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Flashcards in this deck (69)

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  • What are the key features of prokaryotic cells?


    • No nucleus
    • No membrane-bound organelles
    • Circular DNA
    • Small, simple (e.g. bacteria)
    cells prokaryote
  • What are the key features of eukaryotic cells?


    • Nucleus present
    • Membrane-bound organelles
    • Linear DNA
    • Larger, more complex
    cells eukaryote
  • What is DNA?


    A molecule that carries genetic instructions for cell structure and function

    dna genetics
  • Where is DNA found in eukaryotic cells?


    • In the nucleus
    • Also small amounts in mitochondria
    dna eukaryote
  • Where is DNA found in prokaryotic cells?


    In the cytoplasm (nucleoid region)

    dna prokaryote
  • What is a nucleotide made of?


    • Sugar
    • Phosphate
    • Nitrogenous base
    dna nucleotide
  • What is the complementary base pairing rule in DNA?


    A–T and C–G

    dna base-pairing
  • How many chromosomes do humans have?


    46 (23 pairs)

    chromosomes human
  • What are autosomes?


    Non-sex chromosomes (22 pairs)

    chromosomes autosome
  • What are sex chromosomes?


    X and Y chromosomes

    chromosomes sex
  • What is a genome?


    All DNA in an organism

    genome dna
  • What is a proteome?


    All proteins produced by an organism

    proteome protein
  • What is a gene locus?


    Location of a gene on a chromosome

    gene locus
  • What is an allele?


    Different versions of a gene

    allele gene
  • What is the cell cycle?


    Process of cell growth and division

    cell-cycle division
  • What happens in S phase of the cell cycle?


    DNA replication

    cell-cycle s-phase
  • What is cytokinesis?


    Division of the cytoplasm

    cytokinesis division
  • What is the purpose of cell cycle checkpoints?


    Ensure cell is ready to divide (DNA correct)

    cell-cycle checkpoint
  • What is mitosis?


    Division producing identical cells

    mitosis division
  • What are the stages of mitosis?


    • Prophase
    • Metaphase
    • Anaphase
    • Telophase
    mitosis stages
  • What happens in metaphase?


    Chromosomes line up in the middle

    mitosis metaphase
  • What happens in anaphase?


    Chromatids separate

    mitosis anaphase
  • What is meiosis?


    Division producing gametes (genetically different)

    meiosis gametes
  • What is the result of meiosis?


    Four haploid gametes

    meiosis result
  • Define haploid


    One set of chromosomes (n)

    ploidy haploid
  • Define diploid


    Two sets of chromosomes (2n)

    ploidy diploid
  • What is crossing over?


    Exchange of DNA between homologous chromosomes

    variation crossing-over
  • What is independent assortment?


    Random distribution of chromosomes

    variation independent-assortment
  • What is nondisjunction?


    Chromosomes fail to separate

    nondisjunction error
  • What is aneuploidy?


    Abnormal number of chromosomes

    aneuploidy chromosomes
  • What is Down syndrome?


    Trisomy 21 (extra chromosome 21)

    disorder down
  • What is Turner syndrome?


    Missing one X chromosome (XO)

    disorder turner
  • What is duplication mutation?


    Extra copy of a chromosome segment

    mutation duplication
  • What is deletion mutation?


    Loss of a chromosome segment

    mutation deletion
  • What is inversion mutation?


    A chromosome segment flips direction

    mutation inversion
  • What is insertion mutation?


    Extra DNA inserted into a chromosome

    mutation insertion
  • What is translocation?


    DNA moves between chromosomes

    mutation translocation
  • What do homologous chromosomes share?


    Same genes, same loci, same size and shape

    homologous chromosomes
  • What is a chromatid?


    One strand of a duplicated chromosome

    chromatid chromosome
  • What is a centromere?


    Region that holds chromatids together

    centromere chromosome
  • What are spindle fibres?


    Structures that pull chromosomes apart

    spindle mitosis
  • What is the relationship between DNA, genes and proteins?


    DNA → genes → code for proteins

    central-dogma gene
  • What is a genotype?


    The genetic makeup of an organism.

    inheritance genetics
  • What is a phenotype?


    The observable traits of an organism.

    inheritance genetics
  • What is a dominant allele?


