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Patho > Quiz 1 - Genetics+Cellular Biology > Flashcards

Quiz 1 - Genetics+Cellular Biology Flashcards

1
Q

DNA directs creation and sequence of _____.
RNA directs creation and sequence of ______

A

RNA
Polypeptides

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2
Q

DNA has 4 nitrogenous bases in two categories:

A

Pyrimidines = Thymine and Cytosine
Purines = Guanine and Adenine.

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3
Q

For the 4 nitrogenous bases of DNA, which can bind together?

A

A-T
G-C

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4
Q

What is the different nitrogenous base in RNA?

A

Urasil (Pyramidine)

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5
Q

What types of “spelling errors” (Insertions/deletions) would be symptomatic? Asymptomatic? Which ones affect only the single trinome? Which affect the trinome AND those that come after it?

A

Symp: Non-conservative missense mutation
Nonsense mutation and frame-shift mutation
Asymptomatic: silent mutation + conservative mutation.

Silent, conservative and non-conservative missense
Nonsense (total stop after)
Frame shift - adds an extra base to shift and change all those coming after.

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6
Q

What is the most common type of allele (spelling sequence) among population?

A

Wild Type

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7
Q

2 types of cellular mutations

A

Germline - affects all body cells because it stems from egg and sperm (embryo)
Somatic - affects a certain previously healthy cell line (limited) like cancer. Environmental effects.

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8
Q

What is an SNP? (“Snip”)
Example?

A

A Single Nucleotide Polymorphism or point mutation (single base pair change) that may or may not have an impact.
certain SNP (8q24) associated w/ prostate cancer.

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9
Q

What’s the difference between a genotype and a phenotype?
Example?

A

Genotype = genomic sequence
Phenotype = how the individual appears on the outside
Ex: Trisomy 21 = Genotype
Facial features of Down Syndrome = phenotype

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10
Q

2 factors of phenotypes

A

Expressivity - how a certain genotype is expressed in external features
Penetrance - the % of people with the genotype who express the expected phenotype

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11
Q

What is one of the only known complete penetrance genotype that is very predictable

A

Huntington’s

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12
Q

What can explain familial diseases not explained by SNPs?
Examples?

A

Copy Number Variants present on chromosomes
Autism, schizophrenia.

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13
Q

What does it mean to be an interfering RNA?

A

MiRNA or siRNA
Non-coding
Inhibit RNA translation through degradation
Pros and cons to this

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14
Q

Explain epigenetics

A

Epigenetics talks about how certain genes are turned on or off through methylation - not all genes are on at once.
Environmental factors can play a huge role in epigenetics

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15
Q

What can abnormal methylation lead to?

A

Cancer development

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16
Q

What holds the DNA strand apart to prepare for reading?

A

Proteins

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17
Q

What reads the DNA template strand?

A

mRNA

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18
Q

What carries the copied info out to the cytoplasm?

A

MessengerRNA

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19
Q

What carries the activated amino acids to the ribosome?

A

TransferRNA

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20
Q

What allows for easy ID of absent or extra chromosomes?

A

Chromosomal Array and Giemsa stain

21
Q

How many pairs of chromosomes? Categorized as?

A

46 total
22 pairs of autosomes
1 pair of sex chromosomes

22
Q

Major Chromosomal aberrations occur 1 in every ______ conceptions.

A

12

23
Q

What are the 3 trisomies that are compatible with life?

A

13, 18 and 21

24
Q

Viability with no X?
With no Y?

A

No
Yes

25
Q

What is Turner Syndrome?

A

Only 1 X chromosome.

26
Q

what is the most common single chromosome aberration?

A

Turner Syndrome (X0)

27
Q

What is Kleinfelter Syndrome?

A

XXY or XXXY
1:1000 male births
Male appearance
Sterile with moderate mental impairment

28
Q

What is Jacob’s Syndrome?

A

XYY (duplicate Y)
Male
Tall, reduced IQ, increased behavioral issues.

29
Q

Explain
46, XY, 5p-
Also called?

A

Normal # of chromosomes, Male, missing the short arm of the 5th chromosome.
Cri-du-chat

30
Q

What 3 things cause increased breakage of chromosomes?

A

Ionizing radiation
Chemical exposure
Viral infx

31
Q

Which are less serious - deletions or duplications?

A

Duplications are less serious.

32
Q

Two types of Translocations

A

Reciprocal and Robertsonian.

33
Q

If you have a robertsonian translocation, but you are healthy, what is the risk?

A

To your offspring - increased likelihood of miscarriage, and increased risk for offspring with genetic defects.

34
Q

What are some examples of Trinucleotide repeats?

A

Stutters
Huntingoton’s Disease
Spinocerebellar ataxia
Fragile X syndrome

35
Q

What is the most common inheritable intellectual disability?

A

Fragile X syndrome.

36
Q

What are the principles of AD inheritance patterns

A

Autosomal Dominant
Males and Females equally affected (NOT sex-linked)
No “skipping” generations
Every child has 50% chance of inheriting the disorder

37
Q

What is an example of incomplete AD mutation pattern?

A

Retinoblastoma.

38
Q

What is genomic imprinting?

A

Embryo “labels” maternal vs paternal chromosomes via methylation

39
Q

What are 3 characteristics of AR mutations?

A

Incomplete penetrance
Variable expressivity
Delayed age of onset.

40
Q

What are some AR principles?

A

M+F equally affected
Disease seen in siblings not parents
1/4th offspring affected on average.

41
Q

What are some characteristics of mitochondrial inheritance?

A

Maternally derived
All children of an affected female are affected.

42
Q

X-linked genetic disorder principles?

A

Disease Expressed in males
Not transmitted from father to SON
Father transmits to ALL daughters (as carriers)
Affected will be grand sons.

43
Q

If you have an affected male and a carrier female, what is the recurrence risk for X-linked genetic disorder?
Affected male and normal female?

A

Daughters = 50% affected, 50% carriers
Sons = 50% normal, 50% affected

All sons normal
All daughters carriers

44
Q

Genetic testing locates mutations, not _________

A

Disease. There is no way to tell what the penetrance of the mutation will be.

45
Q

What is the goal of CYPs?

A

To completely biotransform to a polar metabolite for elimination.

46
Q

What does it mean if someone has 3 copies of CYP?

A

Ultra-rapid metabolizers - chew through drugs.

47
Q

Where do most CYP Drug-drug interactions occur?

A

CYP3A4

48
Q

Is grapefruit juice an inhibitor or inducer?

A

Inhibitor

Patho (18 decks)

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