Biology 205 Genetics Final

Front 1

Genetics

Back 1

study of heredity, genes, and variations of organisms

Front 2

Somatic Cells

Back 2

Have DNA in the nucleus
2 sets of chromosomes (one from each parent)

Front 3

Germ Cells

Back 3

sperm and egg
1 chromosome set per gamete

Front 4

Testcross

Back 4

breeding a homozygous recessive individual to an individual of unknown genotype

Front 5

Law of Equal Segregation

Back 5

the two members of a gene pair segregate from each other into the gametes

Front 6

Dominance

Back 6

determined by whether or not the phenotype can exist with only one copy of the allele

Front 7

Law of Independent Assortment

Back 7

different gene pairs are inherited independently in gamete formation

Front 8

consanguineous mating

Back 8

close blood mating

Front 9

Autosomal polymorphisms

Back 9

variations for traits within populations

Front 10

Linkage

Back 10

all genes are linked to other genes, throws off mendelian ratios

Front 11

hemizygous

Back 11

genes unmatched (in males, with the X and Y)

Front 12

Mendel's explanations (5)

Back 12

1. Particles carry contrasting phenotypes
2. particles are paired can be same or different
3. particles are split during gamete formation
4. equal segregation
5. random fertilization

Front 13

ploidy

Back 13

the number of sets of homologous chromosomes

Front 14

DNA content

Back 14

the number of copies of the haploid genome in cells

Front 15

Assumptions of Hardy-Weinberg (5)

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- Large closed population
- Completely Random mating
- equal fertility of all genotypes
- equal survival of all genotypes
- no mutations

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Hardy-Weinberg

Back 16

allele and genotype frequencies are at equilibrium after one round of random mating and do not change in the absence of other influences

Front 17

Polymorphism

Back 17

more than one allele and associated phenotype in one population

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population

Back 18

group of individuals that are of the same specie in the same place and time and evolutionary unit with same gene pool

Front 19

Gene pool

Back 19

the total extent of genetic variation within a group

Front 20

Discontinuous genetic Variation

Back 20

character found in two or more distinct forms, easy to categorize (eye colour)

Front 21

Continuous Genetic Variation

Back 21

unbroken range of phenotypes, can be measured, but difficult to categorize (height)

Front 22

factors affecting allele frequency (6)

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- migration
- mutation
- recombination
- Genetic drift
- matting patterns
- natural selection

Front 23

Genotype Frequency

Back 23

observed proportion of individuals with particular allele combo in population

Front 24

Allele Frequency

Back 24

the propotion of a specific allele present in a population based on all copies of alleles present for that gene

Front 25

Abberant euploidy

Back 25

change in chromosome number by multiples of whole set

Front 26

polyploid

Back 26

organisms that have more than 2 full chromosome sets

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monoploid

Back 27

organisms that are usually diploid but become haploid abberantly

Front 28

Genetic Load

Back 28

accumulation of harmful recessive mutations in the genome of an individual or population

Front 29

Autopolyploid

Back 29

multiple chromosome sets derived from within a single specied

Front 30

Alloployploid

Back 30

multiple chromosome sets in one organism derived from two separate species

Front 31

aneuploidy

Back 31

changes in the number of parts of chromosome sets

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inversion

Back 32

two breaks in the chromosome followed by a 180 degree flip and reattachment

Front 33

Translocation

Back 33

switching places of two parts of nonhomologous chromosomes

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Non-disjunction

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Failure to separate resulting in absent chromosomes or extra chromosomes

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deletion

Back 35

segment of chromosome broken 2x and fragment lost; ends of remaining pieces joined together

Front 36

frame-shift mutation

Back 36

changes reading from of gene, drastically alters protein or eliminates expression

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Depurination

Back 37

loss of purine bases via severed deoxyribose-purine bond

Front 38

oxidative dammage

Back 38

oxygen containing molecules, by-product of aerobic metabolism, causes several types of DNA damage

Front 39

synonymous mutations

Back 39

have no direct effect on gene production and are therefor common

Front 40

non-synonymous mutations

Back 40

can directly affect protein structure / function, selected against, rare

Front 41

nonsense mutation

Back 41

change in codon resulting in premature stop to transduction

Front 42

Transition

Back 42

replacement of one base by other in same chemical category (Purine for Purine)

Front 43

Transversion

Back 43

replacement by one base by other in different chemical category (purine to pryimadine)

Front 44

Point Mutations

Back 44

alteration of single base pair of small number of adjacent bases, map to single chromosomal location

Front 45

Pathway or gene to protein

Back 45

Gene to 1' transcript through transcription to mRNA through splicing to Ribosome through transport to Polypeptide through translation

Front 46

Molecular Cloning

Back 46

isolation defined DNA sequence and making many copies of the sequence

Front 47

Cellular Cloning

Back 47

derive populations of cells (clones) from a single cell

Front 48

Reproductive cloning

Back 48

generation of an individual that has same nuclear DNA as another individual (donor)

Front 49

Somatic Cell Nuclear Transfer

Back 49

transplant the nucleus from adult cell to enucleated egg, simulate division, implant in surrogate mother

Front 50

Therapeudic cloning

Back 50

Somatic Cell Nuclear Transfer can be used to create embryos that are not implanted

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Ribosomal "A site"

Back 51

binds incoming tRNA carrying next amino acid in sequence

Front 52

Ribosomal "P site"

Back 52

contains the growing polypeptide chain

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Ribosomal "E site"

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tRNA ready to be released from ribosome

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translation

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production of polypeptide with amino acid sequence specified by codon sequence of mRNA

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transfer RNA (tRNA)

Back 55

adapter molecule, brings amino acids to ribosome during translation

Front 56

Function of the Spliceosome

Back 56

1. bind intron sequence, recognize intron/exon boundaries
2. hold primary transcript in correct position to join ends
3. catalyze reactions that remove introns, join exons

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Coding Strand

Back 57

non-template DNA sequence that matches mRNA primary transcript

Front 58

5 needed things for PCR

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- Buffer solution
- DNA template
- Primers
- Nucleotides
- Taq Polymerase

Front 59

role of DNA template in PCR

Back 59

provides the target site of interest

Front 60

role of primers in PCR

Back 60

known sequence, anneal to single stranded DNA template at target site

Front 61

role of Nucleotides in PCR

Back 61

building blocks for new DNA strands

Front 62

role of Buffer in PCR

Back 62

maintains optimal pH and salt concentrations for polymerase

Front 63

role of Taq polymerase in PCR

Back 63

extends growing DNA strand complementary to DNA template, thermally stable enzyme

Front 64

Thermal Cycler Steps of PCR

Back 64

Denature the DNA at 95, Anneal the primers at 50-60, extension of new double strands of DNA at 72.