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PHAR 211 > Basic Concepts > Flashcards

Basic Concepts Flashcards

1
Q

How many cells does the human body have?

A

~30-40 trillion

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2
Q

How many types of cells are there in the human body?

A

over 200

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3
Q

what is the longest phase of the cell cycle?

A

G1

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4
Q

what happens in G1?

A

cell grows and prepares for DNA replication

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5
Q

what happens in the S phase of cell cycle?

A

(synthesis) - DNA replication

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6
Q

what happens in the G2 phase?

A

cell continues to grow and prepares for mitosis

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7
Q

what happens in the M phase?

A

(mitosis) - cell stops growth and starts division

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8
Q

what happens in the G0 phase?

A

cell has left the cell cycle and stopped dividing

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9
Q

when are the checkpoints in the cell cycle?

A

G1: DNA synthesis
G2: preparation for mitosis

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10
Q

what is the restriction point (R)?

A

cell commits to the cycle for division

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11
Q

what is the average chromosome made of?

A

DNA molecules and proteins
- 2500-5000 genes within 130 million base pairs

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12
Q

what is a microband?

A

3-5 million base pairs and 60-120 genes (section of chromosome)

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13
Q

what % of human chromosomes code for genes?

A

10%
the rest may play regulating roles

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14
Q

what are the 4 types of nucleotides in DNA and their pairs?

A

A, T, G, C
A-T and G-C

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15
Q

what are the 4 types of nucleotides in mRNA and their pairs?

A

A-U and G-C

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16
Q

which mutations in nucleotides cause a different amino acid?

A

1st and 2nd
3rd can sometimes

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17
Q

gene expression:

A

gene -> mRNA -> protein

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18
Q

transcription:

A

gene -> mRNA

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19
Q

translation:

A

mRNA -> protein

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20
Q

what are promoters?

A

DNA sequences that “promote” gene expression

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21
Q

when are promoters required?

A

for DNA transcription (mRNA synthesis)

22
Q

what do promoters do?

A

direct the exact place to initiate DNA transcription
determine when and how a gene is transcribed
promoter methylation represses gene transcription

23
Q

what does the nuclear DNA genome consist of?

A

22 pairs of autosomes (diploid) and 2 sex chromosomes
~19000 genes

24
Q

what does the mitochondrial DNA genome consist of?

A

~17 000 base pairs
38 genes

25
Q

T or F: annotation is needed

A

true

26
Q

what is ENCODE?

A

encyclopedia of DNA elements

27
Q

what are the genetic variations in the human genome?

A

single nucleotide polymorphisms (SNPs)
copy number variations (CNVs)
insertions and deletions
large scale variations
structural variations

28
Q

what is the most common type of genetic variation?

A

SNPs

29
Q

what is a SNP?

A

small stretches of DNA that differ in only 1 base

30
Q

if SNP in regulatory region:

A

change in expression level

31
Q

if SNP in coding region:

A

change in protein structure -> may change protein function

32
Q

T or F: Polymorphisms can happen on only one copy of genes

A

True

33
Q

what is copy number variations?

A

variation among people in the number of copies for a particular gene or DNA sequence
- a source of genetic diversity

34
Q

what are the types of CNVs?

A

deletion
duplication
segmental duplication
inversion

35
Q

which diseases are associated with CNVs?

A

cancer
autism
lupus
autoimmune disorders
stroke

36
Q

how do CNVs effect SULT1A1

A

more copies = faster metabolizers
2 copies = normal
1 copy = slow metabolizer

37
Q

what are the 5 categories of INDELs?

A
  1. insertions or deletions of single base pairs
  2. expansions by only one base pair (aaaaa)
  3. multi-base pair expansions of 2-15 repeats
  4. transposon insertions (insertion of mobile elements)
  5. random DNA sequence insertions or deletions
38
Q

which diseases are associated with INDELs?

A

cystic fibrosis
huntingtons disease
breast cancer

39
Q

what are large scale variations?

A

large portions of DNA repeated or missing for no known reasons in healthy persons

40
Q

what are structural variations?

A

involve kilobase- to megabase-sized deletions, duplications, insertions, inversions and complex combinations of rearrangements

41
Q

what leads to acute lymphocyctic leukemia and chronic myeloid leukemia?

A

philadelphia chromosome
- translocation pf chromosome 9 and 22
- creates BCR-ABL gene

42
Q

what are the basic technologies in developing personalized medicine?

A

molecular diagnostics, especially SNP genotyping
the “omics”
bioinformatics

43
Q

what is genomics?

A

mapping, sequencing and functional analysis of the genome
- looks at all genes as an entire system

44
Q

what is transcriptomics?

A

study of transcriptomes and their function (mRNA)

45
Q

what is an exon and intron?

A

exon: portion of gene that encodes amino acid
intron: portion of gene that does not code amino acid
- introns are kicked out and exons are re-arranged

46
Q

what is proteomics?

A

study of proteomes and their functions (all proteins)

47
Q

what is metabolomics?

A

study of metabolites within cells, tissues or organisms

48
Q

what are some applications of metabolomics?

A

biomarker identification and drug safety screens

49
Q

what is lipidomics?

A

study of pathways and networks of cellular lipids in biological systems

50
Q

what is bioinformatics?

A

computational approaches to analyze, manage and store biological data
- analytical method for the “omics”

51
Q

what are biomarkers?

A

biological molecule found in blood, other bodily fluids, or tissues that is a sign of a normal or abnormal process, or of a condition or disease

52
Q

what are biomarkers used for?

A

to see how well the body responds to a treatment for a disease or condition

PHAR 211 (3 decks)

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