MSOP-1016 Genetic Medicine & Medical Tools - Dr. Fani Papagiannouli
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Questions and Answers

What is the term used to refer to any difference between the sequence of two individuals' genomes or a reference genome?

  • Chromosomes
  • Variants (correct)
  • Alleles
  • Genes

    • At any particular locus, the two genes may be identical or different. What term is used to describe alternative forms of a gene at the same locus?

  • Recessive Genes
  • Alleles (correct)
  • Dominant Genes
  • Chromatin

    • How many pairs of chromosomes are autosomes in a diploid human cell?

  • 23
  • 24
  • 46
  • 22 (correct)

    • Which term refers to the genes and alleles of an individual?

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

    What is the term for a large molecule composed of one or more chains of amino acids, with the sequence determined by the DNA?

    <p>Proteins (D)</p> Signup and view all the answers

    How many pairs of sex chromosomes are found in a diploid human cell?

    <p>2 (A)</p> Signup and view all the answers

    When two dominant alleles are present, what happens to the expression of recessive genes?

    <p>They are masked (C)</p> Signup and view all the answers

    What term describes the physical appearance of a trait?

    <p>Phenotype (C)</p> Signup and view all the answers

    How many coding genes are present in the human genome approximately?

    <p>20,000 (D)</p> Signup and view all the answers

    What type of variation can be harmless or disease-causing in an individual?

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

    Which type of genetic variation reflects the differences in a person's DNA compared to other people's DNA?

    <p>Single nucleotide polymorphisms (D)</p> Signup and view all the answers

    What is the approximate frequency of single nucleotide polymorphisms (SNPs) in the human genome?

    <p>1 in 1,000 (A)</p> Signup and view all the answers

    Which of the following is NOT a type of structural chromosomal change?

    <p>Single nucleotide polymorphisms (A)</p> Signup and view all the answers

    How do single nucleotide polymorphisms (SNPs) vary between individuals?

    <p>In the sequence of nucleotides (C)</p> Signup and view all the answers

    What is the primary purpose of creating reference human genome sequences?

    <p>To detect genomic variants in each sequenced human genome (B)</p> Signup and view all the answers

    What outcome can single nucleotide polymorphisms (SNPs) have?

    <p>Change an individual's appearance or trait (C)</p> Signup and view all the answers

    What term refers to the collective technologies used to characterize and quantify pools of biological molecules?

    <p>Omics (D)</p> Signup and view all the answers

    Which pair of dysmorphic syndromes exhibits genomic imprinting where Prader-Willi is paternal and Angelman is maternal?

    <p>Prader-Willi and Angelman syndromes (B)</p> Signup and view all the answers

    Which statement regarding non-coding DNA is supported by scientific studies?

    <p>80% of our DNA shows some activity and could have a purpose (D)</p> Signup and view all the answers

    What did scientists previously refer to non-coding DNA as?

    <p>Junk DNA (B)</p> Signup and view all the answers

    Which interdisciplinary field develops methods and software tools for understanding biological data?

    <p>Bioinformatics (B)</p> Signup and view all the answers

    What term describes the role of non-coding DNA sequences in regulating gene expression?

    <p>Maintaining Genome Structure (D)</p> Signup and view all the answers

    What is the effect of silent mutations on the protein sequence?

    <p>They do not result in amino acid changes (A)</p> Signup and view all the answers

    In Hutchinson–Gilford progeria syndrome (HGPS), what is the impact of the mutation in Lamin A?

    <p>Creates premature aging (B)</p> Signup and view all the answers

    What is the consequence of a nonsense mutation in the genetic code?

    <p>Results in a stop codon creation (A)</p> Signup and view all the answers

    What do genome-wide association studies (GWAS) aim to identify?

    <p>Genetic variants associated with specific traits or conditions (B)</p> Signup and view all the answers

    What is the common outcome of frameshift mutations?

    <p>Premature stop codon formation (D)</p> Signup and view all the answers

    Which nucleotide change leads to the creation of a stop codon in the genetic code?

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

    What is the function of alternative splicing mutations?