    An allele that is expressed if present.

    alleles inheritance
  • What is a recessive allele?


    An allele only expressed if two copies are present.

    alleles inheritance
  • What does homozygous mean?


    Having the same alleles (e.g., AA or aa).

    genotype inheritance
  • What does heterozygous mean?


    Having different alleles (e.g., Aa).

    genotype inheritance
  • What is a carrier in genetics?


    An individual who has a recessive allele but shows no trait.

    genetics inheritance
  • What is autosomal inheritance?


    Inheritance of a gene located on a non-sex chromosome.

    inheritance chromosomes
  • What is sex-linked inheritance?


    Inheritance of a gene located on the X or Y chromosome.

    inheritance sex-linked
  • What is incomplete dominance?


    A pattern where hybrids show a blended phenotype.

    inheritance variation
  • What is codominance?


    A pattern where both traits are expressed together.

    inheritance variation
  • What is a monohybrid cross?


    A genetic cross that follows one trait.

    crosses genetics
  • What is a dihybrid cross?


    A genetic cross that follows two traits.

    crosses genetics
  • What does P generation refer to?


    The parent generation in a genetic cross.

    crosses generations
  • What does F1 generation refer to?


    The first offspring generation from the P generation.

    crosses generations
  • What does F2 generation refer to?


    The second offspring generation, typically from F1 crosses.

    crosses generations
  • What is consequence-based ethics in bioethics?


    An ethical approach that focuses on outcomes.

    bioethics ethics
  • What is duty/rules-based ethics in bioethics?


    An ethical approach that follows rules or laws.

    bioethics ethics
  • What is virtue-based ethics in bioethics?


    An ethical approach that focuses on moral character.

    bioethics ethics
  • What does integrity mean in bioethical concepts?


    Honesty and strong morals.

    bioethics principles
  • What does justice mean in bioethical concepts?


    Fairness.

    bioethics principles
  • What does beneficence mean in bioethical concepts?


    To do good.

    bioethics principles
  • What does non-maleficence mean in bioethical concepts?


    To do no harm.

    bioethics principles
  • What does respect mean in bioethical concepts?


    To value others' rights.

    bioethics principles
  • What are social implications in the context of genetics?


    The effects on society.

    implications social
  • What are biological implications in the context of genetics?


    The effects on living systems.

    implications biological
  • What are ethical implications in the context of genetics?


    The moral concerns raised by practices or findings.

    implications ethical
Конспекты

Cells: overview

  • Prokaryotic cells: no nucleus, no membrane-bound organelles, circular DNA in a nucleoid; generally small and simple (e.g., bacteria).
  • Eukaryotic cells: nucleus present, membrane-bound organelles, linear DNA, larger and more complex (animals, plants, fungi, protists).
  • DNA location: in eukaryotes mainly in the nucleus (small amounts in mitochondria); in prokaryotes in the cytoplasmic nucleoid.
  • Cell types: somatic cells = body cells; gametes = sex cells (sperm, egg); germline cells = produce gametes.

DNA, genes & chromosomes

  • DNA structure: double helix of nucleotides; nucleotide = sugar + phosphate + nitrogenous base.
  • Base-pairing: Adenine–Thymine (A–T), Cytosine–Guanine (C–G).
  • Gene vs chromosome vs genome:
  • Gene: DNA segment encoding a trait or protein.
  • Chromosome: compacted DNA molecule; humans normally have \(2n = 46\) (23 pairs).
  • Genome: all DNA of an organism; proteome: all proteins produced.
  • Karyotype: visual arrangement of chromosomes used to detect numerical/structural changes.
  • Chromosome terminology: homologous chromosomes share genes and loci; a chromatid is one arm of a duplicated chromosome; a gene locus is a gene's position.
  • Chromosome counts: haploid = \(n\) (one set), diploid = \(2n\) (two sets); humans: \(n=23\), \(2n=46\).

Common chromosomal abnormalities & mutations

  • Numerical:
  • Aneuploidy: abnormal chromosome number (e.g., Down syndrome = trisomy 21 → \(2n=47\)).
  • Turner syndrome: monosomy X (45, X).
  • Structural:
  • Deletion: loss of a segment.
  • Duplication: extra copy of a segment.
  • Inversion: segment reversed.
  • Insertion: extra DNA inserted.
  • Translocation: segment moves between chromosomes.

