Ch 2- Genes + Genetic Diseases Flashcards
What does symptoms mean?
Symptoms are the subjective findings usually straight from the patient. For example pain scale
What does signs mean?
Signs are the objective reading. For ex Vitals
What does Acute disease mean?
sudden appearance of si/sy. Last shorter
What does chronic disease mean?
develops slowly and last long
what does prevalence mean?
indicates all current cases of the disease
what does incidence mean?
indicates number of new cases
what does predisposing factor mean?
risk factor/increased probability of disease occurence
what does precipitating factor mean?
disease trigger/ condition that causes disease
what does morbidity mean?
condition of being diseased
what does mortality mean?
related to risk of death
what does syndrome mean?
group of signs and symptoms which occur together
what does disorder mean?
abnormality of function
what does epidemiology mean?
study of tracking patterns of disease occurence
what does remission mean?
symptoms disappear or diminish
what does exacerbation mean?
sudden increase in severity
what does complication mean?
Medical problem that occurs during a disease or after a procedure or treatment
what does etiology mean:
cause of disease
what does idiopathic mean?
unknown cause
what does latrogenic mean?
occurs as a result of treatment
what does nosocomial mean?
disease originating in the hospital
Describe DNA
- double helix model
- held together by hydrogen bonds
- backbone of deoxyribose-phosphate
- has 4 nitrogen bases
- A with T
- G with C
How does DNA replication happen?
The strand is broken at the replication fork, and new hydrogen bonds form between new complementary nucleotides. Resulting in 2 identical copies of the original DNA. Antiparallel strands, + makes -, - makes +.
what are amino acids?
3 nitrogen bases code for an amino acid called a codon. there are 20 types in the body. a protein is a specific combo of amino acids. DNA is transcribed into mRNA and then translated into proteins by ribosomes.
How does DNA makes mRNA?
you have a dna coding strand and template stand that divide. then a short RNA strand moves over the template strand where correct amino acids are put onto the RNA strand. this sequence creates a recipe for a protein. RNA leaves the nucleus going to the ribosome.
how does mRNA create a protein (translation)?
- Ribosome and mRNA join
- tRNA carry anti codon to ribosome
- anticodons and mRNA codon pair together
- anticodons create a polyteptide
- process ends at stop codon
resulting in DNA transcribed a sequence of amino acids onto RNA. ribosome is translated that sequence into a polypeptide protein
What does meiosis end in?/ What does mitosis end in?
meiosis= 4 unique n cells
mitosis= 2 identical 2n cells
what is a substitution mutation?
inappropriate sequence of nucleotides= new amino acid
what is a insertion mutation?
insertion of new inappropriate nucleotide = multiple new amino acids
what is a deletion mutation?
appropriate nucleotide removed= multiple new amino acids
What happens if a mutation provides no benefit?
No evolution
what happens if a mutation provides a negative benefit
extinction
what happens if a mutation provides a positive benefit?
becomes dominant in environment
what is a base pair substitution? what are the 2 types?
one base pair replaces another base pair. Missense= produce a change in a single amino acid. Nonsense= produce one of three stops codons
what is a frameshift mutation?
Insertion or deletion of one or more base pairs. this greatly alter amino acid sequences. this results in a dramatic change to protein produced at ribosome.
what does autosomal dominant mean?
gene in question is on one of the numbered or non sex chromosomes and means a single copy of disease associated mutation strong enough to cause disease
what does autosomal recessive mean?
found on one of numbered or non sex chromosomes and two copies of mutation is required to cause disease
what does X linked inheritance mean?
This means the gene is carried by the mother, and then passed on, male children become affected while female children become carriers.
what does polygenic traits mean?
traits affected by more than 1 gene
