exam #1 Flashcards
genome
all DNA/ genes
genes
parts of the genome; segments that code for proteins
how many nucleotides in each cell
3 billion
how many chromosomes in genome
46
how many genes in genome
20,000
how much of DNA are genes
only 2%
how long can DNA unravel to
2 meters
hierarchical structure of DNA
-DNA resides in chromosomes
-genes are nucleotides that get expressed in the real world
-nucleotides are multiple segments of DNA base pairs
-DNA is a combo of 4 possible amino acids
structure of a nucleotide
-phosphate (PO4): always attached to 5’ C
-deoxyribose sugar (ribose in RNA)
-base (only part that changes): always on 1’C
purines and structure
adenine and guanine; 2 rings
pyrimidines and structure
cytosine, thymine, and uracil in RNA; single rings
how to tell which is a deoxyribose and ribose
deoxy: no hydroxyl group on 2’ C
ribose: hydroxyl group on 2’ C
building a nucleotide process
-phosphate on 5’ adds to the 3’ C on the ext nucleotide
-H on 3’ OH group goes to water
-phosphodiester bond is formed between OH and COOH
adenine and thymine bond
2 hydrogen bonds
cytosine and guanine bond
3 hydrogen bonds; stronger bc need more energy to break
how to tell which is 5’ end and which is 3’ end
5’: contains phosphate group
3’: contains hydroxyl group
Avery, MacLeod, and McCarthy discovery of transforming principle
adding lethal bacteria to non-lethal bacteria caused mice to die
-cells lysed with RNAse and DNAse
ploidy
number of copies of chromosomes in the cell
what cells are haploid and what is this
sex cells (egg and sperm); half the number of chrom
diploid
double the number of chromosomes
reverse transcriptase
turns viral RNA into DNA, incorporates it into cells
retroviruses examples
-HIV
-SIV
-HTLV-1
-COVID-19
how can viruses cause cancer
activates genes to be expressed at higher rates than normal
linkage of genes
-on same chromosome: do not separate from each other in meiosis
-produces only two possible types of gametes
-3:1 ratio in Punnett square
segregation of genes
-2 genes on different chromosomes
-creates four possible types of gametes
-makes dihybrid pattern in Punnett
-9:3:3:1 ratio
unlinked genes
-2 genes on separate chromosomes or 2 alleles on same chromosome
-can recombine during meiosis
recombination of unlinked genes in meiosis
crossing over during meiosis 1, recombination in meiosis 2
-creates lots of variation
genotype
internally coded, inheritable info contained by an organism (genome)
phenotype
the outward physical manifestation; observable structure, function, or behavior of a living organism
silent mutations
changed codon codes for the same amino acid as normal
missense mutations
new amino acid created, can create a whole new protein that doesn’t have same function
-usually has largest effect
non-sense mutations
early stop codon created
how is protein structure related to function
-amino acid sequence dictates protein fold
-protein fold dictates protein function
-different sequences= different fold = different protein
how do mutations effect protein function
changes in DNA sequences (primary sequence) changes function
genetic code degeneracy
multiple nucleotides can code for the same codon
conservative mutation
change in the single amino acid doesn’t change the fold (same polarity)
problem substitution mutations and their effects
-functional: changes a critical amino acid, leads to changes in fold and thus change in function
-non-sense: results in stop codon and rest of protein isn’t made
sickle cell
substitution causes different amino acid to be made
deletion mutation
a single nucleotide or group of nucleotides is skipped
-causes reading frame shift and different protein is formed
insertion mutation
addition of unwanted nucleotide
-causes reading frame shift and different protein is formed
RFLP (restriction fragment length polymorphism)
-differences in DNA sequences detected bu restriction endonucleases
-RFLP/ band patten specific to clone/enzyme combo
-probe w/ labeled DNA sequence hybridizes fragments of digested DNA and revels unique blotting pattern to a specific genotype at specific locus
how is RFLP applied
-genetic testing: detects difference in homologous DNA sequences by looking at fragments made from specific RIs
-genome mapping
-genetic fingerprinting
-disease testing
-paternity testing
DNA sequencing
look at frequency of base amounts in DNA
-overlap show different versions of the gene
why do we need 3 nucleotides for a codon?
need to encode for 20 different amino acids, and if we only have 1 or 2 per codon, its not enough combos
why do codons need to be a consistent length
don’t know how to adjust the reading frame, and can’t tell where one stops and ends
gel electrophoresis
larger= travels slower, stays closer to the top (negative side)
why is DNA attracted to the positive electrode in gel
DNA is negatively charged due to its phosphate group, so negative attracts to positive
Southern blot general use and process
-after gel: use a DNA probe to detect what fragments contain the gene you are studying
1. DNA digested by RIs, fragments separated by size in gel and then denatured
2. filter/ membrane added to gel to transfer fragments to and fragments are blotted on nitrocellulose paper
3. replica of gel made and is incubated with labeled, complementary radioactive probe
4. probe attaches to the DNA fragments with the complementary sequence (only sticks to where the sequence matches)
5. look at results: any matching fragments shows the presence of that allele (called autoradiography)
similarities and differences between prok and euk
prok: oldest, small and simple, no nucleus, no organelles, single celled, circular DNA
euk: larger and more complex, nucleus, organelles, single or multi celled
both: DNA, ribosomes, cytoplasm, plasma membrane, linear DNA
restriction endonucleases
-cleave DNA at specific, palindromic sequences, generates single stranded bits of DNA and allows recombinant DNA to form
-fragments made can then be sorted by size in gel
-ex: EcoRI