Genetic and Cytogenetic Techniques
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| what is the production of identical copies of molecules, cells, or organisms from a single ancestor? | Cloning
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| What is the name for bacterial enzymes that cut DNA at specific sites for cloning processes? | Restriction Enzymes
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| What are self-replicating DNA molecules used to transfer foreign DNA segments between host cells? | Vectors
Linking DNA segments produced by "restriction-enzymes with vectors (PLASMIDS OR ENGINEERED VIRAL CHROMOSOMES)produces Recombinant DNA
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| Recombinant DNA molecules are transferred into host cells: cloned copies are produced as host cells grow, what is the most common host cell? | Bacterium E. coli
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| What method is used for transferring DNA fragments from a gel to a membrane filter, used for hybridization experiments? | Southern Blot - Edwin Southern Developed.
Pit falls
2 days to complete
Tediou
"southern heat will transfer your tediously made p & gel-ly sandwich DNA to a dried up membrane in 2 days"
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| Northern Blot is the same as Southern blot with similar pitfalls except for what? | Detect presence of RNA instead of dna.
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| This method is a revolution in cloning and is used by amplifying DNA segments using cycles of denaturation, annealing to primers, and DNA polymerase-directed DNA synthesis. What is this called? | Polymerase Chain Reaction (PCR)
Copies DNA molecule with out Restriction enzymes, vectors, or host cells.
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| PCR (Polymerase Chain Reaction) doubles the amount of DNA with each cycle, about how many cycles does it take to reach 33.5 million copies? | 25 cycles
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| What techniques is used as: -Basic method in Human genome project -Very common practice in labs today -Examine changes in DNA -Detects differences b/t people with disease -Compare DNA among race, ethnicities, diseases, geo regions | DNA Sequencing
-technique for determining the nucleotide sequence of a fragment of DNA.
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| What reveals variations in chromosomal structure and number. ex: down syndrome caused by extra copy of chromosome 21 | Karyotypes
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| How are chromosomes visualized and what blood cells work best? | Harvested cells are stopped at metaphase, fixed onto a slide and then visualized by staining
WBC work best
-Reproduce fast
-Readily available
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| What information can be gathered from a Karyotype? Name 4 things | 1. # of chromosomes
2. Sex chromosome content
3. Presence or absence of individual chromosomes
4. Nature and extent of large structural abnormalities
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| What are the four criteria for naming chromosome bands? | Chromosome number
Arm - P (top), Q (bottom)
Region - Top (P) has 3 regions
Bottom (Q) has 4 regions
Band - numbers with in each region correlating to a specific band
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| What are two major types of chromosomal changes? | -Change in chromosomal number
-Change in chromosomal arrangement
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| There are two changes that can occur in chromosome number, Polyploidy and Aneuploidy, what do they mean? | Polyploidy - Chromo number that is a multiple of the normal haploid chromosomal set
Aneuploidy - Chromo number that is not an exact multiple of the haploid set.
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| What are two major causes of reproductive failure in humans and which one is rarely seen in live births? | 1. Polyploidy -is rarely seen in live births.
2. Aneuploidy - in humans is much higher than in other primates and mammals.
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| Of Polyploidy and Aneuploidy which one changes the number of chromosome sets? Hint: which suffix means many? | Polyploidy
-Triploidy - Chromo # 3x the haploid #, having 3 copies of all autosomes and sex chromo
-Tetraploidy - 4x the the haploid number.
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| Aneuploidy changes the number of individual chromosomes. there are two kinds, one less and one more than normal diploid number what are these called? | -Monosomy - One member of chromosomal pair is mission (one less than 2=mono)
-Trisome - ome chromo is present in 3 copies, and all others are diploid (1 more than normal 2= 3-tri)
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| What is the cause of Aneuploidy and is defined as "failure of homologous chromosomes to separate properly during meiosis." | Nondisjunction
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| What is the only autosomal Trisomy that allows survival into adulthood? | Down Syndrome (there is going to be a test question on down syndrome if I was a betting man)
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| What is the leading risk factor for trisomy? | Maternal Age
-94% mother
-6% father
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| After what maternal age does Trisomy 21 risk factor rapidly incline? | Maternal age 30
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| why is Maternal age a risk factor list two examples and explain | Meiosis is not completed until ovulation
-intracellular events increase risk of nondisjuction, resulting in aneuploidy
Maternal Selection
-Embro-uterine interactions that normally abort abnormal embryos becomes less effective.
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| What syndrome cause offspring to have: -excessive eating -small hands and feet -short stature -metal retard -70% cases deletion on chromo 15 from father -Only genetic info from Mom | Prader-Willi Syndrome
"Fratter-Milli"
-Fratter - boy, obese, dad chromo bad
-Milli - mostly female traits, small hands/feet, short, Metal, genetic info from mom
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| What syndrome involves, unusual face, short, mental retard, seizures, delete chomo 15 from mother, genetic info from father? | Angleman Syndrome
way to remember:
The only man that knows how to shake it, b/c traped in a woman's body. "shake it-seizures" "genetic info from dad"
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| What processes detects presence or absence of various DNA segments on chromosomes and is used in Clinical genetics, medicine, and species comparison/identification? | Fluorescence In Situ Hybridization FISH:
FISHermen use fluorescent lights at night to help detect presence or absence of shiny CHROMO scales in various segments of DNA (Do Not fish Areas).Also use Fluor light in DNA to clin/medically treat hook injuries.
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| What is a condition in which cells with in the same person have a different genetic makeup? | Mosaicism/// Examples: Mosaic Down syndrome; Mosaic Klinefelter syndrome; Mosaic Turner syndrome
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| what is clinical cytogenetics? | Study of chromosomes, their structure and their inheritance
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