Genetics Flashcards
define molecular genetics
the study of genes and their functions at the molecular level
how does DNA get translated to a protein
- DNA replicates itself, DNA is transcribed into RNA, and RNA is translated into proteins
- Replication of DNA and transcription from DNA to mRNA occurs in the nucleus while translation from RNA to proteins occurs at the ribosome within the cytoplasm
- The DNA sequence (code), is copied and transported into the cytoplasm, and defines the sequence of amino acids in the protein that is produced
- Groups of 3 bases constitute a codon which specifies a particular amino acid
what are synonymous changes in DNA
silent changes
- do not affect the protein produced
what are non-synonymous changes in DNA
result in an altered protein
name different types of DNA mutations
- nonsense
- missense
- insertions
- deletions
- frameshift mutations
- substitutions
define monogenic disorder
change in a single gene results in the disease presentation
define polygenic disease
multiple gene mutations contribute to disease risk along with environmental factors
what are some techniques used in molecular genetics
- PCR
- DNA sequencing
- gene expression analysis
- gene editing technology
describe how CRISPR-Cas9 gene editing works
a guide RNA (gRNA) guides the DNA cutting enzyme Cas9 to a specific cite in the genome
what are model organisms
non-human species used by scientists in the lab to investigate and understand biological processes
what are some important characteristics of model organisms
- short life span
- short life cycle
- large number of offspring produced
- ability to thrive in lab
- genetic tractability
- ethical
- relevance to humans in terms of disease mechanisms
suggest some model organisms that could be used to study simple cellular processes
bacteria (Escherichia coli)
yeast (Saccharomyces cerevisiae)
suggest some model organisms that could be used to study cell development, behaviour and degeneration
worm
fruit flies
zebrafish
suggest some model organisms that could be used to study human-specific conditions
mice
define precision medicine
customises healthcare based on an individual’s genetic profile, lifestyle and environment
define pharmacokinetics
what the body does to the drug
metabolism, distribution, absorption, treatment, elimination
define pharmacodynamics
what the drug does to the body
prevention or attenuation of disease status, adverse effects
what technologies are enabling the shift to precision medicine
- DNA sequencing and genomic databases
- precise animal models to study disease and develop new therapies
- pharmacogenomic analysis of drug responses
- bioinformatics and big data analysis
