GN 301 Exam Review for Test #1
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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?

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?

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?

<p>The ER is a network of membranes involved in protein and lipid synthesis, folding, and transport. It is also crucial for detoxification and calcium storage.</p> Signup and view all the answers

What is the function of the Golgi apparatus in a cell?

<p>The Golgi apparatus modifies, sorts, and packages proteins and lipids, preparing them for transport to other organelles or secretion from the cell.</p> Signup and view all the answers

What is the function of the plasma membrane in a cell?

<p>The plasma membrane is the outer boundary of the cell, acting as a selective barrier that controls the passage of molecules in and out of the cell.</p> Signup and view all the answers

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.

<p>True (A)</p> Signup and view all the answers

What is a karyotype?

<p>A karyotype is an organized display of an individual's chromosomes, arranged in pairs according to size and shape.</p> Signup and view all the answers

What is the difference between a chromatid and a chromosome?

<p>A chromatid is a single, replicated copy of a chromosome. A chromosome is a pair of replicated chromatids held together by a centromere.</p> Signup and view all the answers

How many chromosomes are present in a normal human somatic (body) cell?

<p>46</p> Signup and view all the answers

What is the FISH technique?

<p>FISH (Fluorescence in situ hybridization) is a technique used to detect specific DNA sequences within chromosomes using fluorescent probes.</p> Signup and view all the answers

Mitosis is a form of cell division that results in two daughter cells with the same number of chromosomes as the parent cell (diploid).

<p>True (A)</p> Signup and view all the answers

Meiosis is a form of cell division that results in four daughter cells with half the number of chromosomes as the parent cell (haploid).

<p>True (A)</p> Signup and view all the answers

What is the difference between reductional division and equational division?

<p>Reductional division refers to the first division of meiosis, where the homologous chromosomes separate, reducing the chromosome number by half. Equational division refers to the second division of meiosis, where the sister chromatids separate, resulting in four haploid cells.</p> Signup and view all the answers

What is crossing over (recombination)?

<p>Crossing over is the exchange of genetic material between homologous chromosomes during prophase I of meiosis.</p> Signup and view all the answers

What is the biological significance of meiosis?

<p>Meiosis ensures that each generation inherits only half the number of chromosomes from each parent, maintaining a constant number of chromosomes in a species and also generates genetic diversity through crossing over, thus providing variation in offspring.</p> Signup and view all the answers

What is the difference between oogenesis and spermatogenesis?

<p>Both oogenesis and spermatogenesis are processes of gamete formation in the reproductive organs. However, oogenesis produces a single large ovum (egg) and three polar bodies, whereas spermatogenesis produces four sperm cells. Moreover, oogenesis begins during fetal development and continues throughout a woman's life to produce viable eggs. Spermatogenesis starts during puberty in males and continues throughout their reproductive years.</p> Signup and view all the answers

What is nondisjunction?

<p>Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during meiosis or mitosis, resulting in daughter cells with abnormal numbers of chromosomes.</p> Signup and view all the answers

What is the zona pellucida?

<p>The zona pellucida is a glycoprotein layer that surrounds the oocyte, preventing multiple sperm from fertilizing it.</p> Signup and view all the answers

What is a zygote?

<p>A zygote is a single-celled diploid cell that forms when a sperm cell fertilizes an egg cell.</p> Signup and view all the answers

What is the difference between a fetus and an embryo?

<p>An embryo is a developing organism from the time of fertilization to the end of the eighth week of gestation. A fetus is a developing organism after the eighth week of gestation until birth.</p> Signup and view all the answers

What is the purpose of prenatal testing?

<p>Prenatal testing is used to detect genetic or chromosomal abnormalities in a fetus, providing information for parents to make informed decisions about their pregnancy or potential future pregnancies.</p> Signup and view all the answers

What is IVF (in-vitro fertilization)?

<p>IVF is a technique where fertilization occurs outside the body, with an egg from a woman being fertilized with a sperm cell from a man in a laboratory setting.</p> Signup and view all the answers

What is the difference in structure between deoxyribose and dideoxyribose?

<p>Deoxyribose is a five-carbon sugar present in DNA, with a hydrogen atom on the 2' carbon. Dideoxyribose is a modified sugar used in DNA sequencing, with a hydrogen atom replacing the hydroxyl group on both the 2' and 3' carbons.</p> Signup and view all the answers

What is the Sanger sequencing reaction?

