Dyskeratosis congenita (DKC) is a rare human genetic disorderaffecting telomere replication. Mutations in thegenes encoding the protein or RNA subunits of telomeraseresult in very short telomeres. DKC symptoms include bonemarrow failure (reduced production of blood cells) and anemia.If symptoms are severe, a bone marrow transplant may be theonly form of effective treatment. In one case, clinicians recommendedthat a 27-year-old woman with a dominant form of DKCundergo a bone marrow transplant to treat the disorder. Her foursiblings were tested, and her 13-year-old brother was identifiedas the best immunologically matched donor. However, beforebeing tested, he was emphatic that he did not want to knowif he had DKC. During testing, it was discovered that he hadunusually short telomeres and would most likely develop symptomsof DKC. Although the brother is an immunologically matched donor for his sister, it would be unethical for the clinicians to transplant bone marrow from the brother to the sister. Why?

Dyskeratosis congenita (DKC) is a rare human genetic disorderaffecting telomere replication. Mutations in thegenes encoding the protein or RNA subunits of telomeraseresult in very short telomeres. DKC symptoms include bonemarrow failure (reduced production of blood cells) and anemia.If symptoms are severe, a bone marrow transplant may be theonly form of effective treatment. In one case, clinicians recommendedthat a 27-year-old woman with a dominant form of DKCundergo a bone marrow transplant to treat the disorder. Her foursiblings were tested, and her 13-year-old brother was identifiedas the best immunologically matched donor. However, beforebeing tested, he was emphatic that he did not want to knowif he had DKC. During testing, it was discovered that he hadunusually short telomeres and would most likely develop symptomsof DKC. Although the brother is an immunologically matched donor for his sister, it would be unethical for the clinicians to transplant bone marrow from the brother to the sister. Why?

Name: Dyskeratosis congenita (DKC) is a rare human genetic disorderaffecting
Uploaded: 2024-03-20T06:42:55.000Z
Channel: Bartleby
Description: Dyskeratosis congenita (DKC) is a rare human genetic disorderaffecting telomere replication. Mutations in thegenes encoding the protein or RNA subunits of telomeraseresult in very short telomeres. DKC symptoms include bonemarrow failure (reduced prod

