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PHAR211 > Basic Concepts of Personalized Medicine > Flashcards

Basic Concepts of Personalized Medicine Flashcards

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1
Q

How many cells are in the human body?

A

30-40 trillion

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2
Q

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

A

over 200 different types
-such as neurons, epithelial cells, RBCs

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3
Q

How many cells die each day?

A

100 billion
-replaced by new cells by cell division
-each division is called a “cell cycle”

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4
Q

What are the phases of the cell cycle?

A

G1 (gap 1): cell grows and prepares for DNA replication
S (synthesis): DNA replication
G2 (gap 2): cell continues to grow and prepare for mitosis
M (mitosis): cell stops growth and starts division
G0 (gap 0): cell has left the cell cycle and stopped dividing

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5
Q

What are the checkpoints in the cell cycle?

A

G1 and G2
-apoptosis starts if anything goes wrong
-G1 checkpoint: DNA synthesis
-G2 checkpoint: preparation for mitosis

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6
Q

What is R (restriction point) of the cell cycle?

A

cell has committed to the cycle for division

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7
Q

How many pairs of chromosomes are in the human body?

A

23 pairs
-complex of a DNA molecule and proteins

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8
Q

What is the structure of a DNA molecule?

A

linear double-stranded (50-250 million base pairs)

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9
Q

How many genes are within the average chromosome?

A

average chromosome contains 2500-5000 genes within 130 million base pairs

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10
Q

Are genes evenly distributed on a chromosome?

A

no, could be clustered
-microband (3-5 million base pairs and 60-120 genes)

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11
Q

What percentage of human chromosomes code for genes? What is the role of the rest of the human chromosomes?

A

10% code for genes
rest play regulating role

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12
Q

What is a gene?

A

a portion of chromosomal DNA sequence required for the production of a protein or a functional RNA molecule
-include the coding sequence and adjacent sequence required for regulation of expression (such as promoters)

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13
Q

What is the size of a gene?

A

varies
-small (1.5 kb) or large (2000 kb)

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14
Q

What is RNA splicing?

A

precursor mRNA –> mRNA

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15
Q

What are the four types of nucleotides in DNA?

A

A, T, G, C
-pairs: AT and GC

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16
Q

What are the four types of nucleotides in mRNA?

A

A, U, G, C
-pairs: AU and GC

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17
Q

Differentiate transcription and translation.

A

transcription: gene –> mRNA
translation: mRNA –> protein

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18
Q

How many genes are expressed in a typical human cell?

A

~15, 000
-expression varies from one cell to another

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19
Q

What is involved in many diseases in regards to genes?

A

gene malfunction

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20
Q

What are promoters?

A

DNA sequences that “promote” gene expression
-required for DNA transcription
-direct the exact place to initiate DNA transcription
-determine when and how a gene is transcribed

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21
Q

Where are promoters located?

A

upstream of genes
-RNA polymerase binding site

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22
Q

What can repress gene transcription?

A

promoter methylation

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23
Q

What is the Human Genome Project?

A

discovered complete DNA sequence of human

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24
Q

Differentiate the nuclear DNA genome and the mitochondrial DNA genome.

A

nuclear:
-22 pairs of autosomes (diploid) and 2 sex chromosomes
- ~ 3 billion base pairs
- ~ 19,000 genes
mitochondrial:
- ~ 17,000 base pairs
- 38 genes

