Physiology exam 1
chromosomes are made up of - ANS genes
genes are made up of - ANS dna
how many chromosomes in a human - ANS 46, 22 pairs of autosomes, 2 sex chromosomes
what role does DNA serve - ANS replication of cells, protein and fat synthesis
what scientists first described DNA - ANS Watson and Crick
what does DNA stand for - ANS deoxyribonucleic acid.
what is DNA - ANS chemical compound that contains the genetic instructions needed to develop and
direct the activities of every organism
what is the backbone of DNA made of - ANS phosphoric acid and deoxyribose (a phosphate and a
sugar)
What are ATCG - ANS nucleotide bases
What is RNA - ANS DNA helper that directs syntheis of protein
where is DNA located - ANS nucleus of every cell
what does mRNA do - ANS its the messenger RNA. Takes a complementary RNA strand to the
cytoplasm where translation occurs and a protein is made
what does tRNA do - ANS transfers amino acids to a growing protein chain on the ribosome to a
protein can be made
,what does rRNA do - ANS its part of the physical structure of ribososmes
transcription is - ANS process where genetic code in transferred to mRNA
translation is - ANS process where protein is formed under direction of mRNA, tRNA carries amino
acids for protein synthesis
what is an mRNA vaccine - ANS a vaccine that has mRNA that codes for a protein on the surface of
the virus. This protein then triggers an immune response so that if the body ever encounters the
true virus, it has t and b cells to fight it. the vaccine itself does not have antigens, just the blueprint
for an antigen.
advantage of mRNA vaccine - ANS 1. never changes DNA, never enters nucleus
2. cell breaks down and gets rid of mRNA after it reads its message, so mRNA doesn't linger around
allele - ANS different forms of a gene (dominant or recesssive)
genotype - ANS actual genetic DNA makeup
phenotype - ANS outward physical representation of a gene
proto-oncogenes - ANS normal genes that control cell growth
oncogenes - ANS abnormal gene that control cell growth and cell mitosis
mutation - ANS genetic variant (defect), frequency <1%
penetrance - ANS proportion of individuals carrying a variant of a gene that xpress and associated
trait.
polymorphism - ANS genetic variant with population frequency >1%
, whats an example of a polymorphism - ANS cytochrome p450 genes can alter drug metabolim (poor
metabolizers, ultrarapid metabolizers)
if there is a genetic variant that affects 5% of the population we would refer to this variation as - ANS
polymorphism
cytochrome p450 - ANS general name for a large class of 57 enzymes involved in phase 1 drug
metabolism in the liver
what is sickle cell an example of - ANS point mutation (single nucleotide difference)
whats the different between SNP and point mutation - ANS If the variation codes for a mutation that
is "common" (greater than 1% of population), its known as a SNP (single nucleortide polymorphism).
A point mutation is rare and is usually found in the coding part of DNA so often has an effect on an
individual.
Both SNP and point mutations represent a change in what - ANS single nucleotide
the human genome carries how many genes - ANS approximately 20,500
what is a genome - ANS an organism's complete set of genetic material (DNA) which resides in the
23 pairs of chromososmes within the nucleus of all cells. Comprised of 20,500 genes.
how many proteins does a gene make on average - ANS 3
genomic sequencing determines what - ANS the exact order of base pairs in DNA
How many copies of a recessive gene do you need in order to show that trait - ANS two. need two
blue eyed genes to have blue eyes since it's recessive
what are the four types of inheritance - ANS autosomal dominant, autosomal recesive, x linked
dominant, x linked recessive
what is malignant hyperthermia an example of - ANS autosomal dominant inheritance
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