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?

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?

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

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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…
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?
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…
Which of the given disorder can be seen in an individual when the mutation includes substitution of a purine by pyrimidine? 1. Chronic myelogenous leukemia 2. Sickle cell anaemia 3. a thalassemia 4. B thalassemia
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Give only typing answer with explanation and conclusion A healthy asymptomatic 27 year old female, Susan, presents to your clinic with known family history of Spastic Paraplegia 4 caused by pathogenic SPAST mutation identified in her mother. She wants to know the risk that she will develop symptoms eventually based on this information. the penetrance of SPAST mutation is approximately 85% for women and 96% for men.
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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
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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. > >