L22 Flashcards
What were the aims of the human genome project?
-identify all human genes
-Analyse genetic variation
-develop sequencing techniques
-share information with people
What is a genome?
Complete set of DNA of organism
What are key findings of the human genome?
-Fewer genes than expected
-we dont know what many of our protein codings do
-most human genes are related to those of other animals
-Genome is dynamic
percentage wise how similar are two humans?
99.9%, the 0.1% is variation
What is are SNPs?
-Single nucleotide polymorphism
-Variation in a single base pair
-inheritable
analyzing common variants (genotyping) can tell you what?
-Who you are related to
-where some of your ancestors came from
-Disease risk
What are linked SNP’s?
SNP close to regulatory sequence which has no effect on protein production or function
What are non coding SNP’s?
-SNPs in regulatory sequence, could change the amount of protein produced
What are coding SNP’s?
-SNPs in coding region that can change amino acid sequence
What are the two causative SNP’s?
SNP’s within the gene
What are STR’s?
-Short tandem repeats
-repeats of 2-5 nucleotides, found in specific regions of genome
What are Indels and how do they cause variation?
Small insertions or deletions
As codons are read in 3, adding or deleting will make reading all jumbled (frame shift)
What CNV’s?
Copy number variations
Chunks of DNA can be deleted or duplicated
what can knowledge of variation be used for?
Diagnose genetic disease, determine most suitable drugs, determine close relatives or species origin
What are the 4 types of variation?
SNP’s, STRs, InDels, CNVS
How many human protein coding genes are there
almost 2000, and less than 2% of the genome codes for proteins
