BIOS 1700 Lecture Notes - Lecture 33: Single-Nucleotide Polymorphism, Whole Genome Sequencing, Sickle-Cell Disease
6 Dec 2016
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Document Summary
Genetic variations" association to individual characteristics or phenotypes. How do we detect genetic (dna level) variations: whole genome sequencing (expensive and time consuming, detection of a variety of changes at the dna level. Vntr (variable number of tandem repeats: very short segments. Cnv (copy number variations: very long gene repeats. Vntr: variable number of tandem repeats. Have different numbers of a repeated sequence at a particular location on a chromosome: pcr based detection. The size difference is examined in gel electrophoresis to make a match between suspect and evidence dna: used in crime scenes. Presence or absence of restriction sites: sickle cell anemia. A allele vs. s allele in the beta globin gene: bau 36i restriction enzyme site is cctgaggag. Bau 36i recognizes the wild type allele: if there is base substitution (mutation), bau 36i won"t recognize the dna restriction site. Snps: single nucleotide polymorphisms, eye color depends on the oca2 gene.
