Intro Flashcards
What % of genome is repetitive sequence?
~50%
What the non-coding RNA’s?
- rRNA
- snoRNA
- miRNA
- piwiRNA
- IncRNA
What are miRNA?
21-23nt single stranded RNA Base pair with 3'UTR of mRNA fine tune translation Individual affect different mRNA 1881 human miRNA
What are long non-coding RNA?
14, 727 genes Roles in regulating gene expression Inhibitory antisense transcripts Platforms for assembly of multi protein complexes Role in nuclear structure
How many mitochondrial and Y ancestors does a person have?
1 of each
What are TADs?
Topological associating domains - basic structural unit of chromosomes
What are enhancers?
Promoter like sequences that are brought into contact with promoter due to DNA looping
Control tissue specific expression
What is a mutation?
A change
A rare change
Disease causing
What is a polymorphism?
Non disease causing or change found at frequency higher than 1%
What is mutation rate per generation?
How many SNP/s arise over generation?
1*10-8
70 new SNP (mostly paternal in origin)
What is autosomal dominant inheritance?
Verizon pattern; multiple generations affected
Usually one affected parent
What is autosomal recessive inheritance?
Horizontal pattern (sibling affected or no history) Subsequent sibling has 1 in 4 chance In consanguineous families may say affected individuals in multiple generations
What is X linked recessive inheritance pattern?
Knights move pattern - affected boys may have affected uncles
No father to son transmission
Females carriers - sons have 1in2 chance of disease and daughters have 1in2 chance of carrier status
What is X linked dominant inheritance?
Daughters of affected males are affected - but not their sons
Often milder condition and more variable in females than males
What is mitochondrial inheritance pattern?
Vertical pattern
Children of affected males not affected
All children of infected females affect - but is highly variable
What is y linked inheritance pattern?
Vertical pattern
All sons of affected males affected
Only affects males
When does hardy Weinberg not work?
Consanguinity
What is Bayes Theroem?
Calculated likelihood of an event happening
Combines information from different sources
Modifies the probability of an outcome
What are used in Bayes Theroem?
Per risk
Conditional risk
Joint risk (prior*conditional)
Final risk (joint of X/ joint of X + joint of y)
What is the prior risk?
Population risk or increased risk due to family history
What state is usually associated to the conditional likelihood,
Unaffected
What are dichotomous characters?
Can draw pedigree as affected or non-affected but it will not fir mendelian pattern
What is linkage disequilibrium?
Occurrence in members of a population of combinations of linked genes in non p-random proportions
What is the HapMap project?
Project to explore patterns of linkage disequilibrium in different world populations
Showed existence of haplotype blocks - short blocks of strong linkage disequilibrium
What are GWAS studies?
Genome-wide association studies
Examination of genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait
Only detect common variants (5% or greater)
What is the ACCE framework?
Assess value of a test
1) analytical validity
2) clinical validity
3) clinical utility
4) ethical, legal and social aspects
How can GWAS data be useful?
1) help make screening protocols better targeted
2) suggest novel targets of drug development
3) identify subsets of the disease that would benefit from differential management
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