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Lecture 11

Lecture 11

3 Pages

Human Biology
Course Code
Maria Papaconstantinou

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2 MARCH 2011
HMB321 L11: Introduction to Molecular Genetics
*** Information from the book is on the final exam (i.e. Please finish that stupid book)
-Focus on:
-DNA sequencing methodologies (454, Sanger,
-Big names in DNA sequencing (Venter, Chan, Steffanson,
What is molecular genetics?
-Study of processes regarding the replication, translation of DNA into further products
Inactive DNA: Chromatin
-DNA is wrapped around nucleosome => wrapped into further chromatin structures
-Noncoding genes have more regulatory roles vs. Coding genes (usually proteins or products)
Selected major breakthroughs
-Inheritance (Mendel)
-Linkage (Morgan)
-See slides
Molecular Genetics & Disease
-Genetic diseases, e.g. Krabbe disease
-Knowing the sequence of gene can allow us to learn the function (genotype => phenotype
association), i.e. GALC -/- recessive
-Effects = less myelin production = lower development of baby
-Affliction displays low muscle tone
-Molecular genetics of viruses + other disease causing agents
-Chromosomal aberrations, e.g. Trisomy 21 (via nondisjunction or chromosomal translocations)
Isolation of DNA
-Homogenize tissue => lyse cells => remove proteins/RNA/debris ===> isolation ===> purification
-Primers anneal at a specific temperature (Tm) that are specific to the length/composition of primer
-Extension is often around 2min long (require primers, Taq polymerase + template strand of
DNA with DNTPs to create new strand) -- repeated several times with lag times in between
to ensure that the elongation process is being carried out to its necessary length
RT-PCR (Real Time: Quantitative)
-A way of counting how much products are produced
-Done via annealing a probe to your target sequence
-Primer displaces the probe; the probe’s promoter is displaced into the medium = allows
-The more PCR occurs = more broken probe reporters = quantify (via light analysis) how much
PCR made via how much fluorescence is found in media

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2 MARCH 2011HMB321 L11 Introduction to Molecular Geneticsis on the nal exam ie Please nish that stupid book Information from the book Focus onDNA sequencing methodologies 454 Sanger Big names in DNA sequencing Venter Chan Steffanson What is molecular geneticsStudy of processes regarding the replication translation of DNA into further productsInactive DNA ChromatinDNA is wrapped around nucleosomewrapped into further chromatin structuresNoncoding genes have more regulatory roles vs Coding genes usually proteins or productsSelected major breakthroughsInheritance MendelLinkage MorganHelixSee slidesMolecular GeneticsDiseaseGenetic diseases eg Krabbe diseaseKnowing the sequence of gene can allow us to learn the function genotypephenotype association ie GALCrecessiveEffectsless myelin productionlower development of babyAfiction displays low muscle toneMolecular genetics of viruses
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