Genetics Chapter 1 Overview

Human Karyotype

• A visual representation of all 46 human chromosomes.
• Shows the chromosomes' morphology (e.g. size, centromere position).
• Chromosomes are numbered 1-22, with the 23rd pair being the sex chromosomes (X and Y).

Overview of Genetics

• Inheritance: Traits passed from parents to offspring through reproduction.
• Variation: Genetic differences among individuals in a population.
• Reproduction: The process of producing offspring that are genetically similar or not.
• Phenotypes: Observable physical or physiological traits.
• Genotypes: Genetic information of the individual determining characteristics.

Genetics Chapter 1

• Population: Organisms of the same species in a given area.
• Genes vs. Alleles: Genes are segments of DNA coding for a trait; alleles are variant forms of genes.
• Modes of Reproduction: Sexual and asexual reproduction.
• Sexual Reproduction: Involves the combination of genetic material from two parents.
• Asexual Reproduction: Involves one parent and produces genetically identical offspring.
• Diploid vs. Haploid: cells with two sets of chromosomes and cells with one set of chromosomes

Reproduction + Chromosome Transmission

• Chromosomes: Large pieces of DNA carrying genetic material.
• Chromatin: Proteins that associate with chromosomes.
• Prokaryotic: Cells without a nucleus.
• Eukaryotic: Cells with a nucleus.

Cell Cycle

• Cells are in a constant process of division and growth.
• The cell cycle has multiple phases that are divided under interphase (G1, S, G2).
• M phase is the phase of mitosis/meiosis.

Cell Division

• Mitosis: Divides cells while maintaining chromosome number.
• Meiosis: Divides cells while reducing chromosome number
• Both have specific stages

Chromosome Theory of Inheritance

• Chromosomes carry genetic material.
• Chromosomes replicate and segregate during cell division.
• Chromosomes are important for cell reproduction

Chapter 2 cont

• Telophase: Chromatids decondense & new nuclei form.
• Cytokinesis: Cytoplasm divides.
• Mitosis Summary: Diploid parent cell → two diploid daughter cells (clones).
• Meiosis: A form of nuclear division producing haploid cells. • Meiosis I: Homologous chromosomes separate • Meiosis II: Sister chromatids separate

Chapter 2 Cont

• Synapsis: Homologous Chromosomes pair up during meiosis I.
• Crossover: Exchange of genetic material between homologous Chromosomes during meiosis I.
• Nondisjunction: Failure of homologous Chromosomes or sister Chromatids to separate.
• Meiosis I: Separates homologous Chromosomes.
• Meiosis II: Separates sister Chromatids

Chapter 2 cont

• Haploid: One set of chromosomes.
• Diploid: two sets of chromosomes
• Sexual Reproduction: offspring are produced by the joining of two haploid gametes.
• Spermatogenesis: formation of sperm.
• Oogenesis: formation of eggs

Chapter 3

• Mendelian Inheritance: Patterns of inheritance based on observations of genes.
• Law of Segregation: Pairs of alleles separate during gamete formation.
• Law of Independent Assortment: Different genes are inherited independently during gamete formation.
• Phenotype: observable characteristics.
• Genotype: genetic makeup
• Homozygous: two identical alleles.
• Heterozygous: two different alleles.
• Dominant: Allele expressed in heterozygotes.
• Recessive: Allele only expressed in homozygotes

Chapter 3 cont

• Monohybrid Cross: Cross between individuals that are heterozygous for one gene.
• Dihybrid cross: Cross between individuals that are heterozygous for two genes. •Punnet squares used to predict genotypes and phenotypes of offsprings •Chi Squared table used to test hypothesis testing

Chapter 4

• Sex determination: A gene, typically SRY, determines an individual’s sex.
• Sex chromosomes: Have homologous regions & nonhomologous regions (X + Y).
• X linkage inheritance: Affected individuals are often males.

Chapter 5

• Incomplete dominance: Heterozygotes have an intermediate phenotype between homozygotes.
• Codominance: Both alleles expressed equally in heterozygotes. example is blood types
• Multiple Alleles: More than two alleles.
• Polymorphism: Variation in traits (ex. blood type).
• Pleiotropy: one gene influences multiple traits
• Epistasis: a gene masks the expression of another gene interaction.

Chapter 6

• Extranuclear Inheritance: Traits are inherited from outside the nucleus, from organelles Like from mitochondria or chloroplasts).
• Imprinting: Expression of genes depends on whether they are inherited from the mother or the father.
• Maternal Effect: The phenotype of the offspring depends on the genotype of the mother.

Chapter 7

• Linkage: Genes on the same chromosome tend to be inherited together.
• Recombination: Exchange of genetic material during meiosis.
• Map Distance: Estimate of linear distance between genes based on recombination frequency.
• Three-point Testcrosses: Used to determine the order of three linked genes.

Chapter 8

• Chromosome Structure: Organization of DNA within cells.
• Chromosome Changes: Deletion, duplication, inversion, translocation changes the original sequence
• Aneuploidy: Abnormal number of chromosomes.
• Euploidy: Normal Chromosomes numbers (1n, 2n,...).

