University:
University of Virginia
Course:
BIOL 1040 | The DNA Revolution in Science and Society
Academic year:

2024
Views:

245

Pages:

2
Author:

Kayli N.

Genetic Variation simple vs complex traits (ex. Height, diabetes) Mutant: every genetic variation is due to a mutation/change during evolution ● ● ● ● There is no wildtype (original) human, we are all mutants How people perceive disabilities as ableism, which changes social situation Costs and benefits Sickle Cell Amenia is common in Africa due to damage to Malaria resistant gene ● High IQ children are more likely to display bipolar symptoms later in life ○ Ex. Deaf parents wanted deaf child to fit into their deaf culture Types of Mutations 1. SNPS (Single Nucleotide Polymorphisms): numerous, mapping genes, ancestry a. ONE single nucleotide changes AKA snips (most common) 2. Small Insertions/deletions (Indels): insert/delete of nucleotides 3. Simple Sequence Repeats (SSRs) (Microsatellites): highly variable, DNA fingerprints, paternity, forensics a. a simple sequence that is repeated (ex. GATA repeatedly in same place in different genomes) b. Can be used in forensics as identification methods for detective work 4. Larger Structural Changes: Copy number variation in genes, large scale genome rearrangements (not necessarily cause a larger phenotype change) a. Deletion, Duplication, Inversion (invert of gene), Insertion, Translocation (gene moved to wrong location) How do we detect mutations/genetic variation? ● Start with a “reference” gene (not more important or one gene) ● Align the sequences using a computer to examine differences by putting the allele next to the reference to get a consensus read ○ Problem: Structural variation is more difficult because if there are some alleles not found in one, it just deletes them so we can’t see/wrong place, which causes the genome to look like reference but its incorrect ○ Solution: longer sequencing reads and assemble novo (again from new) ■ Uses the consensus read and reads it again from de novo assembly to recognize asertions/deletions that discovers the structural variation The Pangenome: reference genome including structural variation in genomes and reference genome to detect important genetic variation in diverse sample of humans ● Ex. AGGT gene found in all genome or snip of gene where it is found in some or everyone have one thing but one has an insertion 5 million single-nucleotide variants, total amount of variants is 270 million and 88 snips but 99.4% of our genome is identical to the human genome where structural differences are most, then single nucleotides variants then insertions/deletions ● Genetic variations are rare, and some are inactive Take Home Messages ● Mutation and Genetic variation can be shown in many ways: appearance, disease, behavior, personality ● Mutant is a wild type and there is no wild type in humans or “normal” ● Genetic variation is natural and defines us so no good or bad judgement ● Tremendous amount of genetic variation in genome (SNPs, indels) that can applied to understand diff aspects of biology ● New genetic variation in genome is being uncovered constantly with new technologies to figure out how this variation matters ● Most of our genome is identical in sequence