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POD Test Two > Genetic Lecture > Flashcards

Genetic Lecture Flashcards

1
Q

Excessively salty sweat is a symptom??

A

Cystic fibrosis

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2
Q

Define genetics

A

Determined or influenced by gene(s)

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3
Q

Define genetic disease

A

Disease or disorder that is inherited genetically

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4
Q

What are major areas of genetics?

A

Transmission Genetics
Population genetics (polymorphism)
Quantitative genetics

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5
Q

Define transmission genetics

A

Transfer of genetic information from gene to next generation

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6
Q

Define population genetics

A

Genetic diversity at the individual, population and species level

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7
Q

Define quantitative genetics

A

Genes results in distribution of phenotypic values

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8
Q

Define penetrance

A

The percentage of individuals carry an autosomal dominant gene and expressing the trait

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9
Q

Define variable expressivity

A

Variable expression of autosomal dominant trait in affected individuals

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10
Q

Define genetic hetweogeneity

A

Production of a given trait by different mutations at multiple loci

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11
Q

Define pleiotropism

A

Multiple end effects of a single mutant gene

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12
Q

Define polymorphism

A

Multiple allelic form of a single gene

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13
Q

What is gene regulation?

A

DNA –> pre-mRNA –> mRNA

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14
Q

What is alternative gene splicing?

A

Gene –> gene product

  • Single gene can create multiple proteins due to alternative splicing
  • Gene consist of exons and introns, mRNA consists of exons
  • From a single gene it can produce multiple forms of mRNA (it can transcribe multiple forms of mRNA due to alternative splicing)
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15
Q

What is gene activation?

A

New synthesis, dissociation, modification, ligand binding

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16
Q

What is gene inactivation?

A

Competition (change affinity or have excess of substrate, competitor competes with substrate)
Squelching
Quenching (decreasing activity or slowing down)
Direct

17
Q

What is microRNA?

A

Translational repression

18
Q

Define dicer

A

dices dsRNA to little RNA or miRNAs

19
Q

What is small interfering RNA?

A

target mRNA cleavage

20
Q

What is transacting siRNA?

A

mRNA cleavage

21
Q

What is small-scan RNA?

A

DNA elimination

22
Q

What is repeat-associated siRNA?

A

Transcriptional silencing

23
Q

What is Piwi-interacting RNA?

A

Transposon control in germ cells

24
Q

Define mutation

A

Permanent changes in the DNA
Uncoded or unprogrammed changes
Relatively rare, unusual changes

25
Q

Define germ cell mutations

A

Transmitted to the progeny

- Transmitted leads to hereditary diseases

26
Q

Define somatic cell mutations

A

No transmitted

- Leads to disease such as cancer, congenital, malformation

27
Q

Define genome mutations

A

Loss or gain of chromosomes usually lead to death

28
Q

Define chromosome mutations

A

Rearrangement of genetic material

29
Q

Define gene mutations

A

Partial or complete deletion of a gene or affect a single base

30
Q

How do cells undergo new mutations?

A 
Mistakes during DNA copying
Cell division (spontaneous mutations or environmentally caused mutations)
31
Q

Gene mutations occur?

A

Coding sequences

Non-coding sequence

32
Q

Mutations are affected by?

A 
Addition
Deletion
Replacement
Transposition
Inversion
33
Q

Define Single Base Deletion

A

CAC to CAT change alters the reading frame (frame shift mutations)
- Affects the AA sequence of glycosyltransferase genes

34
Q

Define point mutation

A

Single base pair change in the DNA alters the meaning of the genetic code, leading to replacement of flutamic acid by valine in the polypeptide chain
- Beta thalassemia

35
Q

What causes beta thalassemia?

A

Caused by mutations in the HBB gene

- Inherited blood disorder that reduces the production of hemoglobin; without enough RBC cannot bind enough oxygen

36
Q

Define three-base deletion

A

Common cystic fibrosis allele results in synthesis of a protein that is missing amino acid 508 –> bc the deletion is a multiple of three, this is not a frameshift mutation

37
Q

Define Tay-Sachs

A

Lipid disorder in which significant accumulation of a fatty substance called ganliodises in the brain caused by insufficient activty of hexosaminidase A that catalyzes the biodegradation of gangliosides
- For base insertion alters the reading frame , causing premature termination of protein synthesis

38
Q

Mutations in DNA leads to defects in?

A

Transcription
Translation
Post-translational processing
Abnormal protein

39
Q

What defects cause abnormal protein synthesis to lead to loss of function?

A 
Enzyme defects
Accumulation of substrate
Metabolic block 
Inactivation of corrosive substrates
Defects in receptors and transport systems
Alterations in key structural proteins
Adverse reactions to the drugs
Activation of protoncogenes
Inactivation of tumor suppreser genes

POD Test Two (8 decks)

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