gene therapy selected, then explain WHY this is the most appropriate choice.
BRCA1 is mutated in a large percentage of hereditary breast and ovarian cancers. BRCA1 protein serves as a key enzyme in repairing DNA double-strand breaks. More than 800 mutations in the BRCA1 are clinically significant. This collection of mutations include missense mutations, small deletions, and large rearrangements that result in a protein with reduced function or no protein product. BRCA1 functions by interacting with a variety of proteins, such as Rb, Myc, cyclin-dependent kinase (CDK), and Rad50/51. Rb is important for cell cycle arrest; Myc is a transcription factor that activates genes required for cell proliferation; activated CDK promotes cell cycle progression; and Rad50/51 proteins facilitate repair of DNA double-strand breaks. How many of the mutations listed below would lead to excessive cell growth when the cell was either homozygous or heterozygous for the mutation? Increased expression of Myc Constitutively active Rad50/51 A null mutation in Rb Continuous production…
1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). a) Hypothetically, what specific type of VECTOR will you use to perform your gene therapy? Please select from the following list of potential vectors: disabled retrovirus, adenovirus, adeno-associated virus (AAV), or herpes simplex virus (HSV), then give two reasons why this specific vector is the most appropriate for your gene therapy. Please explain why you were able to rule out the other potential…
1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). Other scientists have suggested that it might be possible to use CRISPR to treat this genetic disorder in affected individuals. (i) First, what is CRISPR? (BRIEFLY describe what it is and how it works). (ii) Briefly describe how CRISPR could be utilized in treating genetic conditions such as Batten disease.
Dystrophin is a protein that forms part of a vital protein complex that connects the cytoskeleton of a muscle fiber cell to the extracellular matrix. This connection strengthens and shapes the muscle fibers. Dystrophin is coded by the DMD gene. This is one of the longest human genes known, covering 2,300,000 base pairs (0.08% of the human genome) It is located in chromosome 21. The immature mRNA is 2,100,000 bases long and takes 16 hours to transcribe. It contains 79 exons. The mature mRNA measures 14,000 and codes for a protein with 3,685 amino acids. Abnormal expression of dystrophin leads to severe symptoms like muscle weakness and fatigability, a disease that is called muscular dystrophy. Most patients with muscular dystrophy become wheelchair dependent early in life. Cardiac muscle is also affected which results typically in premature death (~ second or third decade of life). Several mutations in this gene have led to the production of low levels of dystrophin or of a defective,…
There are dozens of common variations of the c-myc gene, which are associated with different types of cancer. Here are 3 variations of part of a sequence of the c-myc gene, located between nucleotides 180 and 201. The original sequence is given to you, as well as the sequences of 3 variations. The mutated nucleotide of each variation is annotated in gray. Use this information (picture) to answer the next two (2) questions 1. Which of the c-myc variations is least likely to cause a change in c-myc function?2. Which variation of c-myc produces a nonsense mutation?
Retinoblastoma is an extremely rare cancer of the retina in the eye. The disease mainly affects children up to the age of 5 years because it can only occur while the nerve precursor cells are still dividing. In its nonhereditary form, a tumor usually occurs in only one eye; in its hereditary form, multiple tumors develop in both eyes.To explore the basis for these differences, a cDNA clone of the Rb gene was used to probe the structure of the gene in cells from normal individuals and from individuals with nonhereditary or hereditary retinoblastoma. As shown in the figure Part A, normal individuals have four restriction fragments (A, B, C, and D) that hybridize to the Rb cDNA probe, indicating that each restriction fragment encodes at least one Rb exon. Samples from fibroblasts and tumor cells of affected persons show some differences in the patterns of hybridization, with some bands missing entirely and some bands present at half intensity. The order of the restriction fragments in the…
Metabolic syndrome is a genetic disorder with symptoms of hypertension, elevated blood cholesterol concentrations, and lower-than-normal blood magnesium concentrations. This syndrome is caused by a mutation in mitochondrial DNA (mtDNA) in which a thymine nucleotide is replaced by a cytosine nucleotide. Which of the following identifies the mutated mtDNA and the corresponding mRNA and tRNA produced in a person with metabolic syndrome if the normal mtDNA triplet is TCG? Select one: a. Mutated mtDNA: CCG mRNA: GGC tRNA: GGC b. Mutated mtDNA: TCG mRNA: UGC tRNA: ACG c. Mutated mtDNA: CCG mRNA: GGC tRNA: CCG d. Mutated mtDNA: TTG mRNA: AAC tRNA: UUC
Like Hurler syndrome, Fabry disease involves an abnormal accumulationof substances within lysosomes. However, the lysosomes of individuals with Fabry disease show an abnormal accumulation of lipids. The defective enzyme is α-galactosidase A, which is a lysosomal enzyme that functions in lipid metabolism. The defect causes cell damage, especially to the kidneys, heart, and eyes. The gene that encodes α-galactosidase A is found on the X chromosome. Let’s suppose a phenotypically unaffected couple producestwo sons with Fabry disease and one phenotypically unaffecteddaughter. What is the probability that the daughter will have anaffected son?
Hemophilia in the Russian royal family was caused by defective protein involved in blood clotting (factor IX). This defective protein was caused by a mutation that altered the splicing of the exons. This genetic change in the splicing pattern created a new stop codon in the mRNA for factor IX. What effect might this new stop codon have on the primary and tertiary levels of the mutant factor IX protein (compared to the native or wild-type protein).
A couple with a child affected with DBA undergoes in vitro fertilization (IVF) and genetic testing of the resulting embryos to ensure that the embryos will not have DBA. However, they also want the embryos screened to ensure that the one implanted can serve as a suitable donor for their existing child. Their plan is to have stem cells from the umbilical cord of the new baby transplanted to their existing child with DBA, thereby curing the condition. What are the ethical pros and cons of this situation?
B-thalassemia is a hereditary blood disorder that leads to the formation of an abnormal hemoglobin which destroys red blood cells and causes anemia. Which of the following statements about patients with B-thalassemia is correct? 1. They express a longer version of the B-globin mRNA. 2. They have some intronic sequences in their B-globin mRNA. 3. They express a premature stop codon in their B-globin MRNA. 4. They express a longer version of the B-globin protein. A. 1, 2 and 3 O B. 1 and 3 O C. 2 and 4 OD. 4 only E. All of 1, 2, 3 and 4 are correct.