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Questions and Answers
According to Chargaff's rule, which of the following pairs of nitrogenous bases would be in equal proportions in a DNA molecule?
According to Chargaff's rule, which of the following pairs of nitrogenous bases would be in equal proportions in a DNA molecule?
Which structural feature of DNA is primarily responsible for storing genetic information?
Which structural feature of DNA is primarily responsible for storing genetic information?
What percentage of Thymine would you expect in a virus with the following nucleotide composition: 14.1% A, 35.7% C, 36.2% G, 14.0% U?
What percentage of Thymine would you expect in a virus with the following nucleotide composition: 14.1% A, 35.7% C, 36.2% G, 14.0% U?
What occurs during the transcription phase of the central dogma of genetics?
What occurs during the transcription phase of the central dogma of genetics?
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Which type of bond is primarily responsible for holding the two DNA strands together?
Which type of bond is primarily responsible for holding the two DNA strands together?
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What is the primary purpose of DNA replication?
What is the primary purpose of DNA replication?
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What is the product of the transcription process?
What is the product of the transcription process?
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Which statement is true regarding the direction of synthesis in DNA replication?
Which statement is true regarding the direction of synthesis in DNA replication?
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Which enzyme is primarily responsible for the initiation of transcription?
Which enzyme is primarily responsible for the initiation of transcription?
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How many different types of nucleotides are used as substrates for transcription?
How many different types of nucleotides are used as substrates for transcription?
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During DNA replication, which enzyme helps relieve the stress ahead of the replication fork?
During DNA replication, which enzyme helps relieve the stress ahead of the replication fork?
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Which statement correctly describes the structure of a nucleotide?
Which statement correctly describes the structure of a nucleotide?
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What is the relationship indicated by Chargaff's Rule in double-stranded DNA?
What is the relationship indicated by Chargaff's Rule in double-stranded DNA?
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What type of bond forms between adenine and thymine in DNA?
What type of bond forms between adenine and thymine in DNA?
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Which molecules are considered purines in nucleic acids?
Which molecules are considered purines in nucleic acids?
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Which of the following statements about DNA replication mechanisms is true?
Which of the following statements about DNA replication mechanisms is true?
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What does the term 'genetic code' refer to?
What does the term 'genetic code' refer to?
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Which of the following best explains the concept of a genome?
Which of the following best explains the concept of a genome?
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Which of the following processes is part of the Central Dogma of Genetics?
Which of the following processes is part of the Central Dogma of Genetics?
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What type of bond is primarily involved in the synthesis of RNA during transcription?
What type of bond is primarily involved in the synthesis of RNA during transcription?
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During which phase of the cell cycle does DNA replication occur?
During which phase of the cell cycle does DNA replication occur?
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Which enzyme is primarily responsible for unwinding the DNA helix during replication?
Which enzyme is primarily responsible for unwinding the DNA helix during replication?
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What is the primary product of transcription?
What is the primary product of transcription?
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Which sequence is important for initiating transcription?
Which sequence is important for initiating transcription?
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What role does gyrase play during prokaryotic DNA replication?
What role does gyrase play during prokaryotic DNA replication?
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Which statement best describes the function of DNA primase?
Which statement best describes the function of DNA primase?
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What is the role of DNA Polymerase III in DNA replication?
What is the role of DNA Polymerase III in DNA replication?
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What does a nucleotide consist of?
What does a nucleotide consist of?
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What direction is the template DNA strand read during replication?
What direction is the template DNA strand read during replication?
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Which enzyme is responsible for sealing Okasaki fragments on the lagging strand?
Which enzyme is responsible for sealing Okasaki fragments on the lagging strand?
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Which nitrogenous bases are classified as purines?
Which nitrogenous bases are classified as purines?
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What is Chargaff's Rule concerning the composition of DNA?
What is Chargaff's Rule concerning the composition of DNA?
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Which of the following statements is true about the replication fork?
Which of the following statements is true about the replication fork?
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What distinguishes the leading strand from the lagging strand during replication?
What distinguishes the leading strand from the lagging strand during replication?
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Which statement accurately describes the significance of DNA in inheritance?
Which statement accurately describes the significance of DNA in inheritance?
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In what year was the human genome sequenced?
In what year was the human genome sequenced?
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What is the primary function of single strand binding proteins (SSBP) during replication?
What is the primary function of single strand binding proteins (SSBP) during replication?
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What is the complete set of genetic material called in an organism?
What is the complete set of genetic material called in an organism?
