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MDx 2 > LA 1-5 > Flashcards

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
Q

3 post-transcriptional modifications

A

3’ polyA tails
5’ capping
Splicing out introns

26
Q

Relative strengths of types of bonds that can occur between aa side chains for tertiary or quaternary structure formation?

A

Covalent > ionic > hydrogen > hydrophobic

27
Q

Amino acid change causing FVL mutation?

A

p.R506Q (Arginine -> Glutamine)

28
Q

Cis-acting gene regulatory sequencefrom which transcription isinitiated

A

Promoter

29
Q

mRNA iscomplementaryto which DNA strand of a gene

A

Template/antisense

Coding strand == mRNA sequence

30
Q

What is clinical penetrance?

A

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
Q

2nd most common causes of inherited thrombophilia

A

PT20210 mutation

32
Q

Chemical group involved in HYDROPHOBIC association?

A

CH3

33
Q

Enzyme is used to generate a primary transcript of a DNA template

A

RNA polymerase

34
Q

When different mutations of a gene can lead to phenotypic variation of the same disease

A

Clinical heterogeneity

35
Q

Usually affects disorders that have an autosomal dominant pattern; occasionally seen in autosomal recessive disorders

A

Penetrance

36
Q

The HH type that is autosomal dominant

A

Type 4 (SLC40A1)

37
Q

Where translation takes place

A

Cytoplasm

38
Q

The structure a peptide adopts through HYDROGEN bonding between atoms of its peptide linkages

A

Secondary protein structure

39
Q

Where transcription takes place

A

Nucleus/mitochondrion

40
Q

Role of Factor II (prothrombin/PT)?

A

Precursor to thrombin (Factor IIa = pro-coagulant) which then helps convert fibrinogen to fibrin

41
Q

Most common form of inherited thrombophilia

A

FVL mutation

42
Q

What does ‘ARMS’ in ARMS PCR stand for

A

Amplification refractory mutation system

43
Q

Leads to decreased sex hormones = impotence in males, no menstruation in females

A

Type 2 hemochromatosis

44
Q

Amino acid substitution in p.H63D mutation

A

Histidine (H) replaced with aspartic acid (D)

45
Q

Cell-specific gene expression is called?

A

Spatially-restricted gene expression

46
Q

Type of bond formed when 2 SH groups react

A

Covalent bond

47
Q

Post-transcriptional modification that helps prevent degradation by RNases

A

3’ polyA tail

48
Q

Word for abnormal chromosome number

A

Aneuploidy

49
Q

AG and CT (purine to purine or pyrimidine to pyrimidine) are examples of?

A

Nucleotide transitions

50
Q

Why are nucleotide transitions more frequent?

A

Chemically easier to occur

51
Q

AKA silent mutation

A

Synonymous mutation

52
Q

2 examples of non-synonymous mutations

A

Nonsense and missense

53
Q

2 types of missense mutations

A

Conservative and non-conservative

MDx 2 (6 decks)

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