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SCIENCE test review sick humans

Unit 2: Genetics, Cell Cycle, and Cancer Review Sheet


Proteins/Enzyme:

  • Amino Acids:

    • The building blocks of proteins.

    • There are 20 different amino acids that combine in various sequences to form proteins.

  • Proteins:

    • Long chains of amino acids that fold into specific shapes.

    • Proteins are responsible for many functions in the body, including enzyme activity, cell signaling, and structural support.

  • Shape/Function of Proteins:

    • The shape of a protein is crucial to its function.

    • If the shape is altered, the protein may no longer function properly (e.g., sickle cell anemia, where a mutation changes the shape of hemoglobin, affecting its function).

  • What happens if you change the shape of a protein:

    • A protein's function can be disrupted if its shape is altered, potentially leading to diseases or dysfunction in the cell.

  • Function of an Enzyme:

    • Enzymes are proteins that act as catalysts, speeding up chemical reactions without being consumed.

    • They are essential in processes like digestion, metabolism, and DNA replication.

  • Why Enzymes Are Important:

    • They lower the activation energy needed for reactions to occur, making biological processes more efficient.

    • Without enzymes, many biological processes would occur too slowly to sustain life.


Evolution of Sick Humans Packet 1: Major Concepts

  • Heredity:

    • The passing of traits from parents to offspring through genes.

  • Allele:

    • Different versions of a gene. For example, a gene for eye color can have a brown allele or a blue allele.

  • Dominant Allele/Trait:

    • A dominant allele masks the expression of a recessive allele. If you inherit a dominant allele, that trait will be expressed.

  • Recessive Allele/Trait:

    • A recessive allele is only expressed when an individual has two copies of that allele (homozygous recessive).

  • Homozygous Dominant:

    • An individual with two identical dominant alleles (e.g., AA).

  • Homozygous Recessive:

    • An individual with two identical recessive alleles (e.g., aa).

  • Heterozygous:

    • An individual with one dominant and one recessive allele (e.g., Aa).

  • Genotype vs Phenotype:

    • Genotype: The genetic makeup of an individual (e.g., Aa, BB).

    • Phenotype: The physical expression of traits (e.g., brown eyes, tall).

  • Structure of DNA:

    • DNA is a double helix made up of nucleotides, which include a sugar, phosphate group, and a nitrogenous base (adenine, thymine, cytosine, guanine).

  • DNA Base Pair Rules:

    • Adenine (A) pairs with Thymine (T).

    • Cytosine (C) pairs with Guanine (G).

  • RNA Base Pair Rules:

    • Adenine (A) pairs with Uracil (U) (instead of Thymine).

    • Cytosine (C) pairs with Guanine (G).

  • Coding vs Non-coding DNA:

    • Coding DNA: Sequences that are transcribed into RNA and translated into proteins.

    • Non-coding DNA: DNA that does not code for proteins but may play roles in regulating gene expression.

  • How the Environment or Culture Influences Genes:

    • Environmental factors (like diet, exposure to toxins, or stress) can influence gene expression through epigenetics.

  • How Genes Are Inherited from Parent to Offspring:

    • Genes are inherited through the combination of alleles from each parent. A Punnett square can be used to predict the probability of inheriting certain traits.

  • Punnett Square:

    • A tool used to predict the genetic outcome of a cross between two organisms based on their genotypes.

  • Steps of DNA to RNA Transcription:

    1. Initiation: RNA polymerase binds to the DNA at the promoter.

    2. Elongation: RNA polymerase adds RNA nucleotides complementary to the DNA template.

    3. Termination: The RNA polymerase reaches a termination signal, and the RNA is released.

  • Transcribing DNA to RNA:

    • For example, if the DNA sequence is 5’-ATGC-3’, the RNA sequence will be 5’-UACG-3’.

  • Translating Codons to Amino Acids:

    • Codons (3-letter sequences in RNA) are translated into amino acids using the genetic code chart.

    • For example, AUG = Methionine, UUU = Phenylalanine.

  • Lactose Intolerance and Persistence:

    • Lactose intolerance occurs when the body cannot properly digest lactose due to a lack of the enzyme lactase.

    • Lactase persistence is a genetic trait where individuals continue to produce lactase into adulthood.


Evolution of Sick Humans Packet 2: Major Concepts

  • Chromatin vs Chromosomes:

    • Chromatin: The uncoiled form of DNA found in the nucleus.

    • Chromosomes: Coiled and condensed chromatin during cell division.

  • Chromosome Number in a Normal Cell:

    • A normal human cell has 46 chromosomes (23 pairs).

  • Chromosome Number After S Phase:

    • After the S phase, each chromosome is replicated, but the total number of chromosomes remains 46; however, each chromosome consists of two sister chromatids.

  • Interphase:

    • The phase of the cell cycle before mitosis, consisting of:

      • G1 Phase: Cell growth.

      • S Phase: DNA replication.

      • G2 Phase: Preparation for mitosis.

  • Checkpoints:

    • Ensures that the cell cycle progresses correctly and repairs any issues before proceeding to the next phase.

  • Mitosis Steps:

    1. Prophase: Chromosomes condense, nuclear membrane breaks down.

    2. Metaphase: Chromosomes align at the center.

    3. Anaphase: Sister chromatids are pulled apart.

    4. Telophase: Nuclear membranes re-form.

    5. Cytokinesis: Cytoplasm divides.

  • If a Cell Cycle Step Goes Wrong:

    • If errors occur (e.g., chromosomes don’t separate properly), it can lead to genetic disorders or cancer.

  • Cell Differentiation:

    • The process by which cells become specialized in structure and function.

  • Stem Cells:

    • Undifferentiated cells that can become any type of cell.

  • Why Cancer Occurs:

    • Cancer occurs when mutations in genes control cell division, leading to uncontrolled cell growth.

  • Where Are the Mistakes?:

    • Mistakes usually occur in genes regulating the cell cycle (e.g., tumor suppressor genes).

  • Why Are Mistakes an Issue in the Long Run?:

    • These mistakes can lead to uncontrolled cell division, resulting in tumors and cancer.

  • Mutations:

    • Substitution: One base is replaced by another.

    • Deletion: A base is removed.

    • Insertion: A base is added.

    • Mutations can lead to changes in proteins, possibly causing diseases.

  • Leukemia:

    • A type of cancer where the body produces abnormal white blood cells.

    • How it Occurs: Mutations lead to abnormal blood cell production.

    • Symptoms: Fatigue, frequent infections, bruising, etc.

    • Why Symptoms Occur: Abnormal blood cells cannot perform their normal function, leading to weakness and increased infection risk.


Be able to recognize or model:

  • Enzyme/Substrate Interaction: Enzyme binds to a substrate, forms an enzyme-substrate complex, and then catalyzes a reaction.

  • DNA Replication: The process where DNA is copied to ensure genetic information is passed on during cell division.

  • DNA to RNA Transcription: RNA polymerase synthesizes RNA based on a DNA template.

  • RNA to Amino Acid Translation: mRNA is translated by ribosomes to form a polypeptide chain (protein).

  • Cell Cycle (Interphase and Mitosis): Understand the stages and their purpose.


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