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What is the primary purpose of a gene?
What is the primary purpose of a gene?
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Which cell type has the highest rate of mitosis?
Which cell type has the highest rate of mitosis?
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What is the main product of the replication process?
What is the main product of the replication process?
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Which of the following is NOT a substrate used for DNA replication?
Which of the following is NOT a substrate used for DNA replication?
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Which enzyme is key in the initiation phase of DNA replication?
Which enzyme is key in the initiation phase of DNA replication?
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Where does replication begin in prokaryotes?
Where does replication begin in prokaryotes?
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What percentage of the template is typically copied during DNA replication?
What percentage of the template is typically copied during DNA replication?
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What is the primary process of replication in prokaryotes described as?
What is the primary process of replication in prokaryotes described as?
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Which enzyme functions on the lagging strand during eukaryotic DNA replication?
Which enzyme functions on the lagging strand during eukaryotic DNA replication?
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Which process is responsible for the compaction of DNA into chromosomes?
Which process is responsible for the compaction of DNA into chromosomes?
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Which of the following bonds are primarily formed during DNA synthesis?
Which of the following bonds are primarily formed during DNA synthesis?
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What are telomeres primarily composed of?
What are telomeres primarily composed of?
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How do eukaryotic chromosomes replicate to save time?
How do eukaryotic chromosomes replicate to save time?
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Which of the following enzymes synthesizes mitochondrial DNA in eukaryotes?
Which of the following enzymes synthesizes mitochondrial DNA in eukaryotes?
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What term describes the area between an origin of replication and a replication fork in eukaryotes?
What term describes the area between an origin of replication and a replication fork in eukaryotes?
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What is the relationship between high telomerase activity and cancer cells?
What is the relationship between high telomerase activity and cancer cells?
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What is the arrangement of the two strands in the DNA double helix?
What is the arrangement of the two strands in the DNA double helix?
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Which type of bond connects the nitrogenous bases of the DNA strands?
Which type of bond connects the nitrogenous bases of the DNA strands?
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Which term describes the replication process where each new DNA molecule consists of one old and one new strand?
Which term describes the replication process where each new DNA molecule consists of one old and one new strand?
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What is the significance of DNA in terms of generational continuity?
What is the significance of DNA in terms of generational continuity?
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What percentage of Thymine would be expected in a virus containing 14.1% A, 35.7% C, 36.2% G, and 14.0% U?
What percentage of Thymine would be expected in a virus containing 14.1% A, 35.7% C, 36.2% G, and 14.0% U?
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What is the distance covered by the DNA helix per complete turn?
What is the distance covered by the DNA helix per complete turn?
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Which molecules are connected by phosphodiester bonds in the DNA structure?
Which molecules are connected by phosphodiester bonds in the DNA structure?
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Which scientific experiment provided evidence for the semi-conservative model of DNA replication?
Which scientific experiment provided evidence for the semi-conservative model of DNA replication?
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Study Notes
Mendelian Genetics
- Analysis of the inheritance of physical characteristics from parent to offspring
- Also known as Transmission Genetics
- Gregor Mendel was a monk, mathematician, and gardener
- His work involved controlled breeding experiments
What do we already know about Mendelian Inheritance?
- Model Organism: Pisum sativum (garden pea)
- Effective Model Organism:
- Short generation time
- Multiple offspring produced per mating
- Easy to distinguish characteristics
- Easily controlled mating
- Cross & self-breeding possible
Seven Characteristics Studied
- Plant height (tall vs. short)
- Flower color (purple vs. white)
- Flower position (axial vs. terminal)
- Seed (pea) color (yellow vs. green)
- Seed (pea) shape (round vs. wrinkled)
- Pod color (yellow vs. green)
- Pod shape (full vs. constricted)
Inheritance Patterns
- Simple Mendelian Inheritance:
- Trait influenced by one gene
- Two variants (alleles) for the gene in the population
- Monohybrid Crosses:
- Yield a 3:1 phenotypic ratio and 1:2:1 genotypic ratio
- Prove Law of Dominance & Law of Segregation
- Dihybrid Crosses:
- Yield a 9:3:3:1 phenotypic ratio and 1:2:1:2:4:2:1:2:1 genotypic ratio
- Prove Law of Independent Assortment
Review - Experiment 1A
- Parental Generation (P1): Tall (pure breeding) x Dwarf (pure breeding)
- First Filial Generation (F1): Tall
- Conclusion: The tall genetic factor is dominant to the dwarf factor. This is the Principle of Dominance.
