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99 Cards in this Set

  • Front
  • Back
many diseases that are due to changes in one or more genes
uncontrolled cell growth
tumor stays in one place and doesn't spread to surrounding tissue
tumor grows into nearby tissue
spreads to other parts
a substance that causes cancer
cause cancer when they are activated when they shouldn't be
trigger normal cell division, they may be transcription factors
tumor supressor genes
these cause cancer when they are not active
if they become active in specialized cells, they will divide inapporopriately
cause blood vessels to grow so that they have a continuous supply of nutrients
cancer cells look less specialized than the normal cels
contact inhibition
cancer cells lose this, normal ells form a single layer then stop when they reach other cells, cancer cells pile up.
HeLa cells
cells from the cancer of a woman who died of cervical cancer in 1951 grow very quickly in a dish
population studies
looks at the incidence of a type of cancer among various populations
case-control studies
compares people with cancer to healthy people of the same age, sex, etc. Looks for differences.
prospective studies
2 groups of people follow different diets or treatments and are checked for cancer periodically
encompasses any techniques involving molecules of the cell, especially DNA
polymerase chain reaction, amplifies small amounts of dna
recombinant dna
dna from 2 or more organisms that has been joined together in the laboratory
transgenic animal
has the genetic change made to each of it's cells
cohen & boyer
1973 devised a way to cut then join together pieces of dna from different organisms
asilomat conference
140 "molecular biologists" gathered in california to discuss safety precautions in using this new technology. Decised physical containment and biological containment guidelines.
mends the missing phosphodiester bond
dna molecules that can carry inserted dna into a new species
vector, naturally occurring small double stranded dna molecule found in dna
vector, virus that can get into bacterial cells
vector, bacterial artificial chromosome
vector, yeast artificial chromosome
the process by which bacterial cells take up dna from the surrounding meduim
dna is injected into a cell using a tiny glass needle
small bursts of electricity alter a cell's membrane and create tiny holes through which dna can enter
particle bombardment
"gun" shoots tiny metal balls coated with dna
cells with the lac z gene turn blue when x-gal is the media. if the cloning site is in the lac z gene, colonies with vectors containing foreign dna will not turn blue in the presence of x-gal
genomic library
all of the dna is cloned. the genes contain introns
cDNA library
cDNA is made when the enzyme reverse transcriptase makes DNA base on RNA, no introns
DNA Probe
a piece of DNA that is from the gene of interest is coupled to some sort of reporter. it will only bind to the colony containing the gene of interest.
antibody probe
sometimes expression libraries are made. in these, the cloned genes are expressed. labeled antibodies will bond to the colony making th eprotein of interest
Ti plasmid
(tumor inducing) from the bacterium Agrobacterium tumefaciens
plant cells that have had their cell walls removed, easier to get dna in
corn and soybeans, Bacillus thuringiensis makes protein that kills certain insect larvae
use an organism to remove toxin from the environment
gene targeting
occurs when the new DNA recombines precisely with the gene on the chroosome (homologous recombination)
severe combined immune deficiency, immune system doesnt function, bubble boy
adenosine deaminase
(ADA) an enzyme involved in the degradation of purines
ADA deficiency
when ADA is not there, deoxyATP accumulates, this is toxic to T cells and without T cells, B cells arent activated, the immune response doesnt happen
SCID treatments
Bone marrow transplant, transfusions, PEG-ADA, remove white blood cells, add normal ADA gene then reintroduce blood cells, add normal gene to stem cells that will become T cells
ornithine transcarbamylase (OTC) deficiency
x-linked recessive disorder in which amino acids are not broken down properly and ammonia accumulates causing brain destruction
Jesse Gelsinger
a mosaic for OTC deficiency, recieved an adenovirus vector with the OTC gene in it
ex vivo gene therapy
cells are removed from the body, the vector with the normal gene is added to the cells, and the cells are reintroduced into the body
in situ gene therapy
the vector with the normal gene are injected into specific cells (melanoma)
somatic gene therapy
correct the somatic cells that are affected by the disease. this is not passed onto children
germline gene therapy
alters dna of gamete or zygote
adeno-associated virus, nontoxic, small, integrates into specific site on chromosome
adenovirus, bigger, but causes an immune response
herpes virus
infects nerve cells
nontoxic, stable but imprecise integration in genome
suicide gene therapy
use a vector that only infects dividing cells (tumor cells). the vector delivers a gene that encodes an enzyme that becomes a toxin when exposed to a drug (enzyme=thymidine kinase; drug=ganciclovir). diving (tumor) cells take up vector, make enzyme, then die with drug.
cancer vaccines
melavoma cells are on skin surface. some of the melanoma cells were removed given a gene that incodes interleukins (proteins that cause an immune response), and the immune system shrank the tumor. also add vector that expresses a foreign membrane protein. T cells attack.
the study of chromosomes, and the association of chromosome variations with specific diseases
repetitive DNA sequences – often stains darker.
