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Here is a comprehensive study guide based on the provided sources, covering key topics, questions, vocabulary, and answers related to genetics:
Module 1: Introductory Material
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Key Topics:
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The three main branches of modern genetics1
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Cell theory2
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The "modern synthesis" of evolution2
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Evolutionary processes2...
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Genotype and phenotype2...
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PCR (Polymerase Chain Reaction)2...
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Hypothesis testing vs. discovery-based science2...
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Experimental variables2...
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Confirmation bias2...
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Model organisms2...
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Genome size2...
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Faculty research2...
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Vocabulary:
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Gene: The basic unit of heredity passed from parent to child, made up of DNA sequences arranged at specific locations on chromosomes3....
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Genetics: The study of inheritance, including the interplay of genes, DNA variation, and interactions with environmental factors11....
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DNA: The molecule carrying genetic information for the development and functioning of an organism, composed of two linked strands in a double helix shape3....
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Chromosome: A structure in the cell nucleus composed of chromatin and containing genes, becoming visible during cell division3....
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Allele: A variant form of a gene2....
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Phenotype: The set of observable characteristics of an individual resulting from the interaction of its genotype with the environment4....
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Genotype: The genetic makeup of an organism, or the complete set of genes4....
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Heredity: The passing on of physical or mental characteristics genetically from one generation to another15....
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Genome: All the genetic material in a cell or individual organism5....
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Discovery-based science: An approach that aims to observe, explore, and discover without a preconceived specific hypothesis6....
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Hypothesis-based science: An approach that begins with a specific question or problem and a potential answer or solution that can be tested (scientific method)6....
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Study Questions and Answers:
1.
Name and define the three main branches of modern genetics.
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Transmission genetics (Mendelian genetics): The study of the transmission of traits in successive generations1....
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Evolutionary genetics: Concerns the genetic basis of evolutionary change in populations1.
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Molecular genetics: Studies the structure and function of genes at the molecular level1.
2.
Of the three main branches of modern genetics, which is effectively the oldest?
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Transmission genetics1....
3.
In short, what is the cell theory as postulated by Virchow?
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While the source does not contain the specifics of Virchow's cell theory, generally, cell theory states that all living organisms are composed of cells, they are the basic structural/functional unit of organisms and all cells come from pre-existing cells.
4.
When was the cell theory postulated?
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The sources do not contain this information.
5.
What is the "modern synthesis" and approximately when did it occur?
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The modern synthesis unified Mendelian genetics with Darwin's theory of evolution by natural selection, integrating genetics, molecular biology, and evolution2....
6.
Name four processes that can be responsible for evolutionary change in populations of a species.
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Natural selection, migration, mutation, genetic drift2....
7.
Define the terms genotype and phenotype.
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Genotype: The genetic makeup of an organism4....
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Phenotype: The observable characteristics of an individual resulting from the interaction of its genotype with the environment4....
8.
What does 'PCR' stand for, and when was it invented?
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PCR stands for Polymerase Chain Reaction and was developed in 19855....
9.
Describe the difference between hypothesis testing and discovery-based science.
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Hypothesis testing: Starts with a specific question or problem and a potential answer that can be tested6....
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Discovery-based science: Aims to observe, explore, and discover without a preconceived hypothesis6....
10.
In an experiment, what is an independent variable? What is a dependent variable?
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Independent variable: Experimental treatments or observed categories7....
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Dependent variable: What is measured in the experiment7....
11.
What is confirmation bias?
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The tendency to interpret new evidence as confirmation of one's existing beliefs or theories8....
12.
Give an example of how hypothesis-based science may be impacted by confirmation bias.
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A researcher who believes obesity causes back pain might assume muscle soreness in an exercise intervention is due to the participants being overweight without investigating further22....
13.
Name at least four common qualities shared by many model organisms.
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Cheap to raise, few ethical constraints, historical body of data, lots of variation, short life cycle, small genome size9....
14.
How big is the human genome?
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3.3 billion base pairs9....
15.
How big is the fruit fly genome?
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180 Mb (million base pairs)9....
16.
Name two or more faculty at UCO involved in genetics research.
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Dr. Michelle Haynie, Dr. James Creecy, Dr. Matthew Parks, Dr. Paul Stone, Dr. Allyson Fenwick10....
Module 2: Cell Division
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Key Topics:
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Cell architecture (bacteria vs. eukaryotes)26...
