Questions and Answers
What is Turner syndrome?
A condition that occurs when one of the sex chromosomes is partially missing or rearranged.
What gene is known to be important for bone development and growth in Turner syndrome?
SHOX
What is Klinefelter syndrome?
A condition related to the X and Y chromosomes, often characterized by an extra copy of the X chromosome.
Klinefelter syndrome is only associated with extra Y chromosomes.
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What is most often the cause of Down syndrome?
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What is mosaic Down syndrome?
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What is colchicine used for?
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What is a Giemsa band?
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What is a metaphase spread?
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What does gel electrophoresis do?
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What is a keystone species?
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What is a population?
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What is Rachael Carson known for?
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Who were Watson and Crick?
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Who was Rosalind Franklin?
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What are the structural and chemical differences between DNA and RNA?
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What is a codon? What is an anticodon?
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What are the three types of RNA?
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How does DNA make copies of itself?
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What is the basic structure of DNA?
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Which parts of DNA make up the 'rungs' and 'sides'?
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How are proteins made?
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What is a mutagen?
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What are the different types of mutations?
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AAA TTA CGG to TAA ATT ACG would be what type of mutation?
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AAA TTA CGG to AAA TTA CGA would be what type of mutation?
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How are the types of substitution mutations different?
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What is methionine?
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What is a karyotype?
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What is nondisjunction?
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What chromosome number would be found in gametes if nondisjunction occurs?
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What are monosomy and trisomy?
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What chromosome determines the sex of the baby?
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What are the different types of chromosomal mutations?
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Define Down Syndrome, Klinefelter Syndrome, and Turner Syndrome.
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What chromosomal mutation causes Down Syndrome, Klinefelter Syndrome, and Turner Syndrome?
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What is mitosis?
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What are the main goals of mitosis?
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What are the sub-stages of mitosis in order?
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What happens in prophase?
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What happens in metaphase?
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What happens in anaphase?
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What happens in telophase?
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What are somatic cells and are they diploid or haploid?
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What is cytokinesis?
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How is cytokinesis different in animal and plant cells?
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What do haploid and diploid mean?
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What is "n" in genetics?
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What is the purpose of meiosis?
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What are the benefits that meiosis provides organisms?
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Describe what happens in each stage of meiosis 1.
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What are unique features of meiosis compared to mitosis?
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What are the three sources of genetic recombination?
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Who was Gregor Mendel and what was his work?
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What are Mendel's Theories of Inheritance?
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What is the Law of Independent Assortment?
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What is the Law of Segregation?
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Can you complete monohybrid Punnett squares?
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What is the difference between heterozygous and homozygous?
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How do the terms "heterozygous" and "homozygous" apply to phenotypes and genotypes?
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Are you able to perform crosses with traits that use simple dominance, incomplete dominance, codominance, etc?
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Are you able to tell if a trait is completely dominant, codominant, etc., based on possible phenotypes?
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Are you able to perform a dihybrid cross?
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Can you describe what happens throughout the cell during each stage of mitosis?
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Could you identify diagrams of each stage of mitosis even if they are out of order?
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How are chromatids, chromatin, chromosomes, sister chromatids, and DNA related?
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What is a test cross and why is it useful?
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Be able to predict the phenotype of offspring based on the parents' genotype.
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Be able to predict a parent's genotype based on their offspring's genotypes.
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What are P, F1, and F2 generations?
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How do sex-linked traits work?
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What traits have you worked with frequently (e.g., color blindness, blood types)?
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Know all the definitions of your main vocab words.
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What are the enzymes involved in DNA replication and their roles?
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What are the three parts of a nucleotide?
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Who were the scientists involved in the early discovery of DNA structure and function?
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Who was Griffith?
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Who were Hershey and Chase?
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Study Notes
Mitosis and Cell Division
- Mitosis involves the separation of chromosomes into two identical nuclei, resulting in two genetically identical daughter cells.
- The four phases of mitosis are prophase, metaphase, anaphase, and telophase, with cytokinesis occurring concurrently.
- In prophase, chromatin condenses into chromosomes, and the nuclear envelope begins to break down.
- Metaphase features the alignment of chromosomes at the cell's equatorial plane, maximally condensed.
- During anaphase, sister chromatids are pulled to opposite poles of the cell, with this phase lasting about 1% of the cell cycle.
