Personalized Medicine Flashcards
Heritability:
If a trait is completely due to genetics, you’ll have h2 = _
If a trait is not due to heritability, you’ll have h2= _.
If the variability of the trait is determined chiefly by environment, the variance within pairs of DZ twins will be ____ to that seen within pairs of MZ twins.
Equation: h2 = ______/______
Heritability:
If a trait is completely due to genetics, you’ll have h2 = 1
If a trait is not due to heritability, you’ll have h2= 0
If the variability of the trait is determined chiefly by environment, the variance within pairs of DZ twins will be SIMILAR to that seen within pairs of MZ twins.
Equation: h2 = VARIANCE IN DZ PAIRS - VARIANCE IN MZ PAIRS/
VARIANCE IN DZ PAIRS
Incomplete penetrance is when you can ______, but ______.
Causes of incomplete penetrance: ____, ____, _____, _______
Incomplete penetrance is when you can HAVE THE MUTATION, but DON’T EXPRESS PHENOTYPE.
Causes of incomplete penetrance: IMPRINTING, ENV FACTOR, EPIGENETICS, GENETIC BACKGROUND FROM OTHER LOCUS
Differential expressivity is when you have ______, but _____.
Example: ______
Differential expressivity is when you have SAME MUTATION IN SAME LOCUS, but DIFFERENT SEVERITY OF DISEASE.
Example: HOLOPROSENCEPHALY
Genetic linkage is found when ______ to find specific ______ that’s present in _______.
Genetic linkage is found when THE GENOME IS SEQUENCED to find specific POLYMORPHISMS that’s present in ALL INDIVIDUALS THAT HAVE THE DISEASE.
Hirschprung’s Disease is a _____ defect for cells that go on to form the _______.
Mutation in ______ receptor needed for _____ migration.
Also can have mutation in _____, the ligand for the receptor.
Can also have mutation in _____ and ___.
Does not follow simple recessive or dominant inheritance pattern. Males __x more likely than females.
Only _ regions of the genome were concordant for siblings with the disease.
Hirschprung’s Disease is a NEURAL CREST defect for cells that go on to form the NEURONS FOR ENTERIC SYSTEM.
Mutation in RET-TK receptor needed for NEURAL CREST migration.
Also can have mutation in GDNF, the ligand for the receptor.
Can also have mutation in EDNRB and EDN3.
Does not follow simple recessive or dominant inheritance pattern. Males 2x more likely than females.
Only 3 regions of the genome were concordant for siblings with the disease.
Common v. Rare Variants:
Common variants are less ____ risk but more ___ risk. Common variants are _____ to cause disease, they must interact with _____ to push past threshold.
Certain alleles segregate with _____ _____ that causes risk.
Rare variants are more ____ risk and less ____ risk.
Common v. Rare Variants:
Common variants are less INDIVIDUAL risk but more POPULATION risk. Common variants are NOT SUFFICIENT to cause disease, they must interact with ENVIRONMENT to push past threshold.
Certain alleles segregate with CERTAIN ETHNICITIES that causes risk.
Rare variants are more INDIVIDUAL risk and less POPULATION risk.
Details behind GWAS:
- SNP’s are ____ as ____.
- Create panels with tagged ____ for each bin.
- Recruit 10’s of thousands of individuals with disease.
- Isolate ____ and ____ individuals for whole genome.
- Do ___ analysis; identify ____ co-inherited with disease
- Performed on many diseases, multiple times
Details behind GWAS:
- SNPs are CO-INHERITED as BINS.
- Create panels with tagged SNPs for each bin.
- Recruit 10’s of thousands of individuals with disease.
- Isolate DNA and GENOTYPE individuals for whole genome.
- Do STATISTICAL analysis; identify SNP ALLELES co-inherited with disease
- Performed on many diseases, multiple times
Conclusion from ENCODE Project:
A substantial proportion of variants are annotated as having predicted ____ ____ in the _____ category.
Conclusion from ENCODE Project:
A substantial proportion of variants are annotated as having predicted FUNCTIONAL EFFECTS in the NON-CODING category.
How to analyze DNA for epigenetic factors:
Step 1: _______ of ___-DNA from different individuals and ____ to DNA.
-Degree of _____ indicates methylation status of DNA.
- Methylation of particular DNA residues can be determined by ______ _____.
How to analyze DNA for epigenetic factors:
Step 1: IMMUNOPRECIPITATION of CH3-DNA from different individuals and HYBRIDIZE to DNA.
-Degree of HYBRIDIZATION indicates methylation status of DNA.
- Methylation of particular DNA residues can be determined by BISULFITE SEQUENCING.
