15. The deficiency of glucose-6-phosphate dehydrogenase (G6PD) is one of themost common inborn errors of metabolism worldwide. This congenital disordergenerally results from mutations that are spread throughout the entire geneof G6PD. Three mutations for G6PD, AAAAGAGGG AAACAUGGG,„CACAAUCAC-CACCAUCAC, AUGACUAAA AUGGCUAAA areresponsible for severe deerease of the protein activity. What types of mutationsare these? To answer the question please:I) explain what the mutation is;2) describe the types of mutation you know;3) explain the difference between germline and somatic mutatiymem

There are three main components in our body that help us to store and express the information within…

Answered: of G6PD. Three mutations for G6PD,…

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 8QP: Bruce Ames and his colleagues have pointed out that although detailed toxicological analysis has...

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6. Why would the lack of lactase cause Carol so much distress? Where would the undigested lactose travel from the small intestine. a) what could the production of gas from the breakdown of sugar. 7) Are enzymes only important for digestion, as is the case with lactase? 8. Why would it be important to regulate the function of an enzyme at all? Please read the reading, and then answer the questions.
1 A 23-year-old man developed blurring of central vision in his left eye which later diagnosed as Leber’s Hereditary Optic Neuropathy. It is a genetic disease characterized by a mutation in mitochondrial DNA that produces a low activity of Complex I. It lowers the amount of energy available to the cells of the optic nerve and retina. These cells are damaged and even die because of lack of energy. 2a) List out the enzyme of citric acid cycle that is affected by this diseases.
26. Which of the following amino acids can enter directly into the citric acid cycle intermediates? 27. Organic nutrients which are required in small amounts a. fibers b. minerals c. vitamins d. water 28. This is also known as quality and quantity protein-energy malnutrition a. bohemia b. kwashiorkor c. obesity d. Marasmus
1. The enzyme that catalyzes the conversion of CH4 + 02 to CH3OH is likely to be classified asa. Isomeraseb. Ligasec. Transferased. Lyasee. Hydrolasef. Oxidoreductase
4.A 65-year old man complains of an increasing resting tremor of hands, stiffness in muscles, a change in his gait. His wife noted anxiety and emotional lability. What diagnosis can be made?a)Concentration of what catecholamine in the neostriatum can lead to such symptoms? Name the desease.b) Write by formulasthe reactions ofsynthesis of this catecholamine and its degradation。 c)What drug therapy is used for treatment of this desease?
Which of the following is correct? A. The gene CYP21A2 is the one that codes for the formation of glucose-6 phosphate dehydrogenase B. Simple virilizing form of Congenital adrenal hyperplasia is the most sever form of this disorder C. Salt wasting type of congenita adrenal hyperplasia is the most severe form of this disorder. D. The gene CYP21A1 is the one that codes for the formation of galactokinase in type 2 galactosemia.
5. Which of the following enzymes does not take part in the TCA cycle?    Fumarase.  Succinyl-CoA synthetase.   Aconitase.  Malate dehydrogenase.   Phosphoglycerate mutase.
21) a decrease in cell mass, reduction, is observed when which of the following conditions are met. a) abundant energy b) abundant amino acids c)growth factors d) all of these e)none of these
Questions 4 through 6 refer to the following hypothetical pathway in which substance A is converted to substance C by enzymes 1 and 2. Substance B is the intermediate produced in this pathway: a. If an individual is homozygous for a null mutation in the gene that codes for enzyme 1, what will the result be? b. If an individual is homozygous for a null mutation in enzyme 2, what will the result be? c. What if an individual is heterozygous for a dominant mutation in which enzyme 1 is overactive? d. What if an individual is heterozygous for a mutation that abolishes the activity of enzyme 2 (a null mutation)?
7. Why are electron carriers (NAD+/NADH and FAD/FADH2) so important in the process of cellular respiration? a) They deliver electrons to the ETC, which in turn sets up chemiosmosis, where most of the ATP is generated. b) They separate the electrons from the protons so that the protons can be moved out of the mitochondrion. c) NADH and FADH2 are major components of the ETC, so without them, there would be no ETC in the cell. d) The electrons that they carry are able to directly phosphorylate ADP in order to generate the bulk of ATP in the cell. e) They transport protons across the mitochondrial membrane.
An "AA" genotype at the ALOX5AP -4900 A>G locus acting in the 5-lipoxygenase pathway may increase risk of breast cancer when intake of which fatty acid is high? a) Stearic acid b) Eicosapentanoic acid c) Linoleic acid d) Alpha-linolenic acid
3. In glucose -6 phosphate dehydrogenase deficiency, red blood cells are severely affected because they lack: a. ribosome b. mitochondria c. more than one answer is correct d. nucleus e. SER

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