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</p> Signup and view all the answers

    Which environmental factor is linked to complex genetic conditions?

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

    Which of the following is NOT considered a complex condition?

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

    Which condition is an example of trisomy?

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

    Which of the following disorders is classified as autosomal recessive?

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

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

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

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

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

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

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

    What is a characteristic of Autosomal Dominant disorders?

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

    What type of mutation results in a stop codon?

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

    Which of the following best describes a frameshift mutation?

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

    Which of the following is a chemical mutagen?

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

    What effect do frameshift mutations typically have on proteins?

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

    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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