    <p>Generate multiple mRNA transcripts from a single gene (A)</p> Signup and view all the answers

    What type of mutation causes amino acid substitutions?

    <p>Missense mutation (B)</p> Signup and view all the answers

    What is the main purpose of genome-wide association studies?

    <p>To identify traits associated with genetic variants (B)</p> Signup and view all the answers

    What is the goal of the COVID-19 Genomics UK (COG-UK) Consortium?

    <p>Deliver large-scale and rapid whole-genome virus sequencing for managing COVID-19 outbreak (B)</p> Signup and view all the answers

    Which project is responsible for providing genome sequences to the UK government to help manage COVID-19?

    <p>COVID-19 Genomics UK (COG-UK) Consortium (C)</p> Signup and view all the answers

    What term describes identifying new genetic variants and informing actions in response to an outbreak?

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

    Which of the following is NOT a model organism mentioned in the text?

    <p>Haemophilus influenzae (D)</p> Signup and view all the answers

    What is the main purpose of comparative genomics projects mentioned in the text?

    <p>Mapping human homologs to understand inherited diseases (A)</p> Signup and view all the answers

    What suffix indicates a field that focuses on changes 'on top of genomics'?

    <p>-Epigenetics (D)</p> Signup and view all the answers

    What is the role of DNA methylation in epigenetics?

    <p>Preventing genes from being switched on (A)</p> Signup and view all the answers

    How does histone acetylation affect gene expression?

    <p>Accelerates binding of transcription factors (D)</p> Signup and view all the answers

    What is the impact of turning off genes that regulate cell growth and division?

    <p>Accelerates cell division (C)</p> Signup and view all the answers

    How does genomic imprinting differ from typical gene expression?

    <p>Involves selective silencing of either parental copy (C)</p> Signup and view all the answers

    In what way do drugs targeting epigenetic modifications help in treating cancer?

    <p>Remove or prevent epigenetic modifications (B)</p> Signup and view all the answers

    What is the significance of non-coding microRNAs in epigenetics?

    <p>Bind and target mRNAs for degradation (C)</p> Signup and view all the answers

    How do epigenetic changes impact the adaptability of cells to their environment?

    <p>Allow cells to respond and adapt to changes (D)</p> Signup and view all the answers

    What is the main function of genomic imprinting?

    <p>Silence one copy of a gene based on parental origin (A)</p> Signup and view all the answers

    How do epigenetic changes aid in understanding cancers?

    <p>By displaying different patterns in cancer cells (B)</p> Signup and view all the answers

    What role do histone modifications play in regulating gene expression?

    <p>Regulating chromatin structure (C)</p> Signup and view all the answers

    What is the main focus of Genetics?

    <p>Investigating the role of genes in inheritance (D)</p> Signup and view all the answers

    Which field primarily focuses on variations in genes to determine the cause of health conditions?

    <p>Pharmacogenetics (B)</p> Signup and view all the answers

    What is the primary focus of Genomics?

    <p>Examining an organism's genome (D)</p> Signup and view all the answers

    Which field involves the study of an organism's genome and its application?

    <p>Pharmacogenomics (C)</p> Signup and view all the answers

    What does Proteomics primarily focus on?

    <p>Studying proteins and their functions (B)</p> Signup and view all the answers

    Which field involves studying the study of genes and their roles in inheritance?

    <p>Genetics (D)</p> Signup and view all the answers

    What is the main function of proteins in the human body?

    <p>Maintain cell structure and function (B)</p> Signup and view all the answers

    Which type of diseases are caused by multiple genetic variants and environmental factors?

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

    What is the primary cause of atherosclerosis according to the text?

    <p>Lipid metabolism and artery vessel wall structure (C)</p> Signup and view all the answers

    Which research study led to the first sequence of the human genome?

    <p>The Human Genome Project (C)</p> Signup and view all the answers

    Why was the genome sequence from the Human Genome Project not from a single person?

    <p>To protect participants' privacy (D)</p> Signup and view all the answers

    Which type of inheritance is characterized by multiple sets of alleles causing a disease?