Cell cycle & replication

  • Cell cycle phases: G1 (growth) → S (DNA replication) → G2 (preparation) → M (mitosis) → cytokinesis (cytoplasm division).
  • Checkpoints: verify cell size, DNA integrity, and readiness to proceed; prevent propagation of errors.
  • Why cells divide: growth, tissue repair, and reproduction.

Mitosis (somatic cell division)

  • Purpose: produce two genetically identical diploid cells.
  • Stages & key events:
  • Prophase: chromosomes condense, spindle forms.
  • Metaphase: chromosomes align at the metaphase plate.
  • Anaphase: sister chromatids separate and move to poles.
  • Telophase: nuclear envelopes reform; chromosomes decondense.
  • Cytokinesis: division of the cytoplasm.

Meiosis (gamete formation)

  • Purpose: produce four genetically different haploid gametes.
  • Key features:
  • Two successive divisions (meiosis I and II) → reduction from \(2n\) to \(n\).
  • Crossing over (prophase I): homologous chromosomes exchange DNA, increasing variation.
  • Independent assortment (metaphase I): random distribution of homologues.
  • Errors: nondisjunction — failure to separate; leads to aneuploidy.

Genetic variation mechanisms

  • Crossing over: recombination between homologous chromosomes.
  • Independent assortment: random segregation of different chromosome pairs.
  • Mutation: changes in DNA sequence; source of new alleles.
  • Nondisjunction: produces gametes with abnormal chromosome numbers.

Inheritance vocabulary

  • Genotype: genetic makeup (allele combination).
  • Phenotype: observable trait.
  • Alleles: different gene versions; homozygous = same alleles (AA or aa), heterozygous = different (Aa).
  • Dominant allele: expressed when present; recessive: expressed only when two copies present.
  • Carrier: heterozygote that carries a recessive allele without showing the trait.

Mendelian vs non‑Mendelian inheritance

  • Mendelian: follows segregation and independent assortment laws (simple dominant/recessive).
  • Non‑Mendelian examples:
  • Incomplete dominance: heterozygote shows intermediate phenotype.
  • Codominance: both alleles expressed simultaneously.
  • Sex-linked inheritance: gene located on X or Y chromosome (X-linked traits often show different patterns in males and females).

Genetic crosses (quick guide)

  • Monohybrid cross: follows one trait (predict genotype/phenotype ratios using a Punnett square).
  • Dihybrid cross: follows two traits simultaneously (use 4×4 Punnett square or fork method).
  • Generations: P = parent, F1 = first filial, F2 = second filial.

Key terms (concise)

  • Haploid: one set of chromosomes (\(n\)).
  • Diploid: two sets of chromosomes (\(2n\)).
  • Centromere: region that holds sister chromatids together and attaches to spindle.
  • Spindle fibres: microtubules that pull chromosomes during cell division.

Bioethics (frameworks & principles)

  • Ethical frameworks:
  • Consequence-based (utilitarian): focus on outcomes.
  • Duty/rules-based (deontological): follow moral rules or laws.
  • Virtue-based: emphasize moral character.
  • Core bioethical principles:
  • Integrity: honesty and moral soundness.
  • Justice: fairness in treatment and resource distribution.
  • Beneficence: act to benefit others.
  • Non-maleficence: avoid causing harm.
  • Respect: value rights and autonomy.
  • Implications to consider: social, biological, and ethical consequences of biological research and technologies.

Quick formulas & facts

  • Human chromosome counts: haploid \(n = 23\), diploid \(2n = 46\).
  • Mitosis result: two diploid (\(2n\)) identical daughter cells.
  • Meiosis result: four haploid (\(n\)) genetically varied gametes.

Study tips

  • Draw labelled diagrams for prokaryotic vs eukaryotic cells and stages of mitosis/meiosis.
  • Practice Punnett squares for mono- and dihybrid crosses.
  • Memorize definitions, then apply them to examples (e.g., identify nondisjunction vs point mutation).
  • Use karyotypes to visualize numerical/structural chromosome changes.