Biology 2581B Lecture Notes - Lecture 12: Ethidium Bromide, Restriction Enzyme, Dna Profiling
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18 Apr 2016
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A polymorphic locus is one with two or more alleles, where each allele is present in more than 1% of the populations. The alleles of polymorphic loci are called genetic variations rather than wild types or mutants. Advanced sequence technologies allow the sequencing of complete genomes from individuals (e. g. single nucleotide substitutions and amino acid changes). Every individual within a species has genetic changes which are unique to them and those that they share with others. For example, most of the single nucleotide substitutions in the genomic region for the cystic fibrosis gene do not have any effect on function (only about 2% of the nucleotides in this region are part of coding sequences). The overall lengths of genomes differ as much as 1% between healthy individuals. The locus (plural loci) is any location within the genome that has a defined chromosomal location, irrespective of any function (includes coding and non-coding regions, whether short or long).
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