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Inborn Errors of Metabolism and Genetics
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Inborn Errors of Metabolism and Genetics

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Questions and Answers

What condition did Sir Archibald Garrod primarily study that supported his concept of inborn errors of metabolism?

  • Albinism
  • Cystinuria
  • Alkaptonuria (correct)
  • Pentosuria

    • What was one of the key observations Garrod made regarding patients with alkaptonuria?

  • They had normal excretion of homogentisic acid.
  • They excreted large quantities of uric acid.
  • They showed symptoms of albinism.
  • They had a familial distribution of the condition. (correct)

    • What kind of inheritance pattern did William Bateson explain regarding the condition studied by Garrod?

  • X-linked dominant inheritance
  • Recessive inheritance (correct)
  • Autosomal dominant inheritance
  • Mitochondrial inheritance

    • According to Garrod's concept, diseases of lifelong duration arise due to what?

    <p>A reduced or missing enzyme activity</p> Signup and view all the answers

    Garrod attributed the accumulation of homogentisic acid in alkaptonuria to what metabolic failure?

    <p>Failure of oxidation</p> Signup and view all the answers

    What did the confirmation of Garrod's hypothesis regarding alkaptonuria reveal in the 1958 study?

    <p>Deficient activity of homogentisic acid oxidase</p> Signup and view all the answers

    Which early 20th-century geneticist first applied the term 'gene' to hereditary determinants?

    <p>Wilhelm Johannsen</p> Signup and view all the answers

    Which of Mendel's laws specifically explains the formation of gametes with different combinations of traits?

    <p>Law of independent assortment</p> Signup and view all the answers

    What does Garrod mean by 'diathesis'?

    <p>A genetic predisposition to disease</p> Signup and view all the answers

    Which statement accurately reflects the concept of chemical individuality?

    <p>Chemical processes vary even among individuals of the same species.</p> Signup and view all the answers

    How do geneticists view the human population compared to physicians?

    <p>They recognize significant genetic variability among individuals.</p> Signup and view all the answers

    What is the significance of the ApoE4 allele?

    <p>It increases the risk of late-onset sporadic Alzheimer's disease.</p> Signup and view all the answers

    What percentage of the population carries the ApoE2 allele?

    <p>7%</p> Signup and view all the answers

    Why is the ApoE3 allele considered the most common?

    <p>It accounts for the majority of alleles in the population.</p> Signup and view all the answers

    Which of the following best describes individuals with the E4/4 genotype?

    <p>They possess the highest genetic risk for Alzheimer's disease.</p> Signup and view all the answers

    What are the implications of Garrod's findings on chemical individuality?

    <p>They suggest that gene variations can affect disease predispositions.</p> Signup and view all the answers

    What does the one gene-one enzyme concept state about biochemical reactions?

    <p>Each biochemical reaction is under the control of a single gene.</p> Signup and view all the answers

    Which of the following diseases is associated with a loss-of-function mutation in an enzyme-encoding gene?

    <p>Alkaptonuria</p> Signup and view all the answers

    Who performed pioneering experiments that linked DNA to heredity?

    <p>Oswald Avery</p> Signup and view all the answers

    What was the first enzyme defect in a human genetic disease demonstrated in 1948?

    <p>Cytochrome-b5 reductase deficiency</p> Signup and view all the answers

    What was the significance of Garrod's work regarding alkaptonuria?

    <p>It established the connection between metabolism and genetic mutations.</p> Signup and view all the answers

    Which enzyme deficiency is responsible for phenylketonuria (PKU)?

    <p>Phenylalanine hydroxylase</p> Signup and view all the answers

    What is the implication of Garrod's notion of 'chemical individuality'?

    <p>Variations in metabolism could imply underlying genetic differences.</p> Signup and view all the answers

    What does the one gene-one enzyme concept suggest about mutations?

    <p>Mutations interfere with specific biochemical reactions.</p> Signup and view all the answers

    What is the frequency threshold for an allele to be considered standard or normal at a genetic locus?

    <p>0.99</p> Signup and view all the answers

    What defines a polymorphic locus?

    <p>An allele frequency less than 0.99</p> Signup and view all the answers

    Which genetic variations are linked to the discovery of DNA polymorphism?

    <p>CNVs and RFLPs</p> Signup and view all the answers

    How much of the human genome is estimated to be polymorphic?

    <p>1 in 100 to 1 in 200 base pairs</p> Signup and view all the answers

    What role does most DNA polymorphism play in relation to human phenotypic differences?

    <p>The majority of DNA polymorphism shows no phenotypic effects.</p> Signup and view all the answers

    What discovery around 1953 significantly advanced the study of human genetics?

    <p>The structure of DNA was described.</p> Signup and view all the answers

    What significant development in the 1970s allowed for the preparation of restriction maps?

    <p>Development of restriction enzymes</p> Signup and view all the answers

    Which phenomena are considered when categorizing genomic polymorphism related to disease susceptibility?

    <p>Subtle effects linked to various diseases</p> Signup and view all the answers

    Study Notes

    Inborn Errors of Metabolism

    • Garrod's studies of alkaptonuria led to the concept of inborn errors of metabolism.
    • He observed that patients with alkaptonuria excreted large amounts of homogentisic acid throughout their lives.
    • This condition was inherited as a recessive trait.
    • Garrod also observed similar phenotypes in albinism, cystinuria, and pentosuria, which led him to propose that certain diseases were caused by a lack or deficiency of an enzyme responsible for a specific metabolic step.

    One Gene-One Enzyme Concept

    • George Beadle and Edward Tatum developed the one gene-one enzyme concept using experiments with bread mold.
    • The concept states that each biochemical reaction is controlled by a single gene.
    • Mutation of a single gene affects the ability of the cell to perform a specific chemical reaction.

    DNA and Heredity

    • Oswald Avery's experiments demonstrated that DNA, not protein, carries hereditary information.
    • The first enzyme defect in a human genetic disease, a deficiency of cytochrome-b5 reductase in recessive methemoglobinemia, was identified by Quentin Gibson in 1948.
    • Subsequent studies led to the discovery of the genetic basis for several other diseases, including von Gierke disease (glycogen storage disease type I), phenylketonuria (PKU), and others.

    Genetic Diversity in Humans

    • Garrod recognized the concept of chemical individuality, proposing that differences in metabolism could lead to variations in the chemical makeup of individuals.
    • This concept was later explained by the discovery of genetic polymorphism.
    • A polymorphic locus is one where the most common allele has a frequency less than 0.99.
    • Many genetic loci exhibit polymorphism, leading to variations in human traits and susceptibility to disease.

    Recombinant DNA Revolution

    • The discovery of DNA structure by Watson and Crick in 1953 paved the way for the recombinant DNA revolution.
    • The development of restriction enzymes, cloning techniques, and DNA sequencing methods revolutionized the study of human genetics.
    • These advancements allow for the identification and characterization of genes, the discovery of mutations, and the development of new therapies for genetic diseases.

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    Related Documents

    Human Genetics Lecture 1 F2024 PDF

    Description

    Explore the groundbreaking concepts of inborn errors of metabolism as introduced by Garrod, along with the one gene-one enzyme theory by Beadle and Tatum. Learn about the pivotal role of DNA in heredity and its implications in various metabolic disorders. This quiz will test your understanding of the relationship between genetics and metabolism.

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