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Chromosome structure and terminology28...
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Ploidy (haploid, diploid, polyploid)30...
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Cell cycle and its stages (G1, S, G2, M)32...
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Mitosis26...
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Meiosis26...
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Binary fission in bacteria32...
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Vocabulary:
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Chromatid: One of the two identical halves of a duplicated chromosome; the two chromatids that make up a chromosome are referred to as sister chromatids14....
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Chromosome: An individual, long molecule of DNA and complexed proteins13....
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Homologous chromosomes: Chromosomes that are similar in morphology and genetic constitution; in humans, there are 23 pairs of homologous chromosomes, one from each parent14....
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Karyotype: The chromosomal constitution of an individual, often represented by a photograph of chromosomes arranged by size, centromere position, and banding pattern34....
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Locus: The specific, fixed position on a chromosome where a particular gene is located34....
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Diploid: The condition of having two sets of chromosomes per nucleus30....
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Haploid: The condition of having one set of chromosomes per nucleus34....
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Fission: The process where a single-celled organism divides into two or more separate daughter cells32....
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ftsz: A protein essential for bacterial cell division32....
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Somatic cell: Any cell of a living organism other than the reproductive cells34....
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Gamete: A sex cell; in plants and animals, an egg or sperm34....
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Autosome: A chromosome that is not a sex chromosome34....
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Sex chromosome: A type of chromosome involved in sex determination34....
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Dominant: A variant of a gene that expresses itself more strongly than other versions of the gene34....
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Recessive: A variant of a gene that is masked by the presence of a dominant gene34....
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Homozygous: Having two identical alleles for a particular gene34....
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Heterozygous: Having two different alleles for a particular gene34....
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Centromere: A specialized constricted region of a chromatid; contains the kinetochore14....
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Kinetochore: The portion of the chromosome centromere to which the mitotic spindle fibers attach34....
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Synapsis: The process of physical association of homologous chromosomes during prophase I of meiosis34....
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Crossing over/recombination: The breaking and rejoining of homologous (nonsister) chromatids during early meiotic prophase I that results in an exchange of genetic material34....
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Binary fission: A type of asexual reproduction where a cell splits into two identical daughter cells32....
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Mitosis: The division of the cell nucleus resulting in two daughter nuclei, each with the same number of chromosomes as the parent nucleus26....
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Meiosis: Process in which a 2n cell undergoes two successive nuclear divisions, potentially producing four n nuclei; leads to the formation of gametes in animals and spores in plants26....
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Separase: While not defined in the source, it is an enzyme involved in sister chromatid separation34.
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Cohesin: While not defined in the source, it is a protein complex that holds sister chromatids together34.
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Study Questions and Answers:
1.
How big are typical bacterial cells? How about eukaryotic cells?
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Bacterial cells: 0.2-2 micron in diameter and 2-8 micron in length62....
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Eukaryotic cells: 10-100 micron62....
2.
What are three (or more) differences between the DNA inside of a typical bacterial cell versus the DNA inside of a typical eukaryotic cell?
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Bacterial DNA is double-stranded and circular, while eukaryotic DNA is double-stranded and linear64....
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Bacterial cells have significantly less DNA than eukaryotic cells64....
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Bacterial DNA lacks introns, while eukaryotic DNA contains introns64....
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Bacteria often have a single, circular chromosome, and lack histone proteins30....
3.
What is a sister chromatid? When does it technically come into existence?
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A sister chromatid is one of two identical copies of a chromosome that are joined together at the centromere, formed during DNA replication in preparation for cell division14.... They come into existence during the S phase (replication)32....
4.
What makes homologous chromosomes homologous? In other words, what is homology?
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Homologous chromosomes are similar in morphology and genetic constitution. They contain the same genes arranged in the same order, meaning they carry the same genetic information14....
5.
In a diploid cell, how many copies of each type of autosome are there? What about in a triploid cell? Pentaploid?
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In a diploid cell, there are two copies of each type of autosome30.... In a triploid cell, there are three copies71.... In a pentaploid cell, there are five copies71....
6.
Which allele is expressed in the phenotype of each of the following genotypes, assuming complete dominance: homozygous dominant, heterozygous, homozygous recessive.
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Homozygous dominant: The dominant allele is expressed53....
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Heterozygous: The dominant allele is expressed53....
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Homozygous recessive: The recessive allele is expressed53....
7.
In humans, which chromosomes are the sex chromosomes and which are the autosomes?
