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genetics
the study of genes, study of heredity, how characteristics are passed from parents to offspring
gene mapping
determining the location of a gene on a chromosome
gene
the basic unit of inheritance (controls one or more characteristic)
alleles
alternative forms of a gene
wild type (WT)
the standard (normal) form usually the most commonly occurring natural variant
mutant
a form different from the wild type
genotype
genetic makeup of an organism. usually only lists the mutant alleles
phenotype
observable properties of an organism (physical)
enzyme
catalyzes biological reactions
prokaryotes
single celled, DNA in cytoplasm and usually one circular DNA
eukaryotes
single or multi celled, DNA in nucleus and has multiple linear DNA in nucleus and one circular DNA in organelles
model organism
organisms that work well for genetic experimentation
saccharomyces cerevisiae
a budding yeast
drosophila melanogaster
fruit fly
caenorhabditis elegans
a nematode
arabidopsis thaliana
thale cress, a member of the mustard family
mus musculus
mouse
homo sapiens
humans
neurospora crassa
orange bread mold
chlamydomonas reinhardtii
a green algae
pisum sativum
a green pea
zea mays
corn
danio rerio
zebrafish
escherichia coli
e coli
transforming principle
what changed dead S and live R into live S strain
Griffith
mouse and streptococcus experiment. proved transforming principle
avery
destroying different components to find transforming principle. proved DNA. wasn’t trusted because of possible contamination
hershey and chase
bacteriophage experiment. put radioactive DNA and proteins into e coli cell and DNA stayed in cell while proteins did not. proved DNA was transforming principle
nucleotide
sugar+base+phosphate
deoxy
without oxygen
deoxyribose
sugar of DNA. has H instead of OH on 2’ carbon
ribose
sugar of RNA. has OH instead of H on 2’ carbon
purines
double rings. nine membered. AG
pyrimidines
one ring, six membered. CUT
nucleoside
sugar+base
polynucleotides
multiple nucleotides bound together by phosphodiester bonds
phosphodiester bonds
the bonds between bases creating the backbone of DNA. asymmetric
double helix
the shape of DNA
Chargaff
proved base pairing. A=T and C=G
Franklin and Wilkins
XRay diffraction showed helical structure. proved lengths between base pairs and one helical turn
.34 nm
length between base pairs
3.4 nm
one helical turn
Watson and Crick
winners of race. 2 polynucleotide chains wound around each other in a right handed helix. antiparallel. sugar on outside bases on inside. base pairing and hydrogen bonds. minor and major grooves
protein coat
surrounding on a viruses nucleic acid
bacteriophages
viruses that infect bacteria
exonuclease
removes nucleotides from the end of linear DNA
plasmid
minor chromosome that is dispensable to the life of the cell. important for DNA cloning
diploid
2
haploid
1
transposable elements
elements that can move positions within the genome
genome
set of information in one complete haploid chromosome set
C value (constant value)
the total amount of DNA in the haploid genome of a species
C value paradox
the structural complexity and the C value of an organism are not related. (human - 3.4 B bp, amoeba - 290 B bp)
chromatin
DNA protein complex that makes up chromosomes
histone
core of chromosome
nucleosome
basic unit of chromatin. histone core + core DNA
euchromatin
usually transcriptionally active (lightly packed) most of the genome
heterochromatin
usually inactive (tightly packed) centromeres and telomeres. repeat sequences at chromosome end
centromeres
where spindles attach
biochemical pathways
multistep process to produce a final product. each step is catalyzed by an enzyme. there are intermediate compounds after each reaction leading to the final product
AKU
urine blackening. first cousin marriages. build up of homogentisic acid in urine. normal people metabolize this acid.
minimal medium
inorganic salts, organic carbon source (sucrose), biotin B7 (vitamin)
prototroph
wild type. a strain that grows on minimal medium
auxotroph
a nutritional mutant that does not grow on minimal medium (requires a supplement
Beadle and Tatum
discovered biochemical pathways through minimal medium + aa experiment. One gene encodes one enzyme
pleiotropic
multiple phenotypic traits from a single mutation
PKU
block of phenylalanine so that it cannot convert to tyrosine. affects CNS, pigmentation, and hormal levels. treatment: supplement tyrosine, limit phenylalanine
essential amino acid
unable to synthesize it, must come from diet
recessive
an allele that is expressed only in the homozygous state
dominant
an allele that is expressed in either the homozygous or heterozygous state
homozygous
an organism with the same alleles for a gene
heterozygous
an organism with different alleles of a gene
albanism
block after tyrosine so that it cannot convert to DOPA which allows melanin. white skin and red eyes. two forms exist allowing for people with albanism to have normal children
Lesch-Nyhan Syndrome (LNS)
HGPRT recycles purines but in LNS pathway is impaired so purines accumulate and turn into uric acid which builds up in tissues causing kidney failure, involuntary spasms, mental deficiency, and self mutilation. X linked so mostly in males
Tay-Sachs Disease (TSD)
HexA cleaves terminal from a brain ganglioside and when ganglioside accumulates it destroys brain and nerve cells. rapid degeneration and usually death by 4
Sickle Cell Anemia (SCA)
RBC change shape under low O2 tension. break easily and block pathways. pleiotropic. non enzymatic. heterozygous less severe and immune to malaria
Cystic Fibrosis (CF)
mutation to channel that allows Cl- into cell. leads to build up of mucus into vital organs. non enzymatic
pedigree
family tree
amniocentesis
a sampling of amniotic fluid (contains fetal shed cells) using a syringe
Chorionic Villus Sampling
sampling of the chorion via the vagina
chorion
a membrane surrounding the fetus
genetic counseling
focuses primarily on informing clients of risks and probabilities of having a child of mutation
transcription
synthesis of an RNA molecule using a DNA template
central dogma of biology
DNA —> RNA—> protein
template strand
noncoding strand. used by RNA pol. read and pairs with mRNA. 3’ to 5’
coding strand
nontemplate strand. same sequence as mRNA. 5’ to 3’
mRNA strand
matches with coding strand and pairs with template strand. synthesized 5’ to 3’
ribonucleoside triphosphates (NTP)
RNA precursors
messenger RNA (mRNA)
encodes the amino acid sequence of a polypeptide
transfer RNA (tRNA)
brings amino acids to ribosomes during translation
ribosomal RNA (rRNA)
forms a ribosome with proteins
ribosome
translation machinery
small nuclear RNA (snRNA)
combines with proteins to form complexes (spliceosomes) used in various processes (intron splicing) only found in eukaryotes
short interfering RNA (siRNA) and microRNA (miRNA)
involved in gene silencing (RNA interference) in some eukaryotes
coding RNAs
translated into proteins (mRNA)
noncoding RNAs
not translated into proteins (everything but mRNA)
promoter sequence
attracts RNA polymerase to begin transcription at a site specified by the promoter in prokaryotes
RNA coding sequence
the transcribed sequence in prokaryotes. includes both translated and untranslated regions
terminator
specifies where transcription stops in prokaryotes
-35 region
promoter in prokaryotes. TTGACAT