- Telophase involves the reformation of the nuclear envelope around the separated chromosomes, which decondense.
- Somatic cells are diploid (2n), containing two sets of chromosomes, whereas gametes (sperm and eggs) are haploid (1n).
Cytokinesis
- Cytokinesis is the process that divides the cytoplasm, occurring differently in plant and animal cells.
- In animal cells, the plasma membrane forms a cleavage furrow, pinching the cell into two.
- Plant cells form a cell plate that grows inward to separate daughter cells due to their rigid cell walls.
Meiosis and Genetic Variation
- Meiosis consists of two rounds of division (meiosis I and II), reducing chromosome number by half and promoting genetic diversity.
- Genetic recombination occurs during meiosis I through crossing over and independent assortment.
- Meiosis results in four non-identical haploid cells, unlike mitosis, which produces two identical diploid cells.
Mendel's Theories of Inheritance
- Gregor Mendel is considered the father of genetics, establishing principles of inheritance from his pea plant experiments.
- The Law of Segregation states that allele pairs separate during gamete formation, while the Law of Independent Assortment states that genes for different traits segregate independently.
Genotype and Phenotype
- A test cross helps determine the zygosity of a dominant phenotype by crossing it with a recessive phenotype.
- Homozygous individuals carry two identical alleles for a trait, while heterozygous individuals carry two different alleles.
- Phenotypes can indicate dominance patterns, such as complete dominance, incomplete dominance, and codominance.
Key Scientists in DNA Research
- Frederick Miescher discovered DNA in 1869, calling it 'nuclein.'
- Oswald Avery confirmed DNA as the hereditary material, while Chargaff established base pairing rules.
- Rosalind Franklin's X-ray diffraction images (Photo 51) were crucial in elucidating DNA's helical structure.
- Watson and Crick proposed the double helix model of DNA, awarded the Nobel Prize in 1962 along with Wilkins.
Important Terminology
- Nucleotides, the building blocks of DNA, consist of a sugar, phosphate, and a nitrogenous base.
- Chromatin is the DNA-protein complex, while chromosomes are condensed structures formed during cell division.
- Sister chromatids are identical copies of a chromosome, linked at the centromere before division.
- "n" represents a complete set of chromosomes, with diploid being 2n and haploid being n.
Genetic Recombination
- Three sources of genetic variation include crossing over, independent assortment of chromosomes, and fertilization of genetically diverse gametes.
- Key traits studied in genetics include color blindness and blood type inheritance, with different genetic patterns influencing their expression.### Structural and Chemical Differences Between DNA and RNA
- RNA consists of ribose sugar; DNA contains deoxyribose sugar.
- RNA nucleotides include uracil, while DNA nucleotides have thymine.
- Structural configurations differ: RNA is usually single-stranded; DNA is a double helix.
Codons and Anticodons
- Codon: A three-base sequence on mRNA that specifies an amino acid.
- Anticodon: A three-base sequence on tRNA that pairs with its corresponding codon on mRNA.
- tRNA functions as a bridge during protein synthesis, ensuring the correct amino acid is added.
Types of RNA and Their Functions
- Messenger RNA (mRNA): Transcribes genetic information from DNA and transports it to the cytoplasm for protein synthesis.
- Ribosomal RNA (rRNA): Found in ribosomes, directs translation of mRNA into proteins.
- Transfer RNA (tRNA): Delivers amino acids to the ribosome, corresponding to each mRNA codon.
DNA Replication
- Replication is the process by which DNA makes a copy of itself.
- Each existing DNA strand serves as a template for creating two identical DNA double helices.
Basic Structure of DNA
- DNA is composed of nucleotides, which include deoxyribose sugar, a phosphate group, and nitrogenous bases: adenine, thymine, cytosine, and guanine.
Components of DNA Structure
- The "rungs" of the DNA helix are formed by base pairs (A-T, G-C).
- The "sides" of the DNA ladder are composed of alternating sugar (deoxyribose) and phosphate molecules.
Protein Synthesis: Transcription and Translation
- Transcription transfers DNA information to mRNA in the nucleus.
- Translation involves ribosomes reading the mRNA sequence and tRNA bringing corresponding amino acids for protein assembly.
Mutagens and Mutations
- Mutagens are agents that cause mutations, such as chemicals or radiation.
- Mutations can arise from inaccurate DNA replication or external agents damaging DNA.
