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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- What is the Philadelphia chromosome? Briefly describe how it causes chronic myeloid leukemia.Can you postulate a reason or reasons why children with Down syndrome are 20 times more likely to develop leukemia than children in the general population?Define the following terms: a. anti nucleoside b. HGPRT c. Lesch–Nyhan syndrome d. purine salvage e. gout
- Angelica just learned that her paternal uncle, Aaron, passed away from hypertrophic cardiomyopathy (autosomal dominant). Angelica’s father was killed in a duty as a young man, and therefore, his status is unknown. Her two sisters, Eliza and Peggy, have been tested for the known causative mutation in the family and do not have it. What is the chance that Angelica has the familial mutation for HCM? Group of answer choices 1/33 1/10 1/21Ultraviolet 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 cancerFor the following diseases, describe the best technique for diagnosing them. Please make sure you include how you would tell someone with the disease from someone without the disease. B. Factor V Leiden thrombophilia is caused by a point mutation at position 1691 in exon 10 of the Factor V clotting factor gene that changes an arginine into a glutamine. This change removes one of the cleavage sites for activated protein C and leads to an increased tendency to clot.
- One explanation for the prevalence of the sickle cell anemia trait in the human population in Africa is homozygous individuals carrying the Val-6 mutation die from sickle cell anemia before they can be infected with malaria so it reduced the malarial incidence in Africa. mosquitoes prefer to drink blood from humans with the sickle cell anemia trait so the more people with the mutation, the more mosquitoes there are in the area. having sickle cell anemia makes one more susceptible to malaria so the two go hand in hand with one feeding the other. heterozygous individuals carrying the Val-6 mutation are less susceptible to malaria because their red blood cells are resistant to infection by the malarial parasite.Briefly outline how the Philadelphia chromosome leads to chronic myelogenous leukemia.https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP73 using the above linke, Briefly describe the most common mutation found in this gene. Include details about the type of mutation, and the predicted effect. . where does the mutation occur, what bases are changed; does the mutation change the protein sequence, and if so what would the likely biologics consequences be?
