Molecular Genetics 5

Molecular Genetics 5 - Molecular genetics V Molecular...

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Molecular genetics V 10/30/08 Francke 5 1 10/29/08 HumBio2A Molec.Genetics V 1 • How is DNA amplified for analysis? • How is DNA sequencing done? • What are the consequences of un- repaired DNA? – Somatic mutations – Germline mutations Molecular Genetics V Mutations: Detection, Types and Consequences 10/29/08 HumBio2A Molec.Genetics V 2 Pseudouridine in RNA: what, where, how, and why. Charette M, Gray MW. IUBMB Life. 2000 May;49(5):341-51 “Pseudouridine ( Ψ = 5-ribosyluracil) is ubiquitous in structural RNAs (transfer, ribosomal, small nuclear, and small nucleolar). Function: Through its unique ability to coordinate a structural water molecule via its free N1-H, Ψ exerts a subtle but significant "rigidifying" influence on the nearby sugar- phosphate backbone and also enhances base stacking. Genetic mutants lacking specific Ψ residues in tRNA or rRNA exhibit difficulties in translation, display slow growth rates, and fail to compete effectively with wild-type strains in mixed culture. Pseudouridylation of RNA confers an important selective advantage in a natural biological context” Question about Ψ > pseudouridine 10/29/08 HumBio2A Molec.Genetics V 3 Consequences of Un-repaired DNA Damage Somatic cell : Essential gene knocked out - Cell dies Growth suppressor gene knocked out - Cancer Immune function gene altered - Autoimmune disease None of these changes are passed on to next generation Germ cell: Gonadal stem cells (Oogonia/ spermatogonia) New mutations in egg or sperm Methods used to detect such mutations de novo mutations causing genetic disorders in offspring
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Molecular genetics V 10/30/08 Francke 5 2 10/29/08 HumBio2A Molec.Genetics V 4 Copies of DNA sequences can be made by the PCR technique PCR is a cyclical process: • DNA fragments are denatured by heating • Two DNA primers, plus nucleotides and DNA polymerase, are added • New DNA strands are synthesized Polymerase Chain Reaction (PCR) 10/29/08 HumBio2A Molec.Genetics V 5 05_02.jpg 10/29/08 HumBio2A Molec.Genetics V 6 05_02_2.jpg
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Molecular genetics V 10/30/08 Francke 5 3 10/29/08 HumBio2A Molec.Genetics V 7 05_02_3.jpg 10/29/08 HumBio2A Molec.Genetics V 8 PCR results in many copies of the DNA fragment — referred to as amplifying the sequence. Primers are 15–20 bases, made in the laboratory. Fragments of several 1000 nucleotides can be amplified PCR Amplification DNA polymerase that can survive high temperatures (90°C) was taken from a hot springs bacterium, T hermus aq uaticus (= Taq polymerase) 10/29/08 HumBio2A Molec.Genetics V 9 First publication on PCR Science. 1985 Dec 20:1350-4.
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Molecular Genetics 5 - Molecular genetics V Molecular...

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