Curren'S Math For Meds: Dosages & Sol

11th Edition

ISBN:9781305143531

Author:CURREN

Publisher:CURREN

Chapter16: Adult And Pediatric Dosages Based On Body Surface Area

Section: Chapter Questions

Problem 17SST

See similar textbooks

Similar questions

Dyskeratosis congenita (DKC) is a rare human genetic disorderaffecting telomere replication. Mutations in the genesencoding the protein or RNA subunits of telomerase resultin very short telomeres. DKC symptoms include bone marrow failure(reduced production of blood cells) and anemia. If symptoms aresevere, a bone marrow transplant may be the only form of effectivetreatment. In one case, clinicians recommended that a 27-yearoldwoman with a dominant form of DKC undergo a bone marrowtransplant to treat the disorder. Her four siblings were tested, andher 13-year-old brother was identified as the best immunologicallymatched donor. However, before being tested, he was emphaticthat he did not want to know if he had DKC. During testing, it wasdiscovered that he had unusually short telomeres and would mostlikely develop symptoms of DKC. Although the brother is an immunologically matched donor forhis sister, it would be unethical for the clinicians to transplantbone marrow from the brother to…
Although most cases of cystic fibrosis are inherited in an autosomal recessive manner, it possible that cystic fibrosis can arise spontaneously in some patients. Determine whether each of the scenarios below is most consistent with inherited or spontaneous CFTR mutations. Errors in CFTR were introduced in [ Choose ] replication. [ Choose ] Both parents carry the same mutation. Spontaneous mutation Inherited mutation Not every cell of the patient has the [ Choose ] mutation. One parent has two normal copies of [ Choose ] CFTR. Cousins also have the same CFTR [ Choose ] mutation. > >
Dyskeratosis congenita (DKC) is a rare human genetic disorderaffecting telomere replication. Mutations in the genesencoding the protein or RNA subunits of telomerase resultin very short telomeres. DKC symptoms include bone marrow failure(reduced production of blood cells) and anemia. If symptoms aresevere, a bone marrow transplant may be the only form of effectivetreatment. In one case, clinicians recommended that a 27-yearoldwoman with a dominant form of DKC undergo a bone marrowtransplant to treat the disorder. Her four siblings were tested, andher 13-year-old brother was identified as the best immunologicallymatched donor. However, before being tested, he was emphaticthat he did not want to know if he had DKC. During testing, it wasdiscovered that he had unusually short telomeres and would mostlikely develop symptoms of DKC. Why might mutations in genes encoding telomerase subunitslead to bone marrow failure?
Some people have a genetic predisposition for developing priondiseases. Examples are described in Table 25.6. In the case ofGerstmann-Straüssler-Scheinker disease, the age of onset istypically 30–50 years, and the duration of the disease (whichleads to death) is about 5 years. Suggest a possible explanationwhy someone can live for a relatively long time withoutsymptoms and then succumb to the disease in a relativelyshort time.
The family of a sixth-grade boy in Palo Alto, California, wasinformed by school administrators that he would have to transferout of his middle school because they believed his mutation ofthe CFTR gene, which does not produce any symptoms associatedwith cystic fibrosis, posed a risk to other students at the schoolwho have cystic fibrosis. After missing 11 days of school, a settlementwas reached to have the boy return to school. What ethicalproblems might you associate with this example?
Ultraviolet light causes thymine dimers to form in DNA. Some individuals are genetically incapable of repairing these dimers at "normal" rates. Such individuals are likely to suffer from Oxeroderma pigmentosum phenylketonuria muscular dystrophy Severe Combined Immunodeficiency (SCID) pancreatic cancer
Scenario 1: Dyskeratosis congenita (DKC) is a rare human genetic disorder affecting telomere replication. Mutations in the genes encoding telomerase enzymes result in telomeres with RNA subunits that do not read 3'-CAACCCCAAC-5'. DKC symptoms include bone marrow failure (reduced production of blood cells) and anemia. If symptoms are severe, a bone marrow transplant may be the only form of effective treatment. Question 4: To explain how mutations in genes encoding telomerase RNA subunits could lead to bone marrow failure, answer the two questions below. I am only expecting single sentence answers for this question. A. When an RNA subunit on telomerase does not function, what happens to the length of the chromosome over time? B. Why might this mutation be more of a problem in rapidly dividing cells like hematopoietic stem cells?
Find non-cancerous, non--nonsense, point mutation genetic disease. Describe the disease's name and the type of mutation. Compare the gene sequence between wild type and mutant. Compare the polypeptide sequence and structure encoded by the wild type's gene and the mutant's gene. Describe and explain the consequences of the mutation to a patient's health. Note: 1. These questions will test the concepts of DNA-Protein transcription and translation on the effects of mutation. 2. Using dissimilar example/solution from your classmate and lecture's notes is encouraged. 3. Provide citation and reference.
Identify the various types of DNA repair mechanisms known to counteract the effects of UV radiation. Drag the terms on the left to the appropriate blanks on the right to complete the sentences. Reset Help SoS repair is dependent on a photon-activated enzyme that cleaves thymine dimers. excision repair is the process by which an endonuclease clips out UV-induced dimers, DNA photoreactivation repair polymerase III fills in the gap, and DNA ligase rejoins the phosphodiester backbone. recombinational repair uses the corresponding region on the umdamaged parental strand of the same polarity. is a process in E. coli that induces error-prone DNA replication in an effort to fill gaps by inserting random nucleotides.
A subset of colorectal cancers is associated with mutations in the Mut genes which code for proteins involved in repairing DNA mismatches. How would mutations in the Mut genes affect the DNA of an individual?
Explain the connection between defects in DNA repair systemsand the inherited human disease xeroderma pigmentosum.
What is the Philadelphia chromosome? Briefly describe how it causes chronic myeloid leukemia.