    <p>Autosomal Dominant Inheritance (A)</p> Signup and view all the answers

    What is the primary role of the Human Genome Project?

    <p>Sequence the human genome (A)</p> Signup and view all the answers

    What is the main focus of the Telomere-to-Telomere (T2T) consortium as mentioned in the text?

    <p>Completing the first truly complete human genome sequence (B)</p> Signup and view all the answers

    What was one of the major advancements mentioned in human DNA sequencing thanks to the Human Genome Project?

    <p>Developing the Sanger DNA sequencing method (A)</p> Signup and view all the answers

    Which project provided the basis for whole genome-wide association studies (GWAS) according to the text?

    <p>The HapMap Project (D)</p> Signup and view all the answers

    What makes next-generation sequencing technology exciting according to the text?

    <p>It allows for sequencing an organism's whole genome quickly and cheaply (D)</p> Signup and view all the answers

    Which project aimed to map genetic variants in the human genome appearing at least at 1% frequency according to the text?

    <p>The 100,000 Genome Project (C)</p> Signup and view all the answers

    What was a significant outcome of the Human Genome Project according to the text?

    <p>Exceeding its initial set of goals ahead of schedule (B)</p> Signup and view all the answers

    What is one common feature between the Human Genome Project and the HapMap Project?

    <p>Both focused on mapping genetic variants in different populations (A)</p> Signup and view all the answers

    Why is reading a person's whole genome considered a huge task?

    <p>It amounts to around 200GB of data (C)</p> Signup and view all the answers

    Which project focused on creating a human genome-wide haplotype map?

    <p>The HapMap Project (A)</p> Signup and view all the answers

    What was one of the aims of the 100,000 Genome Project according to the text?

    <p>To identify SNP frequencies and haplotypes in different populations (B)</p> Signup and view all the answers

    Study Notes

    Introduction to Genomics

    • Genomics is the study of genes and their roles in inheritance, focusing on variations in genes that determine the cause of a health condition.
    • The human genome contains approximately 20,000 coding genes, which are the DNA loci that "code" for a "trait".
    • Chromatin is composed of DNA and histones, and chromosomes are made up of 2N (diploid) pairs, with 23 pairs of chromosomes in total, including 22 pairs of autosomes and 1 pair of sex chromosomes.

    Genomic Variation

    • Genomic variation reflects the differences in a person's DNA compared to other people's DNA.
    • There are multiple types of variants, ranging from small differences to large differences.
    • Structural chromosomal changes include deletion, duplication, inversion, insertion, and translocation variants.
    • Single Nucleotide Polymorphism (SNPs) are genetic variations between individuals at individual nucleotides, with approximately 1 in 1000 bases within the human genome showing variation.

    Non-Coding DNA

    • Non-coding DNA (or "dark DNA") corresponds to parts of the genome that do not code for amino acids.
    • Only 2% of the human genome encodes proteins, while the remaining 98% of the genome is non-coding.
    • Newer studies have shown that 80% of our DNA shows some degree of activity and could have a purpose.
    • Non-coding DNA sequences have known functional roles, including regulating gene expression, maintaining and protecting the structure of the genome, and directing the production of RNA molecules.

    Bioinformatics

    • Bioinformatics is an interdisciplinary field that develops methods and software tools for understanding biological data.
    • Bioinformatics was essential to the overall success of the Human Genome Project.
    • The field has established facilities for collecting, storing, organizing, interpreting, analyzing, and communicating genomic data.

    The "Omics" Revolution

    • The suffix "-ome" comes from the Greek for "all", "every", or "complete".
    • Omics refers to the collective technologies used to characterize and quantify pools of biological molecules.
    • The "omics" revolution has led to the development of various fields, including genomics, transcriptomics, proteomics, and metabolomics.

    Human Genomic Variation

    • Human genomic variation is the study of the differences in a person's DNA compared to other people's DNA.
    • The study of human genomic variation has identified genetic variants associated with specific traits or conditions.
    • Genome-wide association studies (GWAS) have identified genetic variants for diseases such as type-2 diabetes, rheumatoid arthritis, and osteoporosis.

