T2 Genome Variation Flashcards
How many base pairs are there in a diploid genome?
3x10^9
How many different base pairs do any two people have?
6x10^6 (0.1% genome)
how many mutations are there in each diploid human genome?
70 (+ w/ paternal age; x20 ++ in somatic cells)
Describe neutral variation
- small
- no obvious phenotype change
how much of our DNA is poorly conserved?
90%
what is the most abundant type of variation?
SNVs
What is the most common SNPs?
C –> T
Where do RFLPs occur?
target site for nuclease enzyme
What are CNVs?
large indels, sequences >100 nucleotides in length
What do intronic variants affect?
- regulation of transcription
- splicing
what do coding variants result in?
- missense
- nonsense
- silent
Why do simple repeats (VNTRs, STRs, SSRs) have poor call rates compared to non-repetitive DNA?
refractive to sequencing
How much of genome contributes to CNVs?
4.8-9.7%
what areas of chromosome show high prevalence of CNV?
- pericentromeric
- subtelomeric
which genes are least affected by CNVs?
genes associated with disease
which genes are most affected by CNVs?
paralogous genes
which gene involved in the inverse correlation between skin pigmentation and lattitude, favouring lighter skin to facilitate vitamin D synthesis far away from equator?
SLC24A5
what does FOXP2 regulate?
- neural motor control of oraficial regions
- vocalisation
where is most human genetic variation found?
within population
