Podcast
Questions and Answers
What is the function of the nucleus in a cell?
What is the function of the nucleus in a cell?
The nucleus is the control center of the cell, containing the cell's genetic material (DNA) and directing the cell's activities.
What is the function of the mitochondria in a cell?
What is the function of the mitochondria in a cell?
Mitochondria are responsible for generating energy (ATP) through cellular respiration, providing the power for the cell's functions.
What is the function of the ribosomes in a cell?
What is the function of the ribosomes in a cell?
Ribosomes are the sites of protein synthesis, where amino acids are assembled into proteins based on instructions from messenger RNA (mRNA).
What is the function of the endoplasmic reticulum (ER) in a cell?
What is the function of the endoplasmic reticulum (ER) in a cell?
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What is the function of the Golgi apparatus in a cell?
What is the function of the Golgi apparatus in a cell?
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What is the function of the plasma membrane in a cell?
What is the function of the plasma membrane in a cell?
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Leber's disease, Long Q-T Syndrome, Cystic Fibrosis, and Tay Sach's disease are all caused by alterations in genes that affect specific cell parts.
Leber's disease, Long Q-T Syndrome, Cystic Fibrosis, and Tay Sach's disease are all caused by alterations in genes that affect specific cell parts.
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What is a karyotype?
What is a karyotype?
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What is the difference between a chromatid and a chromosome?
What is the difference between a chromatid and a chromosome?
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How many chromosomes are present in a normal human somatic (body) cell?
How many chromosomes are present in a normal human somatic (body) cell?
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What is the FISH technique?
What is the FISH technique?
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Mitosis is a form of cell division that results in two daughter cells with the same number of chromosomes as the parent cell (diploid).
Mitosis is a form of cell division that results in two daughter cells with the same number of chromosomes as the parent cell (diploid).
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Meiosis is a form of cell division that results in four daughter cells with half the number of chromosomes as the parent cell (haploid).
Meiosis is a form of cell division that results in four daughter cells with half the number of chromosomes as the parent cell (haploid).
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What is the difference between reductional division and equational division?
What is the difference between reductional division and equational division?
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What is crossing over (recombination)?
What is crossing over (recombination)?
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What is the biological significance of meiosis?
What is the biological significance of meiosis?
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What is the difference between oogenesis and spermatogenesis?
What is the difference between oogenesis and spermatogenesis?
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What is nondisjunction?
What is nondisjunction?
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What is the zona pellucida?
What is the zona pellucida?
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What is a zygote?
What is a zygote?
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What is the difference between a fetus and an embryo?
What is the difference between a fetus and an embryo?
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What is the purpose of prenatal testing?
What is the purpose of prenatal testing?
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What is IVF (in-vitro fertilization)?
What is IVF (in-vitro fertilization)?
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What is the difference in structure between deoxyribose and dideoxyribose?
What is the difference in structure between deoxyribose and dideoxyribose?
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What is the Sanger sequencing reaction?
What is the Sanger sequencing reaction?
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What is the Human Genome Project (HGP)?
What is the Human Genome Project (HGP)?
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Describe two approaches used in the HGP.
Describe two approaches used in the HGP.
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What is the difference between the 1000 Genomes Project and the 100,000 Genomes Project?
What is the difference between the 1000 Genomes Project and the 100,000 Genomes Project?
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What is GINA (Genetic Information Nondiscrimination Act)?
What is GINA (Genetic Information Nondiscrimination Act)?
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What is chromatin?
What is chromatin?
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What are histones?
What are histones?
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What is the Watson-Crick model of DNA?
What is the Watson-Crick model of DNA?
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What is the difference between DNA and RNA?
What is the difference between DNA and RNA?
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What is the genetic code?
What is the genetic code?
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What is the role of tRNA (transfer RNA)?
What is the role of tRNA (transfer RNA)?
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What is the role of rRNA (ribosomal RNA)?
What is the role of rRNA (ribosomal RNA)?
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What is the role of snRNA (small nuclear RNA)?
What is the role of snRNA (small nuclear RNA)?
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What is an exon?
What is an exon?
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What is splicing?
What is splicing?
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What are microarrays (gene chips)?
What are microarrays (gene chips)?
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What is epigenetics?
What is epigenetics?
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Describe two types of epigenetic changes.
Describe two types of epigenetic changes.
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Epigenetic changes can be inherited.
Epigenetic changes can be inherited.
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Study Notes
Course Information
- GN 301: Genetics in Human Affairs
- Exam Review for Test #1
Exam Day Information
- Exams are required at DELTA Testing Services or approved remote proctor
- Appointment at DELTA is required, schedule at least 4 hours in advance
- Exam is online on Moodle
- Calculator may be needed, bring one
- One attempt is allowed
- Exam time limit is 60 minutes, after file is opened
Material Provided on Exam 1
- A coding dictionary is provided at the beginning of the exam.
- The 3-letter abbreviation of amino acids may be used instead of the full name, if the 1 letter abbreviation is requested, provide that
- Exam content covers the information in Modules 1, 2, and 3
Purpose of Review Slides
- The slides are for reviewing major vocabulary and topics from Exam 1 material
- These slides are not part of the guided notes
- Incorporate the slides into the guided notes
- The slides serve as a general study guide
Introduction (Lectures 1–3)
- Key vocabulary to use includes Allele, Phenotype, Genotype, Homozygous, Heterozygous, Dominant, Recessive, Carrier, DNA, Mutation, Karyotype, Gene Therapy, and Genetic Counseling
- Various genetic disorders and their genetic basis are included, for example: Huntington's Disease, Sickle Cell Anemia, Cystic Fibrosis, Osteogenesis Imperfecta
- For dominant disorders, one copy of the disorder allele is needed.
