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Introduction to Genetics

The document provides an overview of medical genetics, including key reading materials and foundational concepts such as the different levels of genetics: transmission, molecular-developmental, and population-evolutionary. It highlights significant advancements in the field, such as the CRISPR/Cas9 technology and the complete sequencing of the human genome. Additionally, it discusses the role of nucleic acids, specifically DNA and RNA, in carrying genetic information within cells.

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3 views

Introduction to Genetics

The document provides an overview of medical genetics, including key reading materials and foundational concepts such as the different levels of genetics: transmission, molecular-developmental, and population-evolutionary. It highlights significant advancements in the field, such as the CRISPR/Cas9 technology and the complete sequencing of the human genome. Additionally, it discusses the role of nucleic acids, specifically DNA and RNA, in carrying genetic information within cells.

Uploaded by

eddyblay0243
Copyright
© © All Rights Reserved
Available Formats
Download as PDF, TXT or read online on Scribd
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MEDICAL GENETICS

[email protected]

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Reading Materials
• Human Molecular Genetics. (2018). Tom Strachan and Andrews Read.
Garland Science; 5th edition

• Lewin's GENES XII. (2017). JE Krebs, ES Goldstein and ST Kilpatrick.


Jones & Bartlett Learning; 12th edition

• Molecular Biology of the Gene. (2013). JD Watson, TA Baker, SP Bell, A


Gann, M Levine and R Losick. Pearson; 7th edition

• Molecular Biology of the Cell. (2014). B Alberts, AD Johnson, J Lewis, D


Morgan, M Raff, K Roberts and P Walter. W. W. Norton & Company, 6th
edition

• Molecular Cell Biology. (2016). H Lodish, A Berk, CA Kaiser, M Krieger, A


Bretscher, H Ploegh, A Amon, KC Martin. Macmillan Learning, 8th Edition
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Introduction to Genetics
• Genetics: study of rules that govern transmission of genetic information

• This occurs at three levels:


• Transmission genetics: transfer of genetic material from parent to offspring within families

• Molecular-developmental genetics: from DNA to gene action within and between cells

• Population-evolutionary genetics: transfer of genetic material in many generations within


populations of organisms

• What do you know???


– DNA
– Gene
– Allele
– Chromosome
– Genome
– Transcriptome
– Proteome
– Phenome 3
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2020: Emmanuelle Charpentier and Jennifer Doudna are awarded the Nobel Prize in Chemistry for discovering one of gene technology's sharpest tools: the CRISPR/Cas9
genetic scissors. 6
2023: Nurk et al (Telomere-to-Telomere [T2T] Consortium) publish the first complete, gapless sequence of a human genome.
DNA or genome sequences of these organisms are available and have revolutionized
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genetics and genomics
Nucleic Acids
• Nucleic acids (NAs) are essential biomolecules present in all living entities where
they serve as carriers of genetic information

• NAs contain information necessary for ordering amino acids in proteins

There are two forms of nucleic acid molecules:


• Deoxyribonucleic acid (DNA) - Storehouse or cellular library containing all
information necessary for building cells and tissues of an organism

• Ribonucleic acid (RNA) – mostly serve as copied information from DNA during
transcription

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Where in the cell are Nucleic acids located?
• In higher organisms, the nucleus contain genomic DNA

• In prokaryotes, the nucleic acids are boundless in the


cytoplasm

• Mitochondria and chloroplast contain extra maternally-


inherited genetic material

• Genetic material: why not carbohydrate, protein, lipid or


RNA?
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DNA: The Genetic Material
Griffith’s Experiment

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Avery, MacLeod and McCarty Experiment

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The Hershey–Chase experiment

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Central dogma of molecular genetics

Forbidden lines? 13

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