GeneticsExam3-B
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| Mutation? | a change in a gene's DNA.
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| Germline mutation? | a mutation during meiosis and is passed on through the resulting gametes.
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| Somatic mutation? | a mutation during mitosis and is only found in one person.
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| Normal hemoglobin? | has 2 alpha and 2 beta chains; the 6th amino acid of the beta chain is glutamine.
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| Sickle cell hemoglobin? | the beta chains are messed up; the 6th amino acid of the beta chain is valine.
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| Collagen? | protein found in connective tissue; formed from 3 polypeptides.
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| Early onset Alzheimer's? | a mutation in the presenilin 1 gene allows beta amyloid plaques to form earlier than usual.
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| Mutagens? | things that create mutations; x-rays, UV light, ethydium bromide.
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| Ames test? | bacterial test to see if a chemical is a mutagen.
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| T or F. The more mutant bacteria there are, the more mutagenic the chemical is. | TRUE
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| Spontaneous mutation? | a new mutation in either the sperm or egg; neither parent has the disease or carries a recessive allele.
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| Mutational hot spot? | a repeated section of DNA that is easily mutated.
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| Palidromes? | mutational hot spots.
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| Point mutations? | only one base changed; substitutions.
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| Transition? | Purine (A or G) replaces a purine or a pyrimidine (T or C) replaces a pyrimidine.
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| Transversion? | purine and pyrimidine swap.
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| Missense mutation? | one codon is changed; the resulting protein has the wrong amino acid and doesn't work; sickle cell hemoglobin.
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| Nonsense mutation? | one codon is changed into a stop codon; only part of the protein is made; the short protein doesn't work; BRCA1, missing clotting factor X1.
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| Neutral mutation? | one codon is changed; the resulting protein has the wrong amino acid, but the protein does work; hemoglobin Machida. **(you can also change the codon to a codon that codes for the same amino acid).
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| Frame shift mutations? | shifts the codon reading frame so that everything behind it is messed up.
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| Insertion? | adds extra base; Huntington's disease adds about 100 CAGs.
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| Deletion? | messing a base; Duchenne muscular dystrophy is missing large portions of the gene.
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| Tandem duplication? | 2 copies of a gene next to each other.
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| Expanding repeats? | as the repeat expands, it causes more problems; myotonic muscular dystrophy, fragile X syndrome.
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| Excision repair? | mismatched DNA is found later, the mistakes can be cut out and replaced by correct bases.
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| Nucleotide excision repair? | removes up to 30 bases at a time; usually replaces damage from chemical carcinogens and UV light.
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| Base excision repair? | repairs 1-5 bases at a time; usually replaces damage from free radicals.
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| Mismatch repair? | DNA polymerase checks for a mismatch and fixes it while the DNA strand is being replicated; usually fixes microsatellite lengths.
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| Xeroderma pigmentosum? | missing nucleotide excision repair mechanisms; prone to skin cancer.
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| Inherited colon cancer? | missing mismatch repair mechanism; prone to colon cancer.
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| Chromosomes? | condensed DNA that is visible during cell division.
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| How many pairs of chromosomes do humans have? | 23
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| Cytogenetics? | links chromosome variations to specific traits.
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| Karyotype? | a picture of chromosomes, usually sorted from biggest to smallest.
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| How to make a karyotype? | 1. Grow cells in a tissue culture flask. 2. Add Colchicine that stops mitosis at metaphase. 3. Add Giemsa dye on the cells to highlight the dark + light bands. 4. Drop the cells on a slide from 12 inches high. 5. Look at cells under powerful microscope.
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| Heterochromatin? | dark bands; mostly genes; mostly repetitive DNA.
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| Euchromatin? | light bands; mostly genes; but it is not one gene per light band.
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| Telomeres? | region at the end of chromosomes; TTAGGG repeat; gets shorter with each round of replication; short telomeres are associated with aging.
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| Centromere? | spot where sister chromatids join together; where spindle fibers attach; 171 base repeat.
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| Telocentric? | centromere on the very end of the chromosome.
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| Metacentric? | centromere is in the very middle of the chromosome.
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| Acrocentric? | centromere is close to the end of the chromosome.
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| Submetacentric? | centromere is not quite in the middle, but close; divides the chromosome into 2 arms of unequal length.
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| P arm? | short arm of the chromosome.
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| Q arm? | longer arm of the chromosome.
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| Sonogram? | ultrasound to check on baby; can see gross abnormalities, but not chromosomal problems; done 13-14 weeks after conception.
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| Amniocentesis? | take cells from fluid surrounding baby, inside amnion; grow cells to make more; do karyotyping or PCR testing for genetic diseases; done 14-16 weeks after conception.
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| Polymerase Chain Reaction (PCR)? | a technique for quickly amplifying DNA.
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| Chorionic villus sampling? | a small piece of the chorion is removed and tested for genetic diseases; done 8-10 weeks after conception.
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| Preimplantation Genetic Diagnosis (PGD)? | testing embryos for genetic diseases like sickle cell anemia, cystic fibrosis, and Tay Sachs; done 4-6 days after conception.
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| Fluorescence in situ Hybridization (FISH)? | uses probes complimentary to specific DNA sequences; if the chromosomes have the DNA sequence, the probe lights up and it is easy to see.
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| Euploid? | have a normal number of chromosomes.
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| Aneuploid? | having an abnormal number of chromosomes.
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| Triploid? | 3 copies of every chromosome.
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| Polyploid? | having more than 2 copies of every chromosome.
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| Nondisjuncture? | when the chromosomes don't separate in meiosis.
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| Trisomy? | an extra copy of one chromosome.
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| Down's Syndrome? | 3 copies of chromosome #21; trisomy 21; symptoms include mental retardation, heart problems, kidney defects, poor muscle tone; often from nondisjuncture in older women's eggs.
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| Trisomy 18? | Edward's syndrome; symptoms include severe physical and mental disabilities, heart defects, often the defects are so bad the fetus dies; often from nondisjuncture in women's eggs.
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| Trisomy 13? | Patau syndrome; symptoms include cleft palate and other facial problems, and digestive problems, often the defects are so bad the fetus dies.
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| XO (Turner Syndrome)? | female, thick neck, few secondary sexual characteristics, many have hearing defects, usually sterile; normal intelligence.
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| Monosomic? | missing one copy of one chromosome.
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| Metafemale? | XXX; normal female
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| Klinefelter's male? | XXY; effeminate, often sterile; mildly slow learners.
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| XYY? | Jacob's syndrome; tall, fertile.
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| OY? | dead.
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| Deletion? | missing pieces of a chromosome.
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| Cri du Chat? | cry of the cat syndrome; missing part of the short arm of chromosome 5; symptoms include a high pitched cry, mental retardation, delayed development and short lifespan.
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| Duplication? | a region where genes are repeated.
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| Translocation? | relocation of parts of nonhomologous chromosomes.
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| T or F? Down's syndrome can also be caused by a translocation of a piece of chromosome #21 with a piece of chromosome #14? | TRUE.
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| Robertsonian translocation? | 2 different acrocentric chromosomes lose their short arms and fuse the long arms into 1 long chromosome.
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| Reciprical translocation? | 2 different chromosomes exchange equal parts.
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| Inversions? | change the order of genes.
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| Paracentric Inversion? | does not include the centromere in the inversion.
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| Pericentric Inversion? | includes the centromere in the inversion.
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| Uniparental disomy? | when you have nondisjuncture of the same chromosome from each parent; one gamete lacks the chromosome, the other gamete has 2 copies; very rare.
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