Exam 4 Genetics Study

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cancer

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many diseases that are due to changes in one or more genes

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tumor

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uncontrolled cell growth

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benign

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tumor stays in one place and doesn't spread to surrounding tissue

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malignant

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tumor grows into nearby tissue

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metasize

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spreads to other parts

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carcinogen

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a substance that causes cancer

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oncogens

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cause cancer when they are activated when they shouldn't be

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proto-oncogens

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trigger normal cell division, they may be transcription factors

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tumor supressor genes

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these cause cancer when they are not active

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telomerase

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if they become active in specialized cells, they will divide inapporopriately

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angiogenesis

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cause blood vessels to grow so that they have a continuous supply of nutrients

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differenciated

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cancer cells look less specialized than the normal cels

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contact inhibition

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cancer cells lose this, normal ells form a single layer then stop when they reach other cells, cancer cells pile up.

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HeLa cells

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cells from the cancer of a woman who died of cervical cancer in 1951 grow very quickly in a dish

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population studies

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looks at the incidence of a type of cancer among various populations

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case-control studies

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compares people with cancer to healthy people of the same age, sex, etc. Looks for differences.

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prospective studies

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2 groups of people follow different diets or treatments and are checked for cancer periodically

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biotechnology

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encompasses any techniques involving molecules of the cell, especially DNA

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PCR

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polymerase chain reaction, amplifies small amounts of dna

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recombinant dna

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dna from 2 or more organisms that has been joined together in the laboratory

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transgenic animal

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has the genetic change made to each of it's cells

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cohen & boyer

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1973 devised a way to cut then join together pieces of dna from different organisms

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asilomat conference

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140 "molecular biologists" gathered in california to discuss safety precautions in using this new technology. Decised physical containment and biological containment guidelines.

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ligase

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mends the missing phosphodiester bond

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vectors

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dna molecules that can carry inserted dna into a new species

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plasmid

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vector, naturally occurring small double stranded dna molecule found in dna

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bacteriophage

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vector, virus that can get into bacterial cells

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BAC

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vector, bacterial artificial chromosome

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YAC

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vector, yeast artificial chromosome

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transformation

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the process by which bacterial cells take up dna from the surrounding meduim

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microinjection

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dna is injected into a cell using a tiny glass needle

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Electroporation

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small bursts of electricity alter a cell's membrane and create tiny holes through which dna can enter

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particle bombardment

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"gun" shoots tiny metal balls coated with dna

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x-gal

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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

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genomic library

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all of the dna is cloned. the genes contain introns

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cDNA library

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cDNA is made when the enzyme reverse transcriptase makes DNA base on RNA, no introns

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DNA Probe

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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.

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antibody probe

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sometimes expression libraries are made. in these, the cloned genes are expressed. labeled antibodies will bond to the colony making th eprotein of interest

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Ti plasmid

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(tumor inducing) from the bacterium Agrobacterium tumefaciens

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protoplasts

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plant cells that have had their cell walls removed, easier to get dna in

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Bt

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corn and soybeans, Bacillus thuringiensis makes protein that kills certain insect larvae

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Bioremediation

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use an organism to remove toxin from the environment

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gene targeting

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occurs when the new DNA recombines precisely with the gene on the chroosome (homologous recombination)

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SCID

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severe combined immune deficiency, immune system doesnt function, bubble boy

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adenosine deaminase

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(ADA) an enzyme involved in the degradation of purines

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ADA deficiency

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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

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SCID treatments

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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

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ornithine transcarbamylase (OTC) deficiency

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x-linked recessive disorder in which amino acids are not broken down properly and ammonia accumulates causing brain destruction

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Jesse Gelsinger

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a mosaic for OTC deficiency, recieved an adenovirus vector with the OTC gene in it

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ex vivo gene therapy

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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

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in situ gene therapy

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the vector with the normal gene are injected into specific cells (melanoma)

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somatic gene therapy

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correct the somatic cells that are affected by the disease. this is not passed onto children

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germline gene therapy

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alters dna of gamete or zygote

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AAV

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adeno-associated virus, nontoxic, small, integrates into specific site on chromosome

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AV

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adenovirus, bigger, but causes an immune response

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herpes virus

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infects nerve cells

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retrovirus

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nontoxic, stable but imprecise integration in genome

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suicide gene therapy

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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.

