lecture 22 - human genome Flashcards
What were the aims of the 1990 human genome project?
Identify all human genes and their roles, and analyse genetic variation between humans and other species.
How many base pairs are found in nuclear DNA?
6 billion
How many genes are found in the human genome?
Approximately 20,000
What is the structure of mitochondrial DNA?
Single stranded, circular
How many base pairs are found in mitochondrial DNA?
approx. 16500
Where is mitochondrial DNA inherited from?
The mother exclusively
How many genes are found on mitochondrial DNA?
37
What percentage of genes code for proteins?
<2%
What percentage of genes are coding (exons)?
<2%
What percentage of the DNA sequence is introns (non-coding segments)?
20%
What percentage of the human genome has unknown function?
20%
What does SNPs stand for?
Single Nucleotide Polymorphisms.
What are SNPs?
Nucleotide sites that commonly vary within populations.
What distinguishes an SNP from a mutation?
If a particular combination has more than 1% prevalence in the population, it is considered at SNP.
What is the prevalence of SNPs in the human genome?
1 in 300 base pairs.