Review - Experiment 1B
- Experiment #1B (First Filial Generation): Tall (F1) x Tall (F1)
- Second Filial Generation (F2): 75% Tall and 25% dwarf
- Conclusion: Organisms possess a pair of genetic factors for each trait, with only one member of each pair entering a gamete. During new generation formation, the paired nature is restored in offspring. This conclusion is the Principle of Segregation.
- Meiotic event causing segregation: Anaphase I – no centromere breakage, allowing haploid cells/gametes.
Review - Experiment 2
- Parental Generation (P1): Tall, Red x Dwarf, White (pure breeding)
- First Filial Generation (F1): Tall, Red
- Second Filial Generation (F2): 9-Tall, Red; 3-Tall, White; 3-Dwarf, Red; 1-Dwarf, White
- Conclusion: Each pair of genetic factors assorts independently into gametes, enhancing variation in gametes and offspring. This is the Principle of Independent Assortment.
- Meiotic event causing Independent Assortment: Random Alignment on metaphase spindle
Meiosis creates Segregation and Independent Assortment
- Anaphase I: Separation of homologous chromosome pairs without centromere breakage leads to haploid gametes, which is the source of Segregation
- Metaphase I: Random alignment of homologous pairs leads to very diverse gametes – source of Independent Assortment
Random Alignment (diagram)
- Shows two equally probable arrangements at Metaphase I leading to different chromosome combinations.
Basic Terminology
- Monohybrid Cross: A mating experiment to trace inheritance of a single trait.
- Dihybrid Cross: A mating experiment to trace inheritance of two traits simultaneously.
- Self-Cross: A genetic cross of two genetically identical organisms (for the trait under study).
- Genotype: The pair of genetic factors a organism possesses for a trait (e.g., TT, Tt, tt)
- Phenotype: The observable physical traits of a characteristic (e.g., tall or dwarf)
- Allele: A variant form of a trait (e.g., Tall (T) or dwarf(t)).
- Dominant: The allele that is observed in a hybrid organism (e.g., Tall in Tt).
- Recessive: The allele that is not observed in a hybrid organism (e.g., dwarf in Tt)
- Homozygous: The genotype in which alleles are identical (e.g., TT or tt).
- Heterozygous: The genotype in which alleles are different (e.g., Tt).
- Test-Cross: A genetic cross to determine the genotype of an organism of unknown genotype.
Solution Exercises "word problems"
- Punnett Squares: Charts illustrating genetic cross results
- Meiosis is needed for sexual reproduction
- Indicate gametes using given genotypes (example Zz yy).
Solution Exercises - Practice (example)
- Two white mice (36 white and 12 black)
- Parental genotypes for color
Extensions of Mendelian Principles
- Additional Inheritance Patterns for Single Genes
- Incomplete Dominance and Co-dominance
- Multiple Alleles
- Pleiotropy
- Incomplete Penetrance and Variable Expressivity
- Sex Linked (X-linked & holandric)
- Sex Limited and Sex Influenced
- Modified Ratios and Pedigrees
- Multiple Gene Interactions
- Epistasis
- Complementation
Incomplete Dominance
- Neither allele is truly dominant
- Heterozygotes exhibit an intermediate phenotype
Codominance
- Both alleles exhibit dominance
- Heterozygotes exhibit both alleles simultaneously
More Extensions of Mendel's Concepts
- Multiple Alleles (more than 2 variants/alleles)
- Polygenic Inheritance (characteristics controlled by combined influence of several genes)
Sickle Cell Disease
- Hemoglobin is a protein in RBC that transports O2
- HbS and HbS` alleles are codominant
- HbS HbS: typical hemoglobin & O2 transport.
- HbS HbS`: 50% typical hemoglobin; 50% reduced O2 transport.
- HbS
HbS
: reduced O2 transport - HbS
HbS
(homozygous): Sickle Cell Disease - HbS HbS`: Sickle Cell Trait (carriers)
Which allele is dominant?
- Depends on the phenotypic characteristic considered.
- If anemia is considered abnormal, HbA is dominant
- If phenotype blood-cell shape is considered as abnormal, incomplete dominance exists.
- If hemoglobin molecular composition is considered then codominance exists
Codominance in gene expression
- HbA and HbS alleles code for different hemoglobin forms.
- Single nucleotide difference.
- Missense mutation
- Heterozygotes produce both hemoglobin forms
Take home thoughts
- Definitions of Codominance, Incomplete Dominance and Complete Dominance.