<p>The Sanger sequencing reaction is a method for determining the nucleotide sequence of DNA, using dideoxyribonucleotides that terminate DNA synthesis, allowing for the creation of fragments of varying lengths for analysis.</p> Signup and view all the answers

What is the Human Genome Project (HGP)?

<p>The HGP was a large-scale international effort to determine the complete DNA sequence of the human genome, which was completed in 2003.</p> Signup and view all the answers

Describe two approaches used in the HGP.

<p>Map-based sequencing involved creating a physical map of the genome by identifying landmarks and ordering specific contigs. Shotgun sequencing involved randomly breaking the DNA into smaller fragments, sequencing them, and then reassembling the fragments based on overlapping sequences.</p> Signup and view all the answers

What is the difference between the 1000 Genomes Project and the 100,000 Genomes Project?

<p>The 1000 Genomes Project was a collaboration to sequence the genomes of 1,000 individuals from diverse populations, aiming to identify common genetic variations. The 100,000 Genomes Project is a UK initiative focused on sequencing the genomes of 100,000 individuals with rare diseases and cancers.</p> Signup and view all the answers

What is GINA (Genetic Information Nondiscrimination Act)?

<p>GINA is a US law that prohibits health insurers and employers from discriminating against individuals based on their genetic information.</p> Signup and view all the answers

What is chromatin?

<p>Chromatin is a complex of DNA and proteins, primarily histones, found in the nucleus of eukaryotic cells.</p> Signup and view all the answers

What are histones?

<p>Histones are basic proteins that bind to DNA in eukaryotic cells, forming nucleosomes, which are the fundamental units of chromatin.</p> Signup and view all the answers

What is the Watson-Crick model of DNA?

<p>The Watson-Crick model describes the structure of DNA as a double helix with two antiparallel polymeric strands of nucleotides joined together by hydrogen bonding between complementary base pairs.</p> Signup and view all the answers

What is the difference between DNA and RNA?

<p>DNA (deoxyribonucleic acid) is a double-stranded molecule that stores genetic information, while RNA (ribonucleic acid) is a single-stranded molecule involved in protein synthesis. DNA uses the sugar deoxyribose, while RNA uses the sugar ribose. DNA uses the base thymine (T), while RNA uses uracil (U).</p> Signup and view all the answers

What is the genetic code?

<p>The genetic code is a set of rules that translates the sequence of nucleotides in DNA or RNA into the sequence of amino acids in proteins.</p> Signup and view all the answers

What is the role of tRNA (transfer RNA)?

<p>tRNA molecules are responsible for carrying specific amino acids to the ribosome during translation, where they are added to the growing polypeptide chain based on the mRNA sequence.</p> Signup and view all the answers

What is the role of rRNA (ribosomal RNA)?

<p>rRNA molecules are the structural components of ribosomes, forming the core structure and catalytic sites where proteins are synthesized.</p> Signup and view all the answers

What is the role of snRNA (small nuclear RNA)?

<p>snRNA molecules are involved in splicing, the process of removing introns and joining exons from pre-messenger RNA (pre-mRNA) to produce mature mRNA.</p> Signup and view all the answers

What is an exon?

<p>An exon is a coding sequence of a gene that is transcribed into mRNA and ultimately translated into protein.</p> Signup and view all the answers

What is splicing?

<p>Splicing is the process of removing introns and joining exons from pre-mRNA to produce mature mRNA, which can be translated into protein.</p> Signup and view all the answers

What are microarrays (gene chips)?

<p>Microarrays are tools used to measure the expression levels of thousands of genes simultaneously, providing a snapshot of the genes that are active in a particular cell or tissue.</p> Signup and view all the answers

What is epigenetics?

<p>Epigenetics is the study of heritable changes in gene expression that occur without alterations in the underlying DNA sequence.</p> Signup and view all the answers

Describe two types of epigenetic changes.

<p>Two common types of epigenetic changes include: 1. DNA methylation, where a methyl group is added to a cytosine base, potentially silencing gene expression. 2. Histone modification, where chemical modifications are added to histone tails, affecting how tightly DNA is packaged around histones and impacting gene expression.</p> Signup and view all the answers

Epigenetic changes can be inherited.

<p>True (A)</p> Signup and view all the answers

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.

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