Flashcards in B2.013 Genomic Medicine in Primary Care Deck (21):
what is a SNP array analysis?
determines nucleotide at 600-1000k spots
0.03% of genome sequenced
what is a single nucleotide polymorphism?
one nucleotide change between two sequences
how many SNPs determine an ApoE variant?
are SNPs usually a direct determinant of disease?
which enzyme is associated with codeine conversion to morphine?
what are 3 types of codeine metabolism pathways?
major: codeine to codeine-6-glucuronide
secondary: codeine to norcodeine
minor: codeine to morphine
what is an n-of-1 trial?
treat patients and determine if a treatment is effective on a one to one basis, instead of overprescribing
what is trio exome sequencing?
patient + both parents
what is an exome?
protein coding part of the genome (1%)
how do you sequence an exome?
1. purify genomic DNA from blood
2. amplify protein coding regions
3. high throughput sequencing
4. computational variant analysis
5. clinical correlation
what does de novo mean?
the mutation is new in the patient (not inherited)
how does high throughput sequencing work?
sequence fragments by creating fluorescent markers for each nucleotide base, look at pattern of fluorescence at each location on the gene
what are sequences compared against?
human genome project templates
how many variants exist in a genome?
how many variants in an exome?
what are two filters for ignoring variants?
remove non-synonymous SNPSs (don't change amino acid)
remove previously known variants (occur frequently in population, probs not the source of the disease)
what is the N-terminal?
the beginning of a sequence
what is the C-terminal?
the end of a sequence
what is a conserved amino acid?
common between protein homologs
what is an amino acid with specificity?
not conserved among all homologs, but conserved within subgroups