Genetics and Chromosomal Disorders Quiz
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Questions and Answers

What is a characteristic of individuals with Patau Syndrome?

  • Longer arms and legs
  • Multiple malformations (correct)
  • Clenched hands
  • Short stature
  • Individuals with Trisomy 13 have a higher likelihood of surviving their first year of life.

    False

    What syndrome is associated with an extra chromosome 21 affecting brain development?

    Down Syndrome

    Individuals with Klinefelter Syndrome often have a higher incidence of _____ delay.

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

    Match the chromosomal syndrome with its characteristics:

    <p>Patau Syndrome = Multiple organ malformations Edward's Syndrome = Severe developmental and physical abnormalities Down Syndrome = Mild to moderate mental retardation Klinefelter Syndrome = Sterility and taller stature</p> Signup and view all the answers

    What type of mutation results in a protein that may function improperly or not at all due to an early stop signal?

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

    All mutations have observable effects on an organism's phenotype.

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

    What is the primary difference between genetic and chromosomal mutations?

    <p>Genetic mutations occur at the level of individual genes, while chromosomal mutations occur at the level of entire chromosomes.</p> Signup and view all the answers

    A _____ mutation occurs when the addition or loss of DNA bases changes a gene's reading frame.

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

    Match the type of mutation with its description:

    <p>Silent mutation = Does not affect the organism's phenotype Missense mutation = Substitutes one amino acid for another Nonsense mutation = Signals premature termination of protein synthesis Frameshift mutation = Changes the reading frame of the genetic code</p> Signup and view all the answers

    What might cause mutations in organisms?

    <p>Exposure to mutagens</p> Signup and view all the answers

    What is the primary function of RNA in the cell?

    <p>Protein synthesis</p> Signup and view all the answers

    RNA consists of a double ribose sugar molecule.

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

    Where is mRNA synthesized?

    <p>In the nucleus</p> Signup and view all the answers

    In DNA, adenine pairs with ______.

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

    Match the type of RNA with its primary function:

    <p>mRNA = Carries genetic information to ribosomes tRNA = Brings amino acids to ribosomes rRNA = Forms part of ribosomes snRNA = Involved in RNA splicing</p> Signup and view all the answers

    Which amino acid feature is crucial for protein formation?

    <p>They link together to form polypeptides.</p> Signup and view all the answers

    Proteins are made up of 25 different amino acids.

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

    Which gland produces adrenaline and is located atop the kidneys?

    <p>Adrenal Gland</p> Signup and view all the answers

    The pancreas is involved in both digestion and hormone production.

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

    What hormone is produced by the pineal gland and affects the body's internal clock?

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

    The __________ Nervous System is responsible for regulating involuntary processes such as heart rate and digestion.

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

    Match the following parts of the nervous system with their functions:

    <p>CNS = Processes information and sends instructions PNS = Carries information from sensory organs to the brain SNS = Controls voluntary movements ANS = Regulates involuntary processes</p> Signup and view all the answers

    What is the primary function of adrenaline in the body?

    <p>Trigger the flight or fight response</p> Signup and view all the answers

    The Central Nervous System consists of the brain and cranial nerves.

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

    What are the two types of gonads?

    <p>ovaries and testes</p> Signup and view all the answers

    Too much of ________ can lead to brittle bones and kidney stones.

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

    What is the primary change that occurs in sickle cell anemia?

    <p>Single nucleotide substitution</p> Signup and view all the answers

    Cystic fibrosis is caused by a duplication mutation in the CFTR gene.

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

    What is the term used to describe the presence of an extra chromosome, such as in Down syndrome?

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

    Cri du chat syndrome is caused by a deletion of a portion of chromosome _____.

    <p>5</p> Signup and view all the answers

    What type of mutation is characterized by a region of a chromosome rotating 180 degrees?

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

    Translocation mutations involve relocating genes to another chromosome.

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

    Match the following genetic disorders with their causes:

    <p>Sickle cell anemia = Single nucleotide substitution Cystic fibrosis = Deletion in the CFTR gene Down syndrome = Trisomy 21 Cri du chat syndrome = Deletion of chromosome 5</p> Signup and view all the answers

    What are two effects of chromosomal mutations on development?

    <p>Disruption of normal function and developmental delays</p> Signup and view all the answers

    What is the primary hormone secreted by the corpus luteum during the luteal phase?

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

    The menstrual cycle averages 28 months.

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

    What occurs around day 14 of the menstrual cycle?

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

    The _______ gland is often referred to as the 'master gland' of the body.

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

    Match the following hormones with their functions:

    <p>Growth Hormone (GH) = Regulates growth and metabolism Thyroid-Stimulating Hormone (TSH) = Stimulates thyroid hormone production Adrenocorticotropic Hormone (ACTH) = Stimulates cortisol production in adrenal glands Oxytocin = Triggers contractions during childbirth</p> Signup and view all the answers

    What is the function of the parathyroid hormone (PTH)?

    <p>Regulates blood calcium levels</p> Signup and view all the answers

    Hormones are released through ducts into the bloodstream.

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

    Identify one hormone produced by the thyroid gland.

    <p>Thyroid hormones</p> Signup and view all the answers

    The _______ is responsible for controlling hormone release in the pituitary gland.

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

    What is the main consequence if fertilization does not occur after ovulation?