    Model Organisms and Comparative Genomics

    • Model organisms are species that are studied to understand biological processes and diseases.
    • Comparative genomics projects have identified many novel genes and have been of vital importance in the Human Genome Project.
    • Examples of model organisms include E. coli, yeast, C. elegans, D. melanogaster, M. musculus, and R. norvegicus.

    Epigenetics

    • Epigenetics is the study of heritable changes in gene function that occur without a change in the underlying DNA sequence.

    • Epigenetics is often referred to as "on top of" genomics because it focuses on the modifications to the genome that can affect gene expression.

    • Epigenetics plays a crucial role in the development and differentiation of cells, and is essential for understanding the diversity of cells in the human body.### Epigenetics

    • Epigenetics affects gene regulation without changing the DNA sequence, influencing when genes are turned on and off, and which proteins are produced.

    • Epigenetics can control the structure of the genome, relaxing tightly packed chromosomes to allow factors controlling gene expression to access genes.

    • Epigenetic modifications are mostly transient and reversible, but can also be inherited, enabling cells to respond and adapt to environmental and behavioral changes.

    Epigenetics and Environment

    • Epigenetics can be influenced by external factors, such as diet, lifestyle, and stress.
    • During pregnancy, the epigenome of a developing baby can be influenced by the expectant parent's lifestyle.

    Types of Epigenetic Modifications

    • DNA Methylation: associated with switching genes off, by attaching a methyl group to a region near the start of a gene.
    • Histone Modification: regulates gene expression through chromatin remodeling, including acetylation, methylation, and phosphorylation.
    • Non-coding microRNAs (miRNA): bind and target mRNAs for degradation, leading to gene regulation.

    Epigenetics and Cancer

    • Nearly all cancers display different epigenetic patterns compared to typical, healthy cells.
    • Epigenetic modifications, such as methylation profiles, can help grade cancer stages and track disease progression.
    • Some genes produce proteins that stop cell growth and division, and epigenetic silencing of these genes can lead to cancer development.
    • Epigenetic-targeting drugs are used to treat cancer, either by removing or preventing epigenetic modifications.

    Genomic Imprinting

    • Genomic imprinting is an epigenetic phenomenon where some epigenetic markers are passed on from parents to offspring, leading to the "parent of origin" effect.
    • Imprinting occurs during gametogenesis, resulting in the silencing of either the maternal or paternal copy of a gene.
    • At least 80 human genes are known to be imprinted, and the regions are known as differentially methylated regions (DMRs).

    Genetics vs. Genomics

    • Genetics: the study of genes and how they are inherited, focusing on variations in gene(s) to determine the cause of a health condition.
    • Genomics: the study of an organism's genome, including both coding and non-coding regions, and applying this information to understand biological processes.

    Human Genome Project

    • The Human Genome Project was a large, international collaborative effort that generated the first sequence of the human genome.
    • The project involved thousands of researchers, multiple universities, and research centers across the US, UK, France, Germany, Japan, and China.
    • The project was a successful example of "big science" in biomedical research, producing a genome sequence that accounted for over 90% of the human genome.

    Next-Generation Sequencing

    • Next-generation sequencing technology allows for rapid and affordable whole genome sequencing.
    • The technology generates a vast amount of data, with sequencing one person's whole genome amounting to around 200GB.
    • Whole genome sequencing has applications in healthcare, enabling personalized medicine and disease diagnosis.

    The Human Genome Project Moving Forward

    • The Human Genome Project contributed to the creation of the HapMap Project and 1000 Genomes Project, which facilitated whole genome-wide association studies (GWAS).
    • The 100,000 Genome Project was launched in the UK in 2012, aiming to sequence 100,000 genomes to improve disease diagnosis and treatment.

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    Explore the distinctions between genetics, genomics, pharmacogenetics, and pharmacogenomics in the context of medical tools and personalized medicine. Learn about genetic risk factors, epigenetics, and approaches to rare diseases.

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