Video Companion Slides Chen Polymorphism.pdf - Polymorphism Learning objectives • Identify the types of polymorphic markers and how they are genotyped

Video Companion Slides Chen Polymorphism.pdf - Polymorphism...

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Polymorphism Learning objectives Identify the types of polymorphic markers and how they are genotyped Describe how linkage studies using polymorphic markers identify the chromosomal locations of traits/phenotypes Outline the process of genotyping polymorphic markers or mutations in diagnostic testing Explain segregation of markers in X-linked disorders Describe the haplotype concept
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Types of polymorphic markers 1. Single nucleotide polymorphisms (SNPs) 2. Microsatellites 3. Variable number of tandem repeats (VNTR)
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3 Each ethnic group has a unique collection of SNPs Mostly 2 alleles (e.g. G or A, C or T, G or T etc.) Minor allele frequency >1% in population Maximum heterozygosity is 50% Millions throughout genome Spaced 200-1000 bp apart Very stable so they can be followed through generations Single nucleotide polymorphisms - SNPs allele 1 allele 2
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Individual SNPs can be followed by restriction endonuclease digestion 5’…….GAATTC……..3’ 3’…….CTTAAG……..5’ EcoRI 5’…….G AATTC……..3’ 3’…….CTTAA G……..5’ + - C A E B D A B C D E
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5’…….GAATTC……..3’ 3’…….CTTAAG……..5’ EcoRI 5’…….G AATTC……..3’ 3’…….CTTAA G……..5’ 5’…….GA G TTC……..3’ 3’…….CT C AAG……..5’ 5’…….GA G TTC……..3’ 3’…….CT C AAG……..5’
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