The Human genome project Flashcards
What are the four types of genetic variation between people
SNPs single nucleotide polymorephisms:
Indels:
short tandom repeates:
Copy number variations:
what is a SNP and what does it change
It is a single nucleotide variation which is in more than 1% of the population
Mostly inherited from maternal and paternal
some unique
can give information of drug effectiveness or relations
linked SNPs: inherited but doesnt affect protein
non-coding snps: can affect protein production
coding snps: change cause changes in amino acids
Describe an indel
indels are short deleations or duplications of the DNA.
can be linked to genetic dieases and are the second most common genetic varient
more likley to cause a phenotipic change as impacts more nucleotides
Short tandom repeates
short sections of DNA which repeate.
are in both alleles however the number of repeating units is unique.
very unlikely to share all STR with someone else
Describe copy number varients
A copy number varient is a long strech of DNA around 500pb which differes from the base human genome, this be a deletion or duplications. can strech across multiple genes, only small number per person.
why was the human genome spequenced
identify all human genes and their roles
analize the genetic variation in the human genome
Release the findings to indiviuals and scientists
what processes were done before the human genome was sequenced
new technology was developed
simpler organisums DNA was sequensed
what is the key finings from the human genome project
humans are 99.9% identical to one annother
2%< of genes code for proteins
we are unaware of many protein functions
20,000 genes
20% of genes are introns
there are no human exclusive genes
What is the impact of diersity
Every diverse sequence adds to our knowlege of variation
what can variation show us between humans
Variation can give insite to, Drug effectivness, muscle type, ancestory(where u came from), direct relationship
