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PHAR 211 > Basic Concepts > Flashcards

Basic Concepts Flashcards

(52 cards)

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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?

Study These Flashcards
A

for DNA transcription (mRNA synthesis)

22
Q

what do promoters do?

Study These Flashcards
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?

Study These Flashcards
A

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

24
Q

what does the mitochondrial DNA genome consist of?

Study These Flashcards
A

~17 000 base pairs
38 genes

25
T or F: annotation is needed
true
26
what is ENCODE?
encyclopedia of DNA elements
27
what are the genetic variations in the human genome?
single nucleotide polymorphisms (SNPs) copy number variations (CNVs) insertions and deletions large scale variations structural variations
28
what is the most common type of genetic variation?
SNPs
29
what is a SNP?
small stretches of DNA that differ in only 1 base
30
if SNP in regulatory region:
change in expression level
31
if SNP in coding region:
change in protein structure -> may change protein function
32
T or F: Polymorphisms can happen on only one copy of genes
True
33
what is copy number variations?
variation among people in the number of copies for a particular gene or DNA sequence - a source of genetic diversity
34
what are the types of CNVs?
deletion duplication segmental duplication inversion
35
which diseases are associated with CNVs?
cancer autism lupus autoimmune disorders stroke
36
how do CNVs effect SULT1A1
more copies = faster metabolizers 2 copies = normal 1 copy = slow metabolizer
37
what are the 5 categories of INDELs?
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
which diseases are associated with INDELs?
cystic fibrosis huntingtons disease breast cancer
39
what are large scale variations?
large portions of DNA repeated or missing for no known reasons in healthy persons
40
what are structural variations?
involve kilobase- to megabase-sized deletions, duplications, insertions, inversions and complex combinations of rearrangements
41
what leads to acute lymphocyctic leukemia and chronic myeloid leukemia?
philadelphia chromosome - translocation pf chromosome 9 and 22 - creates BCR-ABL gene
42
what are the basic technologies in developing personalized medicine?
molecular diagnostics, especially SNP genotyping the "omics" bioinformatics
43
what is genomics?
mapping, sequencing and functional analysis of the genome - looks at all genes as an entire system
44
what is transcriptomics?
study of transcriptomes and their function (mRNA)
45
what is an exon and intron?
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
what is proteomics?
study of proteomes and their functions (all proteins)
47
what is metabolomics?
study of metabolites within cells, tissues or organisms
48
what are some applications of metabolomics?
biomarker identification and drug safety screens
49
what is lipidomics?
study of pathways and networks of cellular lipids in biological systems
50
what is bioinformatics?
computational approaches to analyze, manage and store biological data - analytical method for the "omics"
51
what are biomarkers?
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
what are biomarkers used for?
to see how well the body responds to a treatment for a disease or condition

PHAR 211 (3 decks)

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