- For recessive disorders, two copies of the disorder allele are needed
- Focus on the intersection of genetics and public health
- Discuss important ethical and public health issues involving gene therapy and genetic testing
Lecture 4: Cell Types and Components
- Covers major cell components and their functions: nucleus, mitochondria, ribosomes, endoplasmic reticulum (smooth and rough), Golgi apparatus, plasma membrane, and lysosomes
- Relate specific disorders to alterations in genes affecting specific cell parts. This includes Leber's disease, Long QT Syndrome, Cystic Fibrosis, and Tay-Sachs disease
Lecture 5: Chromosomes and the Cell Cycle
- Identify chromosomes by centromere location
- Differentiate between chromatids and chromosomes, their relationship to the stages of mitosis and meiosis
- Description of the stages in the cell cycle, relate them to chromosome structure
- Describe Karyotypes: how chromosomes are organized in a karyotype
- What can be learned from Karyotypes?
- Number of chromosomes in a normal human somatic cell
- FISH technique & chromosome preparation procedures
Lecture 6: Mitosis and Meiosis
- Describe the steps of mitosis and meiosis.
- Importance of meiosis in generating variation across generations through crossing over and independent assortment of chromosomes
- Define related vocabulary: mitosis, meiosis, stages of mitosis and meiosis, reductional division, equational division, crossing over (recombination), and synapse
Two Biological Goals of Meiosis
- Produce gametes with a haploid number of chromosomes (23 in humans)
- Maintain a constant number of chromosomes across generations through the alternation of meiosis and fertilization
- Introduce variability through the shuffling of maternal and paternal chromosomes during meiosis (approximately 8.4 million possible combinations in humans)
- Explain that crossing over allows for a combination of maternal and paternal alleles within each chromosome
Lecture 7: Gametogenesis, Nondisjunction, and Fertilization
- Types of cells involved in oogenesis and spermatogenesis, location of the process.
- Compare oogenesis and spermatogenesis
- Relate gametogenesis to meiosis and relate the chromosome numbers to each cell type
- Explain nondisjunction, when it occurs, and its outcomes
- Define related vocabulary: fertilization, syngamy, corona radiate, zona pellucida, acrosome; early developmental stages: zygote, fetus, embryo, etc.
- Describe male and female anatomy
- Describe early embryonic development
Lecture 8: Prenatal Testing and IVF
- Describe various prenatal tests (CVS, amniocentesis, cell-free fetal DNA testing), processes, and available information
- Situations where IVF may be necessary
- Guidelines for the number of embryos used in IVF treatment
Lecture 9: DNA, RNA, and Chromatin Structure
- Explain experiments leading to the structure of DNA & techniques
- Structure and components of DNA and RNA, and their differences
- Vocabulary and relevant diagrams: Complementary base pairing, hydrophobic interactions, antiparallel arrangement, plectonic coiling, and Watson-Crick model of DNA.
- Explain the direction of helical coil (right-handed or left-handed coil)
- Define chromatin, histones and relate to chromosome structure,
Lecture 10: DNA Replication
- Describe the Meselson and Stahl experiment and how it determined DNA replication is semiconservative
- Identify leading and lagging strands and the location of Okazaki fragments.
- Explain the function of Okazaki fragments in replication
- Describe how DNA polymerase forms phosphodiester bonds to create new strands that are antiparallel and complementary to the old strands. DNA replication occurs at multiple origins along the chromosome.
- DNA is produced from 5' to 3'
- Describe RNA primers used in DNA replication
- Describe the necessity and function of telomerase in replication
Lecture 11: Transcription, RNA Types, mRNA Processing
- Compare DNA and RNA
- RNA polymerase uses phosphodiester bonds to create RNA in an antiparallel and complementary fashion to the DNA template strand; this is produced in a 5' to 3' direction
- Coding and template strands (DNA) and their relationship to RNA (thymine vs. uracil)
- Describe types of RNA: mRNA, tRNA, rRNA, and snRNA, and their full names
- Describe the structure of genes including promotor, exon, and intron
- Significance of splicing of the primary transcript to create the mature mRNA
Lecture 12: The Genetic Code and Translation
- Describe the properties of the genetic code (degenerate, unambiguous, start and stop punctuation)
- Use a coding dictionary to translate mRNA
- Translation process with related vocabulary (codon, anticodon, ribosome, peptide bond, release factor)
- Use a given DNA sequence to create mRNA and a given mRNA sequence to create a protein
Example: Translate mRNA
- Example of translating mRNA to protein using a given mRNA sequence and the provided genetic code table.
Lecture 13: Regulation of Gene Expression and Epigenetics
- Diagram and describe the function of parts of a eukaryotic gene (promotor, intron, exon, and others)
- Describe the function of microarrays (gene chips)
- Define epigenetics and its connection to changes in gene expressions without changing DNA sequence
- Identify epigenetic changes (DNA methylation, histone modification, including histone tail acetylation).
- Indicate that modifications are inheritable
Lecture 14: DNA Sequencing, HGP, GINA
- Compare deoxyribose and dideoxyribose, explain Sanger sequencing theory
- Major participants and DNA sequencing approaches in the Human Genome Project (HGP)
- Potential uses of DNA sequencing data (1000 genomes project, 100,000 genomes project)
- Concerns about sequencing an individual's DNA
- Provisions and limitations of GINA (Genetic Information Nondiscrimination Act)
Additional Study Materials
- Each module includes review questions that can be used as study material
- Completed guided notes are also an excellent resource
Final Thoughts
- Best of luck on the exam
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Description
Prepare for your Genetics in Human Affairs Exam with this review quiz. The material covers key vocabulary and topics from Modules 1, 2, and 3, providing an essential study guide. Make sure to familiarize yourself with the exam format and requirements ahead of time.