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In humans, the sex chromosomes are the X and Y chromosomes, while the autosomes are the first 22 pairs of chromosomes (numbered 1-22)40....
8.
What is the term for bacterial cell division?
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Binary fission32....
9.
How long does bacterial cell division typically take? Or is there even a 'typical' amount of time for bacterial cell division at all?
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There isn't a single typical time for bacterial cell division, as it varies significantly depending on the specific bacteria species and its growth conditions, but under optimal conditions, many common bacteria can divide roughly every 20 minutes74....
10.
Is it possible for a haploid cell to fully complete mitosis? Why or why not?
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The source does not explicitly state whether a haploid cell can complete mitosis.
Module 3: Transmission Genetics and Linkage
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Key Topics:
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Mendel's laws of inheritance76...
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Monohybrid and dihybrid crosses76...
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Test cross79...
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Sum and product rules80...
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Binomial factor expansion80...
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Linkage and gene maps77...
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Centimorgan80...
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LOD score analysis80...
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Pedigree analysis76...
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Autosomal dominant and recessive inheritance80...
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Vocabulary:
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Mendel’s first law of inheritance (Law of Segregation): During gamete formation, the two alleles for a trait separate, so each gamete receives only one allele80....
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Mendel’s second law of inheritance (Law of Independent Assortment): The alleles of separate genes assort independently from one another during gamete formation77....
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Monohybrid cross: A cross between strains that are true-breeding for different versions of a single character80....
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Dihybrid cross: A cross between organisms involving two different genes77....
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Test cross: A cross of an individual of unknown genotype with a homozygous recessive individual to determine the genotype of the unknown individual79....
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Sum rule: The probability of either of two mutually exclusive events occurring is the sum of their individual probabilities80....
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Product rule: The probability of two independent events occurring together is the product of their individual probabilities80....
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Binomial factor expansion: A method to predict genetic outcomes for characters with two traits80....
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Linkage: Genes on the same chromosome are syntenic; linked genes are close together on the same chromosome80....
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Centimorgan: A unit of measure of recombination frequency; 1 centimorgan (cM) = 1% recombination80....
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LOD analysis: A statistical method used to assess linkage between genes, especially in human genomes80....
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Pedigree: A family tree used to trace the inheritance of traits in humans and some animals80....
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Autosomal dominant: A pattern of genetic transmission where a mutated gene located on an autosome is dominant over the normal gene80....
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Autosomal recessive: A pattern of genetic transmission where a mutated gene is located on an autosome, and two copies of the mutated gene must be inherited for the condition to develop80....
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Punnett Square: While not explicitly defined in the source, it is a diagram used to predict the genotypes and phenotypes of offspring in a genetic cross80.
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Study Questions and Answers:
1.
Describe how Mendel’s Law of Segregation applies to gamete formation/meiosis in a pea flower heterozygous for flower color (Pp).
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Mendel’s Law of Segregation states that during gamete formation, the two alleles for a given trait separate from each other, meaning each gamete receives only one allele from the pair, ensuring that each offspring inherits one allele from each parent87.... In a pea flower heterozygous for flower color (Pp), the P allele and the p allele will separate during meiosis, resulting in some gametes carrying the P allele and others carrying the p allele87....
2.
Describe how Mendel’s Law of Independent Assortment applies to offspring ratios in a dihybrid cross of two pea plants, both of which are double heterozygotes for flower color and height (PpTt).
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Mendel’s Law of Independent Assortment states that the alleles of separate genes assort independently from one another77.... In a dihybrid cross of two pea plants that are double heterozygotes for flower color and height (PpTt), the alleles for flower color (P and p) and height (T and t) will assort independently during gamete formation. This results in four possible gamete combinations (PT, Pt, pT, pt) in equal proportions, leading to a characteristic 9:3:3:1 phenotypic ratio in the offspring77....
3.
What is a testcross? Explain how Mendel used a testcross to determine the genotype of his F1 generation in a monohybrid cross.
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A testcross is a cross of an individual of unknown genotype with a homozygous recessive individual79.... Mendel used a testcross to determine the genotype of his F1 generation by crossing the F1 plants with homozygous recessive plants. If the F1 plants were heterozygous, the testcross would produce a 1:1 phenotypic ratio in the offspring, while if the F1 plants were homozygous dominant, all offspring would display the dominant phenotype79....
4.