Chapter 9

• Prokaryotes: Bacteria & Archaea have simpler genetic organization compared to eukaryotes.
• Horizontal Gene Transfer: Movement of genetic material between different species.
• Conjugation, transformation, transduction: genetic mechanisms related to gene transfer.

Chapter 10

• Molecular Technologies: Techniques like PCR & gene cloning to manipulate DNA in a lab setting
• Recombinant DNA Technology: Combination of genetic material from different species.
• Gene cloning: making many copies of a particular gene
• PCR: Polymerase Chain Reaction, is used for DNA replication in a test tube environment

Chapter 11

• DNA Structure: Double helix formed from nucleotides (sugar, phosphate, and bases).
• DNA Replication: Semiconservative process creating copies of DNA. leading and lagging strands.
• DNA Polymerase: Enzyme responsible for synthesizing new DNA strands during DNA replication.
• RNA polymerase: enzyme responsible for synthesizing RNA strands using a DNA template.

Chapter 12

• Bacterial Chromosome Structure: Usually circular & contains DNA.
• Eukaryotic Chromosome Structure: Linear & contains DNA and proteins.
• Transposable Elements: DNA Sequences that can move within the genome.
• Telomeres: Repeating sequences at the ends of eukaryotic chromosomes.

Chapter 13

• DNA Replication: Process of copying DNA, using an existing DNA Strand as a template.
• Semi-Conservative Replication:
• DNA polymerase synthesizes new strands.
• DNA Polymerase: Enzyme that synthesizes new DNA strands.
• Telomeres: Regions at the ends of linear chromosomes.
• Telomere Replication: The replication of the lagging strand ends in linear chromosomes.

Chapter 14

• Transcription: The process of DNA to mRNA.
• RNA Polymerase: Enzyme that synthesizes RNA.
• Promoters: DNA sequence where RNA polymerase binds to begin transcription
• RNA processing: The modification of mRNA before it leaves the nucleus.
• Eukaryotic vs Prokaryotic transcription: difference in initiation, elongation and termination

Chapter 15

• Translation: The process of mRNA to protein.
• Ribosome: The cellular structure where proteins are constructed.
• tRNA: Transfer RNA.
• Codon: Set of three bases in mRNA that codes for a specific amino acid.

Chapter 16

• Gene Regulation: Controls gene expression.
• Operons: Multiple genes under one promoter.
• SEM: Small effector molecules that regulate expression by binding to regulatory proteins.
• Lac Operon: Bacterial operon & model for gene regulation

Chapter 17

• Eukaryotic gene regulation: More complex than bacterial gene regulation.
• Transcriptional regulation: Controlling binding of RNA polymerase to a gene to regulate gene expression
• Chromatin remodeling: Changes in chromatin structure can affect gene expression.

Chapter 18

• Transcriptional Regulation in Eukaryotes: Eukaryotes regulation of gene expression, involving the binding of proteins to specific DNA sequences.
• Post-translational modification: Changes to a protein after it has been synthesized.

Chapter 19

• Mutation: Alteration in DNA sequence.
• Point mutation: One nucleotide changed.
• Substitution: A nucleotide is substituted for another nucleotide (transition or transversion)
• Frameshift mutation: Deletion or addition of a nucleotide pair, causing all subsequent codons to shift.
• DNA Repair: Systems for fixing mutations.
• Spontaneous mutations: Mutations occurring naturally.
• Induced mutations: Mutations caused by environmental factors called mutagens.
• Carcinogens (cancer-causing agents): Induce mutations that are dangerous for an organism

Chapter 20

• Recombinant DNA Technology: Combining DNA fragments from different sources.
• PCR: Polymerase Chain Reaction to amplify specific DNA sequences.
• Vectors: Carriers for moving DNA into cells.
• Restriction Enzymes: Enzymes that cut DNA at specific sequences.
• Gene Cloning: Making many copies of a gene.
• Stem Cells: Undifferentiated cells that can differentiate into various cell types.
• Gene Editing: Changing the genetic code of an organism, such as using CRISPR-Cas9

Chapter 21

• Population genetics: Study of the frequency of genes & genetics in populations.
• Hardy-Weinberg Equilibrium: Model that predicts allele and genotype frequencies in a non-evolving population.
• Allele frequency: Proportion of a specific allele in the population
• Genotype frequency: Proportion of a phenotype in the population

Chapter 22

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Chapter 23

• Population genetics: Study of genes in populations and how they change over time.
• Hardy-Weinberg equilibrium: Model that predicts allele and genotype frequencies in a non-evolving population
• Hardy-Weinberg equation: used to calculate expected allele and genotype frequencies in stable populations.
• Evolution: Change in allele frequencies over time.
• Fitness: Measure of evolutionary success; measured by reproductive success

Explore the fundamental concepts of genetics in this quiz, covering human karyotypes, inheritance patterns, and the difference between genes and alleles. Understand how these genetic principles apply to traits and reproduction modes. Perfect for reinforcing knowledge in the first chapter of genetics.