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Study notes for lecture 3

2 Pages
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Department
Human Biology
Course Code
HMB265H1
Professor
Stephen Wright

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Lecture 03: Molecular basis for genetic
polymorphisms and their detection
Mendelian traits are encoded in DNA
-Allelic differences at DNA level influence mRNA expression
and/or protein function, thus phenotype
-DNA mRNA protein organismal traits
Single nucleotide polymorphisms: alleles
-Nucleotide sequences differ in 1 place, by 1 nucleotide
Genotype: at DNA level
oNo dominance, recessiveness
oCodominance ??
o
Mutations: ultimate source of allelic variation
-Point mutations (AKA SNPs)
-Insert ions/deletions
-Changes in repeat number
-Chromosomal rearrangements
Mendelian traits encoded by proteins
-SNP change in 1 amino acid disrupts enzyme activity
Mendelian genes encode proteins
o
Detection of allelic polymorphisms
-Visualize allelic polymorphism
oAt DNA sequence level
-Levels from DNA to proteins detectable
-Involve 1 of
oElectrophoretic separation
oSelective PCR amplification
oSelective hybridization of polymorphic DNA
-Diploid nuclear genome as subject
Restriction fragment length polymorphisms
-SNP detection by Southern blot
Cleava ble amplified polymorphic sequences
-SNP detection by PCR
-Allelic variants differ in restriction sites
-PCR primers generated
oKnowing sequence on polymorphisms sides
oPCR amplicon spans restriction site
oPCR amplicon digested with specific restriction
endonuclease
oGel electrophoresis visualizes alleles
-Low cost, highly reproducible, simple method
oSmall amount of DNA needed
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Description
Lecture 03: Molecular basis for genetic polymorphisms and their detection Mendelian traits are encoded in DNA - Allelic differences at DNA level influence mRNA expression andor protein function, thus phenotype - DNA mRNA protein organismal traits Single nucleotide polymorphisms: alleles - Nucleotide sequences differ in 1 place, by 1 nucleotide Genotype: at DNA level o No dominance, recessiveness o Codominance ?? o Mutations: ultimate source of allelic variation - Point mutations (AKA SNPs) - Insertionsdeletions - Changes in repeat number - Chromosomal rearrangements Mendelian traits encoded by proteins - SNP change in 1 amino acid disrupts enzyme activity Mendelian genes encode proteins o Detection of allelic polymorphisms - Visualize allelic polymorphism o At DNA seq
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