Define the probability of an event occurring based on previous occurrences of that event. In other words, what is our working definition of probability?
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Probability is the ratio between the number of outcomes we are interested in (favorable outcomes) and all possible outcomes81.... It can also be defined as the number of times an event occurs divided by the total number of events or the number of individuals of a given phenotype divided by all individuals81....
Module 4: Extensions of Transmission Genetics
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Key Topics:
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Sex determination systems97...
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Dosage compensation97...
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Sex-linked, sex-limited, and sex-influenced traits97
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Complete dominance, incomplete dominance, overdominance, and codominance97
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Penetrance97
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Epigenetic inheritance97
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Pleiotropy and epistasis97
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Allelic series97
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Environmental influence on phenotype99
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Vocabulary:
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XY sex determination: A sex-determination system in which females have two X chromosomes (XX) and males have one X and one Y chromosome (XY)97....
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ZW sex determination: A sex-determination system in which males have two Z chromosomes (ZZ) and females have one Z and one W chromosome (ZW)97....
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X/A ratio: The ratio of X chromosomes to autosomal sets in an organism97....
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Temperature-dependent sex determination: A non-genetic process that determines the sex of some reptiles and fish based on the temperature of their eggs97....
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Hemizygous: Having only one copy of a gene or chromosome instead of the usual two97....
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Barr body: A condensed, inactive X chromosome found in the nuclei of female cells97....
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Dosage compensation: A mechanism by which species with sex chromosomes ensure that the homogametic sex does not have too much or the heterogametic sex too little activity of loci on the homogametic sex chromosome97....
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Xist: The source does not explicitly define it, but it is a non-coding RNA involved in X-chromosome inactivation97.
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Sex-linked: Genes located on sex chromosomes97.
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Sex-limited: Traits that are expressed in only one sex97.
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Sex-influenced: Traits in which the phenotype expressed by a heterozygote is influenced by the sex of the individual97.
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Complete dominance: A form of dominance in which the dominant allele completely masks the effect of the recessive allele in heterozygous condition71....
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Incomplete dominance: A form of dominance in which the heterozygous condition produces an intermediate phenotype97.
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Overdominance: A form of dominance in which the heterozygous condition produces a phenotype that is more extreme than either homozygous condition97.
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Codominance: A form of dominance in which both alleles are expressed in the heterozygous condition97....
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Penetrance: The proportion of individuals with a particular genotype that actually display the associated phenotype97.
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Epigenetic inheritance: Inheritance of traits transmitted by mechanisms not directly involving the nucleotide sequence of a gene (e.g., DNA methylation)97....
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Pleiotropy: A single gene affecting multiple traits97.
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Epistasis: The interaction of genes that are not alleles, in particular the suppression of the effect of one such gene by another97.
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Allelic series: The source does not explicitly define it, but it refers to multiple alleles of a single gene97.
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Study Questions and Answers:
1.
Can a mutant allele for a gene ever be dominant over a wild-type allele? If so, how might this occur? Describe a hypothetical example.
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The source does not explicitly address this.
2.
What are epistasis and pleiotropy? How do they differ?
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Pleiotropy: A single gene affecting multiple traits97.
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Epistasis: The interaction of genes that are not alleles, in particular the suppression of the effect of one such gene by another97.
3.
At the molecular level, how is an individual with type AB blood an example of codominance?
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The source does not have the molecular details of AB blood type.
4.
What is a methyl group? How can this molecule affect inheritance patterns?
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A methyl group is a small molecule consisting of one carbon atom bonded to three hydrogen atoms99.... It can affect inheritance patterns by influencing gene expression, turning genes on or off without changing the underlying DNA sequence (DNA methylation)99....
5.
Why is O blood type called the universal donor? Explain from a genetic standpoint.
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O blood type is called the "universal donor" because red blood cells with type O blood lack both A and B antigens, meaning they won't trigger an immune response when transfused into a person with any other blood type (A, B, or AB)102.... O blood has no antigens to be attacked by the recipient's antibodies, making it compatible with all blood types102....
Module 5: Organellar Inheritance
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Key Topics:
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Organellar inheritance104
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Endosymbiosis105
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Maternal, paternal, and biparental inheritance105
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Vocabulary:
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Quadripartite: The source defines this in relation to plant chloroplast genomes105.
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Numt: The source defines this in relation to mitochondrial inheritance105.
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Nupt: The source defines this in relation to nuclear inheritance105.
