L-22 Flashcards
When did the human genome project begin?
1990
What was the aim of the human genome project?
- identify all human genes and their roles
- analyse genetic variation between humans
- sequence the genomes of many model organisms used in genetics
- develop new sequencing techniques and computational analysis
- to share genome information with scientists and the general public as fast as possible
What are the key findings of the human genomes:
- there are fewer genes than expected
- less than 2% of our genome codes for proteins
- the genome is dynamic
- we still don’t know what many of our protein coding genes do
- most human genes are related to those of other animals
- all humans are 99.9% similar at the sequence level
- less than 2% of genetic material is exons
- 20% of genetic material is introns
- we have approximately 20000 genes
- 20% of genes have unknown functions
What does SNP stand for
Single nucleotide polymorphisms
What are SNPs?
Sites in the DNA that commonly vary within populations
How many SNPs are in the genome?
1.9 million
What proportion of nucleotides are SNPs
1/300
Where determines the SNP’s of an individual?
Their parent’s
What do SNPs do?
Usually nothing but can be used for sequencing genome things
What can analysing common variants of SNPs do?
- who you are related to
- where your ansestors came from
- risk of disease
- muscle type
- how you might respond to drugs
- can be used in crime solving
What does STR stand for?
Short tandem repeats
What are STRs?
Repeats of 2-5 nucleotides found in specific regions of the genome
Can homologous chromosomes have different lengths of STRs?
Yes because each person inherits one allele from each parent
What can STR (lengths) be used for?
- create genetic profiles
- “DNA fingerprints” specific to each person
What are InDels?
Small insertions or deletions in the genome
