Term
| What is a genetic Mutation? |
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Definition
| A perminent change in the nucleotide sequence |
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Term
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Definition
| refers to the allele or phenotype usually seen in the populations |
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Definition
| refers to the allele or phenotype different from the population. |
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Term
| define "natural selection" |
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Definition
| Evolutions (decent w/ modifications) leading to genetic varyation leading to biodiversity. |
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Definition
| early 1900's recognized the relationship between missing or deficient enzymes and heredity disease. Called them "inborn errors of metabolism" |
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Definition
| affects the protei, hemglobin which is found in red blood cells. in Sickle Cell GAG becomes GUG in the 6'th codon of the B-Globin chain. Valine Substitutes for glutamic acid. |
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Definition
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Term
| Define "germline mutation" |
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Definition
| occurs in a sperm or egg cell and may be transfered to the next generation |
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Definition
| not germ cells (all other cells) |
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Term
| Define "Somatic Mutation" |
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Definition
| Will not pass to the nexter generation but will pass to it's subset of cells |
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Term
| What are the Classes of Mutation? |
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Definition
1) Point Mutation
2) Frameshift Mutation
3) Large Deletion, insertion, and Duplication
4) Transposition |
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Term
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Definition
one base substitues for another.
- same-sense : same amino acid
- missence : different amino acid
- nonsence : stop codon instead of amino acid |
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Term
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Definition
| areas that result in mutation more often ( like that sen in achondoplasia) |
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Definition
| shor limbs prominent forehead redundent skinfolds on arms and legs. 98% afflicted have G to A mutation at nucleotide 1138 of the FGFk3 gene resulting in arginine for glycine. 80% are first members of the families w/ condition. appears associated w/ advanced paternal age. |
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Term
| Define "Frameshift Mutation" |
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Definition
alters reading frame on the strand deletion or insertion of one or two bases.
IE
- The cat ate the rat -> the ata tet her at
every codon after the deletion or insertion is out of alignment |
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Term
| Define "larger deletion insertion or dup" |
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Definition
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Term
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Definition
| non-random specific sequence of DNA that "jump" from one area to another. can increase decrease or distroy the expression of the gene whose sequence it interupts |
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Term
| Describe the origins of mutations |
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Definition
| Mutations are Spontaneous or Induced |
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Term
| Define "Spontaneous" mutations |
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Definition
latin: De Novo Mutations:
1) during DNA replication, mismatching escapes proof reading mechanism
2) isomerization occurs, atoms are aranged differently in space, bases reanger themselfs to become a similar molecule |
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Term
| what are gene mutation rates based on ? |
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Definition
the larger the gene the more likely a mutation.
the more repetitive a sequence the more likely a mutation. |
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Term
| Define "Induced" mutations |
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Definition
induced by mutagens, which are enviornmental agents that damage DNA.
1) Ionizing radiation(attack molecules)
2) UV radiation (thymine absorbs and forms a thymine dimer 'kink')
3) certain organic chemicals |
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Term
| When do DNA repair enzymes fail? |
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Definition
-at critical time in the cell cycle such as the S phase or
-when the repair enzymes are damaged |
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Term
| What are the Mitosis Phases? |
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Definition
Prophase
Metaphase
Anaphase
Telophas
Cytokenesis |
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Term
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Definition
replicated chromatin forms chromosomes
sister chromatids are joined at the centromere
centrioles apear
microtubules organize into a spindle
nuclear membrane breaks down
nucleus is no longer viisble |
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Term
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Definition
chromosome line up at the metaphase plate
spindle microtubules attach to the centromeres of choromosomes |
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Term
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Definition
-sister chromatids spereate at the centromeres
- at this point there are 92 chromosomes |
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Term
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Definition
-nuclear membrane reforms
-sindles disapear
-nucleoli reappear |
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Term
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Definition
Division of cytoplasm
follows mitosis but may overlap telphase
Actin filaments form cleavage forrow, which contracts and sperates on cell into two. each new cell contain 46 chromosomes. |
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Term
| what are the two kinds of stem cells |
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Definition
-embryotic
~totipotent can differentiate any kind of cell, express all genes
-adult
~pluripotnt, difffentiate between several genes, do not reporduce indefinately |
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Definition
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Definition
| cuts chromosomes in 1/2 by seperating homologs |
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Definition
somatic and germ cells have 2 sets of chromosomes - diploid
gamates have 1 set - haploid |
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Term
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Definition
Early Prophase 1
Late Prophase 1
Metaphase 1
Anaphase 1
Telophase 1
Meiosis II
ends in four nonidentical haploid daugther cells |
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