Types of Mutations
- Substitution: Replacement of one base with another; can lead to missense, nonsense, or silent mutations.
- Insertion: Addition of extra base pairs into DNA.
- Deletion: Loss of a segment of DNA.
- Frameshift: Caused by insertions or deletions that disrupt the reading frame.
Specific Mutations in Examples
- AAA TTA CGG to TAA ATT ACG indicates a frameshift mutation.
- AAA TTA CGG to AAA TTA CGA indicates a substitution mutation.
Types of Substitution Mutations
- Silent mutation: Changes a base without altering the resulting amino acid.
- Nonsense mutation: Changes a codon to a stop codon, leading to truncated proteins.
- Missense mutation: Changes a base pair, resulting in a different amino acid.
Methionine
- Methionine is an essential amino acid, not synthesized by the body.
- Plays roles in protein synthesis and fat metabolism.
Karyotyping
- A laboratory technique used to examine chromosome composition in a cell.
- Can detect chromosomal abnormalities such as deletions, duplications, and translocations.
Nondisjunction
- The failure of chromosomes to separate properly during cell division, leading to aneuploidy.
- Results can include gametes having an extra or missing chromosome.
Chromosomal Mutations and Genetic Disorders
- Down Syndrome: Typically caused by trisomy 21 (three copies of chromosome 21).
- Klinefelter Syndrome: Caused by an extra X chromosome in males (47,XXY).
- Turner Syndrome: Related to the absence or alteration of one X chromosome (monosomy X).
Colchicine
- A treatment drug for gout that disrupts the mitotic spindle, used in karyotyping to halt cell division for chromosome analysis.
Giemsa Banding
- A staining method used to visualize chromosomes by highlighting specific banding patterns for identification during karyotyping.### Heterochromatic Regions
- Heterochromatic regions contain AT-rich DNA and are generally gene-poor.
- These areas exhibit darker staining in G-banding techniques.
Metaphase Spread
- A metaphase chromosome spread is crucial in cytogenetics for karyotyping.
- It aids in analyzing chromosomal numerical or structural changes.
Chromosome Centromere Positions
- Familiarity with metacentric, submetacentric, and acrocentric centromeres is necessary for chromosome identification.
Gel Electrophoresis Components
- Key components include agarose (medium), buffer (maintains pH), a comb (creates wells), and an electric current (drives separation).
- Each component contributes to the effective separation of macromolecules.
Function of Gel Electrophoresis
- Gel electrophoresis separates and analyzes macromolecules like DNA, RNA, and proteins based on size and charge.
- Negative molecules migrate through a gel matrix; shorter segments move faster than longer ones due to easier passage through pores (sieving effect).
- Proteins are separated mainly by charge, as gel pores are too large for size-based separation.
- This technique can also separate nanoparticles.
Analyzing Gel Results
- Ability to draw conclusions from gel diagram results is essential for molecular assessment.
Gattaca Film Analysis
- Engagement with plot-related questions is necessary for understanding the film's themes and implications.
Bioethics Discussion
- Critical discussions surrounding the bioethical issues presented in Gattaca are important for comprehension of societal implications.
Biotic and Abiotic Factors
- Biotic factors: living components in an ecosystem (e.g., animals, plants, microorganisms).
- Abiotic factors: non-living elements (e.g., climate, soil, water).
Keystone Species Importance
- Keystone species play a unique role in maintaining ecosystem balance; their absence can dramatically alter or even collapse ecosystems.
Population, Community, Ecosystem, and Habitat Definitions
- A population is a group of individuals of the same species within a specific area, demonstrating genetic variation.
- A community comprises all populations in a given area, characterized by interactions and resource competition.
- Ecosystems encompass both the biotic community and abiotic environment, dynamic through interrelated environmental factors.
- Habitats are natural environments where organisms live, influencing their survival and behavior.
Rachel Carson's Contributions
- Renowned marine biologist and conservationist known for "Silent Spring," a pivotal work in the environmental movement.
- Began her career in the U.S. Bureau of Fisheries and transitioned to full-time writing in the 1950s.
- Authored several bestselling books on ocean life, enhancing public awareness of environmental issues.
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Test your knowledge on mitosis with these flashcards. Learn about the process, goals, and significance of mitosis in cell division. Perfect for biology students looking to reinforce their understanding of this key cellular event.