- Interpretation of dominance based on phenotypic level (organismic, cellular, or molecular)
Blood Types
- Antigens & Antibodies
- Gene "H" makes antigen for RBC.
- Genotype produces blood types (A, B, AB, O)
- Gene "I" modifies antigen for specificity
Gene Interactions and Phenotypic Development
- Some genes are subject to environmental influences
- Developmental Genes: affect characteristic development (e.g., palate, fingers).
- Incomplete Penetrance: Less than 100% of individuals with the genotype show the phenotype.
- Variable Expressivity: The range in expression of a trait in different individuals.
Sex Limited & Sex Influenced
- If a gene is autosomal, both males and females carry genotypes
- Sex (Male vs. Female): Can inhibit some autosomal gene expression.
- Sex-limited traits: Expression restricted one sex (e.g., mammary gland development)
- Sex-influenced traits: Expression influenced by sex hormones (e.g., pattern baldness).
Epistasis
- Interaction between two non-allelic genes.
- Result of one genotype "masking/blocking" the expression of a phenotype.
- Examples of epistatic ratios are presented
Recessive Epistasis (Example)
- Shows an example of a recessive epistatic interaction with corresponding phenotypic ratios
Complementation
- Wild type vs. Mutant phenotypes: Multiple genetic sources can cause the same mutant phenotype, as occurs in the case where two different loci code for a given phenotype.
- Example of Complementation Testing with a crossing table
Extra-nuclear Inheritance
- DNA in mitochondria and chloroplasts
- Some genes (not in the nuclear genome) are expressed
- Mitochondrial inheritance (neuropathies & myopathies)
- Mitochondrial genes are involved in ATP generation
Imprinting & Epigenetics
- Imprinting: Marking a gene for cellular recognition (e.g., cytosine methylation)
- Epigenetics: Gene inactivation during gamete formation or early embryonic development, which lasts throughout the lifetime of the organism. This gene is not mutated but is not transcribed/translated; it remains though and may be functional in future generations
Sex as an Inherited Phenotype
- Sexual reproduction: Common in plants and animals, due to diversity.
- Distinguishing Male & Female members in many organisms.
- Development of organisms as either exclusively male or female mandates sexual reproduction occurence in that species.
What is Sex?
- Males have Y and Females have XX chromosomes.
- Genetic sex (XY or XX) determines the development of gonads, leading to either ovaries or testes production.
Various Mechanisms of Sex Determination
- Environmental factors such as surface where the embryo lands can determine sex (e.g., slipper limpet)
Sex Determination by External Environment
- Temperature can determine the sex of some organisms (e.g., Geckos)
Sex Determination by Ploidy and Multiple Alleles
- In honeybees, haploid organisms are males, while females are heterozygous.
Chromosomal Systems of Sex Determination
- Heteromorphic chromosomes have different compositions
- Autosomes are not involved in sex determination
- Homogametic: sex has homologous pair of sex determining chromosomes (e.g., XX females)
- Heterogametic: sex with heteromorphic (unmatched) pair of sex determining chromosomes (e.g., XY males)
Sex Determination in Drosophila melanogaster
- Ratio of X to autosomes determines sex.
- Homodimers and Heterodimers regulate genes.
- Sex-determination involves complex interactions.
Sex Determination in Mammals
- Which is more important for determining sex in humans?
- Many genes are involved, with SRY being critical for male development. Most involved genes are autosomal
- Role of X chromosome, how many genes are present, their essentiality and relationship with "femaleness".
Dosage Compensation in Mammals
- Males and females have different numbers of X chromosomes. A system balances this difference by inactivating an X chromosome in the female
Dosage Compensation in Mammals (detailed explanation)
- X inactivation specific transcript (Xist) RNA attaches to an X chromosome
- Then, the X chromosome condenses to form a Barr body
Mosaic Females
- X inactivation is believed to occur randomly in different cells, causing females to be mosaics with various X-linked trait expressions in their tissues.
X-Linked Inheritance
- X-linked recessive traits occur more often in males
- Examples: Hemophilia, Red-Green Color Blindness
Pedigree Analysis
- Study diagrams displaying family relationships and phenotypes related to a trait, for example, patterns of inheritance.
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Test your understanding of key concepts in statistics and data analysis. This quiz covers topics such as data normalization, hypothesis testing, Type I errors, and data visualization methods. Perfect for students looking to reinforce their knowledge in statistical methods.