    <p>Menstruation begins</p> Signup and view all the answers

    Study Notes

    Chromosomal Syndromes

    • Patau Syndrome: Caused by deletion of part of chromosome 5, leading to multiple organ malformations. Fewer than 10% survive beyond the first year.
    • Edward's Syndrome: Trisomy 13 results in severe developmental and physical abnormalities, including clenched hands and overlapping fingers.
    • Down Syndrome: Caused by trisomy 21, affecting brain development. Characterized by decreased muscle tone and mild to moderate mental retardation.
    • Klinefelter Syndrome: Occurs due to an extra X chromosome in males, leading to sterility, tall stature, and speech delays.
    • Turner Syndrome: In females, a missing X chromosome results in short stature and underdeveloped female sexual characteristics.

    Mutations and Their Impact on Protein Structure and Function

    • Mutation: Changes in DNA sequences that can occur from replication errors or exposure to mutagens.
    • Mutagens: Environmental factors, such as radiation and certain chemicals, that induce mutations.
    • Genetic Mutation: Occurs at the individual gene level; alters nucleotide sequences.
    • Chromosomal Mutation: Involves large-scale changes in chromosome structure or number.
    • Types of Genetic Mutations:
      • Point Mutation: A single base change alters the DNA sequence.
      • Silent Mutation: Does not affect the organism's phenotype.
      • Nonsense Mutation: Creates a premature stop codon, producing a truncated protein.
      • Missense Mutation: Substitutes one amino acid for another in the protein.
      • Frameshift Mutation: Changes the reading frame due to base deletion or insertion.
    • Deletion: Removal of DNA segments may alter protein function.

    Components of RNA Structure

    • RNA is single-stranded and consists of a phosphate group, ribose sugar, and nitrogenous bases.
    • Functions in protein synthesis, acting as a messenger between DNA and ribosomes.

    Location of DNA & RNA in the Cell

    • DNA is mainly in the nucleus, with some in mitochondria; RNA is primarily in the cytoplasm and synthesized in the nucleus.

    Base Pairing Rules

    • DNA Base Pairing: A-T and C-G complementarity; strands are complementary.
    • RNA Base Pairing: A-U and C-G, with uracil replacing thymine.

    Protein Synthesis

    • Amino Acids: Building blocks of proteins linked together to form polypeptides.
    • Types of RNA:
      • mRNA: Carries genetic information from DNA to ribosomes.
      • tRNA: Transfers correct amino acids to ribosomes for protein synthesis.
    • Central Dogma: DNA is transcribed into RNA, which is translated into protein.

    Endocrine System

    • Hormones serve as chemical messengers to regulate body functions.
    • Hypothalamus: Controls hormone release from the pituitary gland.

    Major Endocrine Glands

    • Pituitary Gland: Called the "master gland," regulates other glands, producing various hormones including GH, TSH, and LH.
    • Thyroid Gland: Influences metabolism through thyroid hormones.
    • Parathyroid Glands: Produce PTH, regulating calcium levels and potentially affecting bone density.
    • Adrenal Glands: Secrete over 150 hormones, including adrenaline for stress responses.

    Nervous System

    • Central Nervous System (CNS): Comprises the brain and spinal cord; controls processing and transmission of information.
    • Peripheral Nervous System (PNS): Includes cranial and spinal nerves; connects sensory organs to the CNS.

    Menstrual Cycle Phases

    • Follicular Phase: Begins menstruation and ends with ovulation; FSH stimulates ovarian follicle growth.
    • Ovulatory Phase: Midpoint when LH surge causes egg release.
    • Luteal Phase: After ovulation, progesterone maintains the uterine lining for potential pregnancy.

    Chromosome Mutations

    • Types of Chromosome Mutations:
      • Deletion: Loss of nucleotides from a chromosome.
      • Duplication: Multiple copies of a chromosome region; occurs from improper crossing-over.
      • Inversion: Sections of a chromosome rotate 180 degrees after two breaks.
      • Translocation: Movement of chromosome segments to new chromosomal locations.

    Impact on Protein Structure and Function

    • Sickle Cell Anemia: Resulting from a missense mutation; affects hemoglobin structure and function.
    • Cystic Fibrosis: Arises from a deletion mutation in the CFTR gene, leading to defective ion transport.

    Human Genetic Disorders

    • Trisomies: Abnormal chromosome counts, e.g., trisomy 21 leads to Down syndrome.

    Biological Impact of Mutations

    • Mutations can disrupt normal gene functions, impair development, and lead to delays in cognitive and motor skills.

    Function of Proteins

    • Proteins are essential for disease resistance, tissue building, enzymatic activity, and forming cell membranes.

    Process of Protein Synthesis

    • Transcription: DNA unzips to synthesize mRNA.
    • Translation: mRNA and tRNA organize amino acids into proteins at ribosomes.

    Neuroendocrine System

    • Interaction between the nervous and endocrine systems to maintain homeostasis and regulate various body processes.

    DNA & RNA Structure

    • Nucleotides: Building blocks composed of sugar, phosphate groups, and nitrogenous bases.
    • DNA: Double-stranded, forming a double helix with a sugar-phosphate backbone and base pairing for stability.

    Male Reproductive System

    • Primary Functions: Sperm and hormone production; testosterone is crucial for reproduction.
    • Major Parts: Includes structures like penis, scrotum, and testes, each playing unique roles in reproduction and hormone regulation.
    • Spermatogenesis: Occurs in the seminiferous tubules, influenced by FSH and LH, leading to sperm maturation.

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    Description

    Test your knowledge on various chromosomal disorders, including Patau Syndrome, Trisomy 13, Klinefelter Syndrome, and others. This quiz will cover characteristics, survival rates, developmental delays, and types of mutations related to these syndromes. Get ready to challenge your understanding of genetics!

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