BIOLOGY 2C03 Lecture 5: Week 5 - Genetic Markers

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Snp - single nucleotide polymorphism, is a single nucleotide di erence approx. 10 m in human genome and mostly present in non-coding area. Southern blotting restriction enzyme cut dna into small fragments gel electrophoresis of the dna fragments and then transferred to nitrocellulose membrane membrane exposed to uorescent labelled-hybridization probes and pattern visualized in lm. Once probe and target joined, they are detected by attaching a uorescent label so amount of target can be determined. 2 probes - one for wt and 1 for mutation, both means yellow (heterozygous) Dna microarray micro satellites also known as short tandem repeats (strs) Pcr ampli cation and gel electrophoresis detect micro satellites size of fragment depends on # of repeats. The relative location of genes or loci along a chromosome. 2 linkage map based on mapping data maps are colinear cytological map physical map based on staining data based on sequence data.

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