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Questions and Answers
What is a characteristic of individuals with Patau Syndrome?
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.
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Match the chromosomal syndrome with its characteristics:
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What type of mutation results in a protein that may function improperly or not at all due to an early stop signal?
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All mutations have observable effects on an organism's phenotype.
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What is the primary difference between genetic and chromosomal mutations?
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A _____ mutation occurs when the addition or loss of DNA bases changes a gene's reading frame.
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Match the type of mutation with its description:
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What might cause mutations in organisms?
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What is the primary function of RNA in the cell?
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RNA consists of a double ribose sugar molecule.
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Where is mRNA synthesized?
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In DNA, adenine pairs with ______.
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Match the type of RNA with its primary function:
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Which amino acid feature is crucial for protein formation?
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Proteins are made up of 25 different amino acids.
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Which gland produces adrenaline and is located atop the kidneys?
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The pancreas is involved in both digestion and hormone production.
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What hormone is produced by the pineal gland and affects the body's internal clock?
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The __________ Nervous System is responsible for regulating involuntary processes such as heart rate and digestion.
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Match the following parts of the nervous system with their functions:
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What is the primary function of adrenaline in the body?
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The Central Nervous System consists of the brain and cranial nerves.
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What are the two types of gonads?
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Too much of ________ can lead to brittle bones and kidney stones.
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What is the primary change that occurs in sickle cell anemia?
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Cystic fibrosis is caused by a duplication mutation in the CFTR gene.
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What is the term used to describe the presence of an extra chromosome, such as in Down syndrome?
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Cri du chat syndrome is caused by a deletion of a portion of chromosome _____.
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What type of mutation is characterized by a region of a chromosome rotating 180 degrees?
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Translocation mutations involve relocating genes to another chromosome.
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Match the following genetic disorders with their causes:
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What are two effects of chromosomal mutations on development?
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What is the primary hormone secreted by the corpus luteum during the luteal phase?
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The menstrual cycle averages 28 months.
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What occurs around day 14 of the menstrual cycle?
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The _______ gland is often referred to as the 'master gland' of the body.
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Match the following hormones with their functions:
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What is the function of the parathyroid hormone (PTH)?
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Hormones are released through ducts into the bloodstream.
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Identify one hormone produced by the thyroid gland.
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The _______ is responsible for controlling hormone release in the pituitary gland.
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What is the main consequence if fertilization does not occur after ovulation?
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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.
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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.
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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
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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!
