Ch 2- Genes + Genetic Diseases Flashcards

1
Q

What does symptoms mean?

A

Symptoms are the subjective findings usually straight from the patient. For example pain scale

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1
Q

What does signs mean?

A

Signs are the objective reading. For ex Vitals

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2
Q

What does Acute disease mean?

A

sudden appearance of si/sy. Last shorter

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3
Q
A
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4
Q

What does chronic disease mean?

A

develops slowly and last long

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5
Q

what does prevalence mean?

A

indicates all current cases of the disease

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6
Q

what does incidence mean?

A

indicates number of new cases

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7
Q

what does predisposing factor mean?

A

risk factor/increased probability of disease occurence

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8
Q

what does precipitating factor mean?

A

disease trigger/ condition that causes disease

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9
Q

what does morbidity mean?

A

condition of being diseased

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10
Q

what does mortality mean?

A

related to risk of death

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11
Q

what does syndrome mean?

A

group of signs and symptoms which occur together

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12
Q

what does disorder mean?

A

abnormality of function

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13
Q

what does epidemiology mean?

A

study of tracking patterns of disease occurence

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14
Q

what does remission mean?

A

symptoms disappear or diminish

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15
Q

what does exacerbation mean?

A

sudden increase in severity

16
Q

what does complication mean?

A

Medical problem that occurs during a disease or after a procedure or treatment

17
Q

what does etiology mean:

A

cause of disease

18
Q

what does idiopathic mean?

A

unknown cause

19
Q

what does latrogenic mean?

A

occurs as a result of treatment

20
Q

what does nosocomial mean?

A

disease originating in the hospital

21
Q

Describe DNA

A
  • double helix model
  • held together by hydrogen bonds
  • backbone of deoxyribose-phosphate
  • has 4 nitrogen bases
  • A with T
  • G with C
22
Q

How does DNA replication happen?

A

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 +.

23
Q

what are amino acids?

A

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.

24
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.
25
how does mRNA create a protein (translation)?
1. Ribosome and mRNA join 2. tRNA carry anti codon to ribosome 3. anticodons and mRNA codon pair together 4. anticodons create a polyteptide 5. 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
26
What does meiosis end in?/ What does mitosis end in?
meiosis= 4 unique n cells mitosis= 2 identical 2n cells
27
what is a substitution mutation?
inappropriate sequence of nucleotides= new amino acid
28
what is a insertion mutation?
insertion of new inappropriate nucleotide = multiple new amino acids
29
what is a deletion mutation?
appropriate nucleotide removed= multiple new amino acids
30
What happens if a mutation provides no benefit?
No evolution
31
what happens if a mutation provides a negative benefit
extinction
32
what happens if a mutation provides a positive benefit?
becomes dominant in environment
33
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
34
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.
35
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
36
what does autosomal recessive mean?
found on one of numbered or non sex chromosomes and two copies of mutation is required to cause disease
37
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.
38
what does polygenic traits mean?
traits affected by more than 1 gene