DNA stretches with more protein-encoding genes – often stains lighter.
tips of the chromosome. They consist of the sequence TTAGGG repeated MANY times. They get shorter with each mitotic division.
pinched-in part of the chromosome where spindle fibers attach.
alpha satellite DNA
171-base DNA sequence that is repeated many times at the centromere
part of the centromere during interphase
structure made of many centromere-associated proteins that is the point of attachment for spindle fibers during mitosis.
centromere protein A
controls replication of the centromeres
areas of the chromosome that extend inward towards the centromere from the ends. They are from 8000 to 300,000 bases long. They go from repeated sequences closer to the telomeres to protein encoded genes closer to the centromere.
a picture of the chromosomes isolated from cells in metaphase. The chromosomes are organized according to size and other landmarks.
Fluorescence in situ hybridization: use fluorescent tags specific for each chromosome. A computer combines all of the different tags.
a needle and syringe are used to collect amniotic fluid by going through the abdomen of a woman 15 or 16 weeks pregnant. The cells are cultured for about a week and then karyotypes are done. Biochemical tests can also be done on the fluid
chorionic villus sampling
chorionic villi are structures that will become part of the placenta. Cells are collected in a long tube inserted through the vagina into the uterus. This procedure can be done as early as the 10th week of pregnancy. Slightly less accurate, slightly more risky, and biochemical tests cannot be done, but results are known sooner.
fetal cell sorting
some fetal cells cross the placenta and end up in the mother’s blood stream. The cells can be treated with fluorescent antibodies to maternal or fetal antigens. The tagged cells can then be sorted with a fluorescence-activated cell sorter.
centromeres in the middle.
centromeres off-center. This results in a short arm (p for petite) and a long arm (q)
centromeres VERY close to one end.
centromeres at one end.
more than 2 entire sets of chromosomes. Lethal condition – 15% of all miscarriages. 2/3 result from 2 sperm fertilizing 1 egg.
missing or gaining one or more chromosomes. Most result in miscarriages. Sex chromosome aneuploidies are less severe than autosomal aneuploidies.
only have on of a chromosome – not a pair.
have 3 copies of a chromosome.
during meiosis, chromosomes do not separate properly
down syndrome
trisomy 21 physical characteristics – extra fold in eyelid, short stature, straight hair, tongue protrudes through lips. Internal problems. 25% risk of Alzheimer’s after age 40. Variable intelligence.
edward syndrome
trisomy 18 heart defects, displaced liver, slow growth, oddly clenched fist, profoundly retarded. Most fetuses are miscarried.
patau syndrome
trisomy 13 very rare. Small or missing eyes, or cyclops. Abnormal internal organs, small head, cleft lip or palate. Most fetuses are miscarried.
turner syndrome
XO some have partial deletions of X. Short women who do onto develop sexually (unless given hormone treatments). Slight webbing at back of neck. Normal intelligence.
XXX tall, menstrual irregularities, normal to slightly below normal intelligence. 2 of the 3 X’s are inactivated
kleinfelter syndrome
XXY feminized, infertile males. Most cases are not severe, and men do not realize they have it until they try to reproduce.
XYY syndrome
very tall, acne, speech and reading problems, 96% are normal. “Jacobs syndrome” – 1965, Patricia Jacobs – XYY men tended towards violence. Not true.
part of the chromosome is missing
part of the p arm of chromosome 5 is missing. High-pitched cry, mentally retarded, developmentally delayed.
part of a chromosome is repeated. Size of duplication determines symptoms
robertsonian translocation
long arms of 2 non-homologous chromosomes joined into 1 BIG chromosome. Short arms missing.
part of 1 chromosome is stuck on a non-homologous chromosome. Often exchange between chromosomes is involved.
reciprocal translocation
equal exchange between 2 non-homologous chromosomes.
part of the chromosome has been flipped around. This may not give any phenotype, but it will probably interfere with meiosis
both arms are the same. Sister chromatids divide along the wrong plane.
ring chromosomes
telomeres are lost or double-stranded breaks occur leaving sticky ends that fuse.