LA 1-5 Flashcards
Found within the physical upstream and downstream boundaries of the gene they help regulate
Cis-acting elements
4 characteristics of autosomal recessive inheritance
- Affected usually born to phenotypically normal carrier parents
- Increased incidence of parental consanguinity
- Both sexes equally affected
- 25% chance that child of carrier parents will be homozygous for mutation and be affected
The probability that a person who has a genotype sufficient to cause disease will actually manifest the disease
Penetrance
TATA/GC/CAAT box are all ________ sequences common to most genes
core
An alternate form of a gene
Allele
When different signs and symptoms occur between people with the same genetic disease
Variable expressivity
Prothrombin mutation mechanism
Mutation causes more stable PT mRNA = more PT synthesized = levels build up
Excess PT can lead to increased thrombin generation, continued clot formation
rRNA, tRNA, snRNA, siRNA are all known as _______ RNA
functional
Chemical group associated with HYDROGEN bonding
OH
Time-specific gene expression is called?
Temporally-restricted gene expression
HFE genotype with:
- 2nd highest genetic risk of developing HH
- Phenotype more mild than p.C282Y homo
p.C282Y / p.H63D in trans
Establishes the ‘reading frame’
Methionine
Another term for non-translated gene + examples
Functional RNA
rRNA, tRNA, siRNA, miRNA
FVL mutation mechanism
Inhibits FVa inactivation (Factor Va resistant to inactivation by APC)
Factor Va has longer half-life => can continue to promote clotting process
Coded for by distantly located genes
- Could be on the same chromosome as the gene it regulates
- Could be on an entirely different chromosomes
Trans-acting regulatory proteins
This is usually located 400 bp upstream of the 1st exon
Gene promoter
2 non-genetic risk factors increasing the risk of females having FVL-associated VT
- pregnancy
- oral contraceptive use
2 other words for the top strand
Which primer binds?
Coding/sense. Reverse
Greater change in Tm when _______ (shorter/longer) probes are used
shorter
When different signs and symptoms occur between people with the same genetic disease
Variable expressivity
Key primer design feature for ARMS PCR
Common reverse primer directed to sequence that is the same regardless of which allele (normal or FVL) is present
Other 2 are forward primers which are identical EXCEPT for the very 3’ nucleotide
Lack of hybridization at the very 3’ end = can’t prime nucleotide extension by Taq
2 other words for the bottom strand
Template/antisense. Forward
When the same disease phenotype can result from mutations at more than one gene locus
Locus heterogeneity
Role of Factor V?
Activated Factor V (pro-coagulant) works with activated Factor X (FXa) to form prothrombinase complex required to convert prothrombin to thrombin
3 post-transcriptional modifications
3’ polyA tails
5’ capping
Splicing out introns
Relative strengths of types of bonds that can occur between aa side chains for tertiary or quaternary structure formation?
Covalent > ionic > hydrogen > hydrophobic
Amino acid change causing FVL mutation?
p.R506Q (Arginine -> Glutamine)
Cis-acting gene regulatory sequencefrom which transcription isinitiated
Promoter
mRNA iscomplementaryto which DNA strand of a gene
Template/antisense
Coding strand == mRNA sequence
What is clinical penetrance?
The likelihood a disease phenotype will show if the genetic conditions exist for the disease
75% penetrance if only 3 out of 4 people with Type 1 HH genotype actually show phenotype
2nd most common causes of inherited thrombophilia
PT20210 mutation
Chemical group involved in HYDROPHOBIC association?
CH3
Enzyme is used to generate a primary transcript of a DNA template
RNA polymerase
When different mutations of a gene can lead to phenotypic variation of the same disease
Clinical heterogeneity
Usually affects disorders that have an autosomal dominant pattern; occasionally seen in autosomal recessive disorders
Penetrance
The HH type that is autosomal dominant
Type 4 (SLC40A1)
Where translation takes place
Cytoplasm
The structure a peptide adopts through HYDROGEN bonding between atoms of its peptide linkages
Secondary protein structure
Where transcription takes place
Nucleus/mitochondrion
Role of Factor II (prothrombin/PT)?
Precursor to thrombin (Factor IIa = pro-coagulant) which then helps convert fibrinogen to fibrin
Most common form of inherited thrombophilia
FVL mutation
What does ‘ARMS’ in ARMS PCR stand for
Amplification refractory mutation system
Leads to decreased sex hormones = impotence in males, no menstruation in females
Type 2 hemochromatosis
Amino acid substitution in p.H63D mutation
Histidine (H) replaced with aspartic acid (D)
Cell-specific gene expression is called?
Spatially-restricted gene expression
Type of bond formed when 2 SH groups react
Covalent bond
Post-transcriptional modification that helps prevent degradation by RNases
3’ polyA tail
Word for abnormal chromosome number
Aneuploidy
AG and CT (purine to purine or pyrimidine to pyrimidine) are examples of?
Nucleotide transitions
Why are nucleotide transitions more frequent?
Chemically easier to occur
AKA silent mutation
Synonymous mutation
2 examples of non-synonymous mutations
Nonsense and missense
2 types of missense mutations
Conservative and non-conservative
