Genome Flashcards
What is genomics
The Structural and functional mapping of genomes and there evolution.
What is genetics
Study of genetics passing from offspring (heredity)
What can be the structures of genomics
Humans
Other animals
Bacteria
Viruses
Protists
What are the functions of genomics (3)
Tract viral infections and variants
Track gene transfer
Track drug resistance in pathogens
Define genetic coding
A sequence of nucleotides that encodes the sequence of aminio acids that make up a protein
What does chromatin consist of
DNA
Proteins
What is contained in nucleosomes
Histones
that help ‘package’ `and regulate the DNA strand.
What does DNA stand for
Deoxyribonucleic Acid
What are the base pairs
A pairs w/ T ——-(Or U in RNA)
G pairs w/C
What makes a codon
Three nucleotides combination
What does a three letter codon code for
Amino acid
Stop
What are the Four nucleotides called
A is adenine
U is uracil
G is guanine
C is cytosine
What are nucleotides divided into two groups called and what is included in each group
Purines ( Adenine and Guanine)
Pyrimidines (thymine and cytosine and (uracil in RNA)
What is the bonding between the base pairs
Hydrogen bonding
What is included in DNA
base pairs
Deoxyribose phosphate backbone
what is genomics in healthcare
More accurate diagnosis of a broader range of diseases with a genetic bases and also likelihood the patient will get the disease.
How can proteins occur from DNA
DNA can go through transcription to get RNA
RNA can go through translation to get proteins
Where does transcription occur
In the nucleus of the cell where RNA polymerase attaches to the start of the gene. the DNA unwinds to produce messenger RNA complementary to the DNA sequence.
Why are the structure and sequence of codons so important
Because it produces the structure and the function of the Protein
What is the difference between RNA and DNA
RNA single stranded
Have a U base than a T base
What codes for amino acids in RNA
Exons or Introns
Extron
Where does translation phase occur
in the cytoplasm
What happens in the translation phase
Messenger RNA moves out of the nucleus and binds to the ribosomes
strand of MRNA will move from one codon at a time starting at a start codon and moving trough which is called transfer RNA will carry on creating amino acids at the ribosome until it reaches a stop codon which is where it terminates.
What is the chain called of amino acids
Polypeptide chain
What does the polypeptide chain do once it reaches a codon that codes for a stop
It will fold and modify into a protein
What is the Three letters of the start codon
AUG
What are the three letters for the stop codon (3)
UAA
UGA
UAG
What type of chain are there for different amino acids (4)
Non Polar
Acidic
Basic (alkali)
Polar
What happens if you change an amino acid in the sequence
It could change the function of the protein
What is the estimate for the amount of genes in humans
21,000
genes can have differences such as
Gain functions
Lose functions
lethal mutation
Ineffective mutation s
What is the process where genes produce more than one gene product (protein)
Alternative gene splicing
What are the structural proteins (5)
Collagen
Elastin
Keratin
Desmoglein
Tubulin
What are the functional proteins (5)
Enzymes
Ion channels
Neurotransmitter receptors
Antibodies – many types
Active transporters – e.g. Na+/K+ ATPase
What is gene
Basic unit of heridity
What is pseudogene
Non functional gene that creates a damaged gene sequence
Define exons
Protein Coding region
Define introns
Non protein codon regions
What is alternative slicing
Same gene is coded in a different way to make two different proteins
What are the post translational modification
Carbohydrates
lipids
Modify AA chain
Add chemical regulators
What could make a pseudogene (5)
missing promotor
Missing start codon
Premature stop codon
Missing introns
Partial deletion
What is the structure of human genome
bases (3.2 billion)
Genes (21,000)
RNA code(22,000)
Pseudogens (14,000)
1.5% genome sequence encodes functional proteins
wha is a large percentage of genes are what
unclassified (23.5%)
What three main things we have a huge number of (genes)
Unknown functions
Unknown interactions
Unknown alternative functions
What is a genotype
set of genetic material including various variant gene they carry.
Define meiosis
Special cell division for production of gametes
What are the three causes of genetic variation
organism that is different from others of its type because of a permanent change in its gene
examples of mutagens (5)
Pollutants and environmental triggers
Endogenous
Viral insertions
Ultraviolet light
Ionising radiation
define mutation
Any heritable change to the DNA sequence
Define somatic mutation
Passed to dividing cell in tissues
E.g. cancer
Define germline mutation
Passed from parent to offspring
What are the main categories of Variant (4)
-loss of function variant- gene product loses some or all of function
-gain of function variant - new or enhanced activity for gene product
-benign
-Pathogenic
Physical types of variants (4)
Single nucleotide
Indels
structural
Repeat
Define missense mutation
A single nucleotide has been substituted for a different one
Define nonsense mutation
a single nucleotide has been substituted for a different one but a stop codon has been made.
define INDELS
Insertion and deletion where nucleotides have been added or removed
what is the mechanism for a frameshift mutation
insertion and deletion mechanism
Structural variants (4)
Translocations- chromosomal abnormalities
Inversions- reversal coding region
Large deletions- 1000 base pairs
Copy number- deletion or duplication of coding region
Define translocation variant
Chromosomal abnormalities
Define inversions variant
Reversal genetic coding
Define large deletion
1000 base pairs
Define copy number variants
deletion and duplication of coding region
frameshift mutation
Insertion and deletion the reading frame is changed
Define mitosis
The process by which a single cell divides to make two new daughter cells.
What is epigenetic
The study of how gene activity can be controlled without challenging the DNA sequence itself.
What factors can cause epigenetic changes that affect the way genes work (on and off)
Behaviour
Environmental
What is bioinformatics
Analysis, storage, annotation and retrieval of genomic data.
what are the four steps for a blood test monogenic disorders
1- take sample of DNA
2- Use gene specific reaction to copy gene (PCR)
3- Separate copies by size
4- if there is a gene deletion the smaller copy will show up.
Health care genomic main goals
- Identify risk and individual basis
- develop rapid, accurate and comprehensive genetic testing
- Promote early diagnosis of disease
- inform strategies for conventional treatment
- inform and direct relevance and high person specific precision treatment.
What triggers epigenetic
Toxic chemicals
Diet
Psychological state
microbiomes
therapeutic drugs
Disease
Infections viral/ bacteria
Exercise
How does epigenetic work
by adding a chemical group to tag the DNA.
What are the epigenetic tags
methylation
alteration of histones
alteration of regulatory RNAs