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cancer vaccines

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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.

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cytogenetics

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the study of chromosomes, and the association of chromosome variations with specific diseases

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heterochromatin

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repetitive DNA sequences – often stains darker.

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euchromatin

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DNA stretches with more protein-encoding genes – often stains lighter.

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telomeres

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tips of the chromosome. They consist of the sequence TTAGGG repeated MANY times. They get shorter with each mitotic division.

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centromeres

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pinched-in part of the chromosome where spindle fibers attach.

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alpha satellite DNA

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171-base DNA sequence that is repeated many times at the centromere

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cohesions

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part of the centromere during interphase

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kinetochore

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structure made of many centromere-associated proteins that is the point of attachment for spindle fibers during mitosis.

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centromere protein A

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controls replication of the centromeres

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subtelomeres

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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.

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karyotype

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a picture of the chromosomes isolated from cells in metaphase. The chromosomes are organized according to size and other landmarks.

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FISHing

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Fluorescence in situ hybridization: use fluorescent tags specific for each chromosome. A computer combines all of the different tags.

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amniocentesis

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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

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chorionic villus sampling

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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.

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fetal cell sorting

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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.

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metacentric

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centromeres in the middle.

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submetocentric

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centromeres off-center. This results in a short arm (p for petite) and a long arm (q)

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acrocentric

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centromeres VERY close to one end.

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telocentric

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centromeres at one end.

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polyploidy

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more than 2 entire sets of chromosomes. Lethal condition – 15% of all miscarriages. 2/3 result from 2 sperm fertilizing 1 egg.

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aneuploidy

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missing or gaining one or more chromosomes. Most result in miscarriages. Sex chromosome aneuploidies are less severe than autosomal aneuploidies.

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monosomy

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only have on of a chromosome – not a pair.

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trisomy

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have 3 copies of a chromosome.

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nondisjunction

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during meiosis, chromosomes do not separate properly

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down syndrome

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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.

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edward syndrome

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trisomy 18 heart defects, displaced liver, slow growth, oddly clenched fist, profoundly retarded. Most fetuses are miscarried.

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patau syndrome

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trisomy 13 very rare. Small or missing eyes, or cyclops. Abnormal internal organs, small head, cleft lip or palate. Most fetuses are miscarried.

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turner syndrome

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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.

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triplo-X

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XXX tall, menstrual irregularities, normal to slightly below normal intelligence. 2 of the 3 X’s are inactivated

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kleinfelter syndrome

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XXY feminized, infertile males. Most cases are not severe, and men do not realize they have it until they try to reproduce.

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XYY syndrome

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very tall, acne, speech and reading problems, 96% are normal. “Jacobs syndrome” – 1965, Patricia Jacobs – XYY men tended towards violence. Not true.

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deletion

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part of the chromosome is missing

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cri-du-chat

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part of the p arm of chromosome 5 is missing. High-pitched cry, mentally retarded, developmentally delayed.

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duplication

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part of a chromosome is repeated. Size of duplication determines symptoms

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robertsonian translocation

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long arms of 2 non-homologous chromosomes joined into 1 BIG chromosome. Short arms missing.

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translocation

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part of 1 chromosome is stuck on a non-homologous chromosome. Often exchange between chromosomes is involved.

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reciprocal translocation

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equal exchange between 2 non-homologous chromosomes.

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inversions

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part of the chromosome has been flipped around. This may not give any phenotype, but it will probably interfere with meiosis

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isochromosomes

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both arms are the same. Sister chromatids divide along the wrong plane.

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ring chromosomes

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telomeres are lost or double-stranded breaks occur leaving sticky ends that fuse.