Genetic Disorders Overview
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Questions and Answers

What type of genetic disorder is expressed by homozygotes with two copies of a gene?

  • X-linked
  • Autosomal Recessive (correct)
  • Y-linked
  • Autosomal Dominant

    • Which of the following is an example of an autosomal dominant disorder?

  • Achondroplasia (correct)
  • Sickle cell
  • Albinism
  • Cystic fibrosis

    • What denotes monosomy in chromosomal abnormalities?

  • Having an extra chromosome
  • Missing a chromosome (correct)
  • Having a chromosomal deletion
  • Having three of each chromosome

    • Which chromosomal abnormality is associated with Down syndrome?

    <p>Trisomy (A)</p> Signup and view all the answers

    Which environmental factor is linked to complex genetic conditions?

    <p>Diet (B)</p> Signup and view all the answers

    What is the main characteristic of X-linked disorders?

    <p>Males can transmit X-linked alleles to daughters (B)</p> Signup and view all the answers

    What kind of chromosomal change does a translocation represent?

    <p>Part of one chromosome moves to another chromosome (C)</p> Signup and view all the answers

    Which of the following is NOT considered a complex condition?

    <p>Sickle cell anemia (D)</p> Signup and view all the answers

    What chromosomal abnormality is trisomy?

    <p>Extra chromosome</p> Signup and view all the answers

    What type of chromosomal abnormality is polyploid?

    <p>3 homologous chromosome pairs</p> Signup and view all the answers

    Nondisjunction

    <p>Chromosomes don’t separate correctly during mitosis and meiosis</p> Signup and view all the answers

    Deletion

    <p>Missing a small part of a chromosome</p> Signup and view all the answers

    Translocation

    <p>Part of one chromosome has moved to another chromosome</p> Signup and view all the answers

    Inversion

    <p>Part of a chromosome has flipped over</p> Signup and view all the answers

    What type of genetic disorder involves changes in more than one gene along with environmental factors?

    <p>Complex conditions (A)</p> Signup and view all the answers

    Which condition is an example of trisomy?

    <p>Klinefelter syndrome (A)</p> Signup and view all the answers

    Which of the following disorders is classified as autosomal recessive?

    <p>Albanism (A)</p> Signup and view all the answers

    What best describes the term 'monosomy' in chromosomal abnormalities?

    <p>Missing a chromosome (B)</p> Signup and view all the answers

    Which of the following conditions is associated with X-linked inheritance?

    <p>Duchenne muscular dystrophy (D)</p> Signup and view all the answers

    Which chromosomal anomaly involves a part of one chromosome moving to another chromosome?

    <p>Translocation (C)</p> Signup and view all the answers

    Which of the following is a classic example of a complex condition influenced by environmental factors?

    <p>Asthma (D)</p> Signup and view all the answers

    What is a characteristic of Autosomal Dominant disorders?

    <p>Expressed with only one copy of the gene (A)</p> Signup and view all the answers

    What type of mutation results in a stop codon?

    <p>Nonsense mutation (B)</p> Signup and view all the answers

    Which of the following best describes a frameshift mutation?

    <p>Insertion or deletion of nucleotide pairs (D)</p> Signup and view all the answers

    Which of the following is a chemical mutagen?

    <p>Nitrous acid (C)</p> Signup and view all the answers

    What type of mutation is referred to as a missense mutation?

    <p>Substitution that results in a different amino acid (C)</p> Signup and view all the answers

    What effect do frameshift mutations typically have on proteins?

    <p>They often result in completely altered proteins (D)</p> Signup and view all the answers

    Flashcards

    Single-gene disorders

    Genetic disorders caused by a mutation in a single gene.

    Autosomal Dominant

    A single copy of the mutated gene is enough to cause the disorder.

    Autosomal Recessive

    Requires two copies of the mutated gene to cause the disorder.

    Chromosomal abnormalities

    Genetic disorders caused by errors in chromosome number or structure.

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    Monosomy

    A missing chromosome.

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    Trisomy

    An extra chromosome.

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    Complex conditions

    Genetic disorders influenced by multiple genes and environmental factors.

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    Nondisjunction

    A failure of chromosomes to separate correctly during cell division.

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    What are genetic disorders?

    Health issues caused by DNA abnormalities, ranging from birth defects to chronic diseases.

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    What are the main causes of genetic disorders?

    Mutations in a single gene, chromosomal abnormalities, and complex conditions involving multiple genes and environmental factors.

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    X-linked inheritance

    A pattern of inheritance where a gene is located on the X chromosome.

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    Mutation

    A permanent change in the DNA sequence. It can be caused by a mutagen (induced) or occur spontaneously.

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    Point mutation

    A change in a single base pair in DNA. It's a simple, localized change.

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    Frame shift mutation

    An insertion or deletion of one or more nucleotide pairs, shifting the reading frame of the DNA code.

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    What causes thymine dimers?

    UV radiation can cause covalent bonds between adjacent thymines in DNA, producing thymine dimers.

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    How does nitrous acid affect DNA?

    Nitrous acid causes adenine to bind with cytosine instead of thymine, leading to a base substitution.

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    Study Notes

    Genetic Disorders

    • Genetic disorders are health problems caused by DNA abnormalities, ranging from birth defects to chronic illnesses.
    • Three main causes of genetic disorders:
      • Mutations in a single gene
      • Chromosomal abnormalities
      • Complex conditions (interactions of multiple genes and environmental factors)

    Autosomal Dominant Disorders

    • Expressed by heterozygotes and homozygotes.
    • One copy of the mutated gene is sufficient to cause the disorder.
    • Examples: Huntington's disease, some cancers (breast and ovarian).

    Autosomal Recessive Disorders

    • Expressed by homozygotes.
    • Two copies of the mutated gene are required to cause the disorder.
    • Heterozygotes are carriers.
    • Examples: Sickle cell anemia, cystic fibrosis, and albinism.

    X-linked Disorders

    • Males inherit X-linked alleles from their mothers.
    • Females inherit X-linked alleles from both parents.
    • Males can only transmit X-linked alleles to their daughters.
    • Examples: Red-green color blindness, hemophilia, and Duchenne muscular dystrophy.

    Chromosomal Abnormalities

    • Involve the number or structure of chromosomes.
    • Monosomy: Missing a chromosome (e.g., Turner syndrome).
    • Trisomy: Having an extra chromosome (e.g., Down syndrome).
    • Klinefelter syndrome: XXY (extra X chromosome in males).
    • Other abnormalities: Polyploidy (having 3 or more of each type of chromosome).
    • Changes in chromosomes structure:
      • Deletion: Part of a chromosome is missing.
      • Duplication: Part of a chromosome is repeated.
      • Translocation: Part of one chromosome is moved to another.
      • Inversion: Part of a chromosome is flipped.
      • Non-disjunction: Failure of chromosomes to separate during cell division.

    Complex Conditions

    • Involve the interaction of multiple genes and environmental factors.
    • Examples:
      • Chronic diseases (heart disease, cancer, diabetes).
      • Developmental disabilities (autism, ADHD, depression, schizophrenia).
      • Environmental exposures (chemicals, pollution, diet) also contribute to complex conditions.

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    Genetic Disorders PDF

    Description

    Explore the fascinating world of genetic disorders, including their causes and types. This quiz covers autosomal dominant and recessive disorders as well as X-linked disorders. Test your knowledge on various examples and key concepts related to genetic abnormalities and their implications.

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