LA 1-5 Flashcards

1
Q

Found within the physical upstream and downstream boundaries of the gene they help regulate

A

Cis-acting elements

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2
Q

4 characteristics of autosomal recessive inheritance

A
  • 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
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3
Q

The probability that a person who has a genotype sufficient to cause disease will actually manifest the disease

A

Penetrance

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4
Q

TATA/GC/CAAT box are all ________ sequences common to most genes

A

core

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5
Q

An alternate form of a gene

A

Allele

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6
Q

When different signs and symptoms occur between people with the same genetic disease

A

Variable expressivity

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7
Q

Prothrombin mutation mechanism

A

Mutation causes more stable PT mRNA = more PT synthesized = levels build up

Excess PT can lead to increased thrombin generation, continued clot formation

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8
Q

rRNA, tRNA, snRNA, siRNA are all known as _______ RNA

A

functional

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9
Q

Chemical group associated with HYDROGEN bonding

A

OH

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10
Q

Time-specific gene expression is called?

A

Temporally-restricted gene expression

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11
Q

HFE genotype with:

  • 2nd highest genetic risk of developing HH
  • Phenotype more mild than p.C282Y homo
A

p.C282Y / p.H63D in trans

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12
Q

Establishes the ‘reading frame’

A

Methionine

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13
Q

Another term for non-translated gene + examples

A

Functional RNA

rRNA, tRNA, siRNA, miRNA

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14
Q

FVL mutation mechanism

A

Inhibits FVa inactivation (Factor Va resistant to inactivation by APC)

Factor Va has longer half-life => can continue to promote clotting process

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15
Q

Coded for by distantly located genes

  • Could be on the same chromosome as the gene it regulates
  • Could be on an entirely different chromosomes
A

Trans-acting regulatory proteins

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16
Q

This is usually located 400 bp upstream of the 1st exon

A

Gene promoter

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17
Q

2 non-genetic risk factors increasing the risk of females having FVL-associated VT

A
  • pregnancy

- oral contraceptive use

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18
Q

2 other words for the top strand

Which primer binds?

A

Coding/sense. Reverse

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19
Q

Greater change in Tm when _______ (shorter/longer) probes are used

A

shorter

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20
Q

When different signs and symptoms occur between people with the same genetic disease

A

Variable expressivity

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21
Q

Key primer design feature for ARMS PCR

A

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

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22
Q

2 other words for the bottom strand

A

Template/antisense. Forward

23
Q

When the same disease phenotype can result from mutations at more than one gene locus

A

Locus heterogeneity

24
Q

Role of Factor V?

A

Activated Factor V (pro-coagulant) works with activated Factor X (FXa) to form prothrombinase complex required to convert prothrombin to thrombin

25
3 post-transcriptional modifications
3' polyA tails 5' capping Splicing out introns
26
Relative strengths of types of bonds that can occur between aa side chains for tertiary or quaternary structure formation?
Covalent > ionic > hydrogen > hydrophobic
27
Amino acid change causing FVL mutation?
p.R506Q (Arginine -> Glutamine)
28
Cis-acting gene regulatory sequence from which transcription is initiated
Promoter
29
mRNA is complementary to which DNA strand of a gene
Template/antisense Coding strand == mRNA sequence
30
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
31
2nd most common causes of inherited thrombophilia
PT20210 mutation
32
Chemical group involved in HYDROPHOBIC association?
CH3
33
Enzyme is used to generate a primary transcript of a DNA template
RNA polymerase
34
When different mutations of a gene can lead to phenotypic variation of the same disease
Clinical heterogeneity
35
Usually affects disorders that have an autosomal dominant pattern; occasionally seen in autosomal recessive disorders
Penetrance
36
The HH type that is autosomal dominant
Type 4 (SLC40A1)
37
Where translation takes place
Cytoplasm
38
The structure a peptide adopts through HYDROGEN bonding between atoms of its peptide linkages
Secondary protein structure
39
Where transcription takes place
Nucleus/mitochondrion
40
Role of Factor II (prothrombin/PT)?
Precursor to thrombin (Factor IIa = pro-coagulant) which then helps convert fibrinogen to fibrin
41
Most common form of inherited thrombophilia
FVL mutation
42
What does 'ARMS' in ARMS PCR stand for
Amplification refractory mutation system
43
Leads to decreased sex hormones = impotence in males, no menstruation in females
Type 2 hemochromatosis
44
Amino acid substitution in p.H63D mutation
Histidine (H) replaced with aspartic acid (D)
45
Cell-specific gene expression is called?
Spatially-restricted gene expression
46
Type of bond formed when 2 SH groups react
Covalent bond
47
Post-transcriptional modification that helps prevent degradation by RNases
3' polyA tail
48
Word for abnormal chromosome number
Aneuploidy
49
AG and CT (purine to purine or pyrimidine to pyrimidine) are examples of?
Nucleotide transitions
50
Why are nucleotide transitions more frequent?
Chemically easier to occur
51
AKA silent mutation
Synonymous mutation
52
2 examples of non-synonymous mutations
Nonsense and missense
53
2 types of missense mutations
Conservative and non-conservative