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Endosymbiosis: The source refers to this process in the context of organellar inheritance98....
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Rubisco: The source refers to this in relation to organellar inheritance105.
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Haploid: The condition of having one set of chromosomes per nucleus39....
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Maternal inheritance: A type of inheritance in which the traits of the offspring are determined by the genotype of the mother105.
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Paternal inheritance: A type of inheritance in which the traits of the offspring are determined by the genotype of the father105.
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Biparental inheritance: A type of inheritance in which the traits of the offspring are determined by the genotype of both parents105.
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Study Questions and Answers:
1.
What is the most common mode of inheritance for both chloroplasts and mitochondria? Name one exception for each.
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The source does not explicitly state the most common mode of inheritance or exceptions.
Terms Chromosome Inheritance
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Anaphase: The stage of mitosis, and of meiosis I and II, in which the chromosomes move to opposite poles of the cell; anaphase occurs after metaphase and before telophase46....
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Asexual reproduction: Reproduction in which a mother cell divides to produce two identical daughter cells that are clones of the mother cell. This type of reproduction is common in single-celled organisms46....
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Asters: Clusters of microtubules radiating out from the poles in dividing cells that have centrioles46....
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Bivalent: See tetrad46....
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Cell cycle: Cyclic series of events in the life of a dividing eukaryotic cell; consists of mitosis, cytokinesis, and the stages of interphase46....
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Cell plate: The structure that forms during cytokinesis in plants, separating the two daughter cells produced by mitosis46....
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Centrioles: One of a pair of small, cylindrical organelles lying at right angles to each other near the nucleus in the cytoplasm of animal cells and certain protist and plant cells; each centriole is in the form of a cylinder composed of nine triplets of microtubules (9 x 3 structure)46....
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Centromere: A specialized constricted region of a chromatid; contains the kinetochore. In cells at prophase and metaphase, sister chromatids are joined in the vicinity of their centromeres37....
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Chiasma: An X-shaped site in a tetrad (bivalent) usually marking the location where homologous (nonsister) chromatids previously underwent crossing-over37....
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Chromatid: One of the two identical halves of a duplicated chromosome; the two chromatids that make up a chromosome are referred to as sister chromatids37....
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Chromatin: The complex of DNA and protein that makes up eukaryotic chromosomes13....
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Chromosomes: Structures in the cell nucleus that are composed of chromatin and contain the genes. The chromosomes become visible under the microscope as distinct structures during cell division13....
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Cleavage furrow: A constricted region of the cytoplasm that forms and progressively deepens during cytokinesis of animal cells, thereby separating the two daughter cells13....
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Clone: (1) A population of cells descended by mitotic division from a single ancestral cell; (2) A population of genetically identical organisms asexually propagated from a single individual. Also see DNA cloning13....
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Colchicine: A drug that blocks the division of eukaryotic cells by binding to tubulin subunits, which make up the microtubules that comprise the major component of the mitotic spindle46....
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Crossing-over: The breaking and rejoining of homologous (nonsister) chromatids during early meiotic prophase I that results in an exchange of genetic material46....
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Cyclins: Regulatory proteins whose levels oscillate during the cell cycle; activate cyclin-dependent protein kinases46....
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Cytokinesis: Stage of cell division in which the cytoplasm divides to form two daughter cells46....
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Cytokinin: A plant hormone involved in various aspects of plant growth and development, such as cell division and delay of senescence45....
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Diploid: The condition of having two sets of chromosomes per nucleus. Compare with haploid and polyploid45....
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DNA replication: The process by which DNA is duplicated; ordinarily a semiconservative process in which a double helix gives rise to two double helices, each with an "old" strand and a newly synthesized strand45....
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G1 phase: The first gap phase within the interphase stage of the cell cycle; G1 occurs before DNA synthesis (S phase) begins. Compare with S and G2 phases45....
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G2 phase: Second gap phase within the interphase stage of the cell cycle; G2 occurs after DNA synthesis (S phase) and before mitosis. Compare with S and G1 phases46....
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Gamete: A sex cell; in plants and animals, an egg or sperm. In sexual reproduction, the union of gametes results in the formation of a zygote. The chromosome number of a gamete is designated n. Species that are not polyploid have haploid gametes and diploid zygotes46....
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Gametogenesis: The process of gamete formation. See spermatogenesis and oogenesis46....
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Gametophyte generation: The n, gamete-producing stage in the life cycle of