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25
What is ENCODE?
encyclopedia of DNA elements -annotation of functional elements encoded in human genome
26
What are gene switches?
non-gene parts of DNA contributing to diseases -MS, lupus, RA, Crohns
27
What are the types of genetic variations in the human genome?
single nucleotide polymorphism (SNP) copy number variations (CNV) insertions and deletions large scale variations structural variations
28
What is the most common type of genetic variation among people?
SNP -80% of known polymorphisms
29
What is an SNP?
small stretches of DNA that differ in only one base -serve to distinguish individual genetic material -important in understanding the genetic basis of human disease -relationship with drug response
30
How many SNPs are within each gene?
~ 5 coding SNPs
31
What is the effect of an SNP on each of the following regions of a gene: -non coding -regulatory -coding
non-coding: no effect regulatory: change expression level coding: change protein structure-->may change function
32
What are CNVs?
variation among people in the number of copies for a particular gene or DNA sequence -source of genetic diversity -recombination based and replication based mechanisms
33
What is the predominant mechanism for genome evolution?
gene duplication and exon shuffling
34
What are some CNVs association with diseases?
cancer autism lupus autoimmune disorders stroke
35
What are insertions and deletions?
insertion or deletion of small pieces of DNA -alternative form of natural genetic variation
36
What are the five categories of INDELs?
insertion or deletion of single base pairs expansions by only one base pair multi-base pair expansions (2-15 repeats) transposon insertions (inserting mobile elements) random DNA sequence insertions or deletions
37
What are large scale variations?
large portions of DNA repeated or missing for no known reasons in healthy persons -may underlie disease susceptibility
38
What are structural variations?
kilobase to megabase-sized deletions, duplications, insertions, inversions, and complex combinations of rearrangements -genome structural changes are involved
39
What are hot spots?
regions with a lot of variation and often associated with genetic disorders and diseases -ex: short arm of chromosome 1
40
What are the types of structural variations?
deletion duplication paracentric inversion balanced translocation unbalanced translocation
41
What is molecular diagnosis?
detect specific DNA sequences that may or may not be associated with diseases
42
Which studies are involved in the "omics"?
genomics transcriptomics proteomics metabolomics
43
What is genomics?
mapping, sequencing and functional analysis of the genome
44
Is genomics the same as genetics?
no, they are different -genetics: look at a single gene -genomics: look at all genes as an entire system
45
Differentiate genetics vs genomics.
genetics -study of heredity -specific gene -function and composition of a single gene genomics -study of entirety -entire genome -address all genes and their relationships
46
What is transcriptomics?
study of transcriptomes an their functions
47
What is a transcriptome?
complete set of RNA transcripts produced by the genome
48
What are the technologies used in transcriptomics?
RNA-Seq and microarray
49
Differentiate between an exon and an intron.
exon: a portion of a gene that encodes amino acids intron: a portion of a gene that does not encode amino acids
50
What is proteomics?
study of proteomes and their functions
51
What is a proteome?
entire proteins expressed in a cell, tissue or organism
52
What are the technologies used in proteomics?
2D SDS-PAGE liquid chromatography mass spectroscopy
53
What is metabolomics?
study of metabolites within cells, tissues or organisms -less or non-invasive and closely linked to phenotype of diseases
54
What are metabolites?
proteins lipids sugars nucleotides
55
What are some applications of metabolomics?
biomarker identification drug safety screens
56
What is glycomics?
identify the structure and function of the complete set of glycans produced in a given cell or organism and identify all the genes that encode glycoproteins
57
What is lipidomics?
study of pathways and networks of cellular lipids in biological systems
58
What are the technologies utilized in lipidomics?
LC HPLC NMR MALDI-MS
59
What is bioinformatics?
computational approaches to analyze, manage and store biological data -meeting point for computer science and molecular biology -analytical method for the "omics"
60
What are biomarkers?
a biological molecule found in the blood, other body fluids, or tissues that is a sign of a normal or abnormal process, or of a condition or disease -used to see how well the body responds to a treatment for a disease or condition
61
What is systems biology and systems medicine?
computational modeling of complex biological systems biology of interacting networks facilitate the development of personalized medicine *apply the systems biology technology to medicine*
62
What is the systems approach?
P4 medicine -predictive -preventative -personalized -participatory
63
What is conventional medicine?
empirical therapies and mechanism-based therapies -developed as universal drugs for a certain disease -diseases with multiple therapies: up to physician experience and preference
64
What is conventional medicine associated with?
lack of efficacy and adverse effects
65
What is evidence-based medicine?
highest level of evidence from multiple RCTs -address a particular clinical problem *evidence-based guidelines may not be suitable for personalized medicine*

PHAR211 (16 decks)

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