| Question |
Answer |
| Mutation |
Any change in DNA sequence |
| 5 types of Silent Mutations |
3rd base of a wobbly codon
Spliced out intron
Spacer region of chromosome
Similar amino acids
Protein regions that aren’t critical
|
| 5 types of Point Mutations |
Transition
Transversion
Missense mutation
Nonsense mutation
Framesense mutation
|
| Mutant |
entity with a mutation |
| Wild type |
nonmutated, found in nature |
| Polyploidy |
Triploidy |
| 5 examples of Chromosomal aberration |
Deletion
Insertion
Duplication
Translocation
Inversion
|
| Spontaneous mutation |
no known cause |
| Induced mutation |
Intentional mutanenesis |
| Aneuploidy |
Monosomy
Trisomy
|
| Silent mutations |
mutation with no effect |
| What are point mutations? |
Changing a few, usually one, base pairs |
| Missense Mutation |
altering one amino acid |
| Nonsense Mutation |
A premature stop codon producing a truncated polypeptide |
| Frame shift mutation |
Altering reading frame by insertion or deletion of sequence that is not a multiple of 3
By one insertion change the whole reading.
|
| Chromosomal Aberrations |
Change in chromosome structure |
| Deletion |
Loss of sequence |
| Insertion sequence |
Gain of sequence |
| Duplication |
Copying sequence |
| Translocation |
Transfer of sequence |
| Inversion |
Flip flopped sequence |
| Crossing over within inversion regions results in ____________ |
Duplication and deletion of chromosome arms |
| Chromosome3 Duplication-Deletion syndrome |
Inversion |
| Cri-du-chat syndrome |
Deletion of chromosome 5
Microcephaly
Wide eyes
Severe mental retardation
Cry of the Cat
|
| What is euploidy? |
to possess complete sets of parental chromosomes |
| Haploidy |
one complete set |
| diploidy |
two complete sets |
| polyploidy |
more than two sets |
| triploidy |
three complete sets |
| What is the genetic make up of down syndrome? |
trisomy 21 |
| What genetic make up is Edwards syndrome? |
trisomy 18 |
| Can kids with edward syndrome live? |
no |
| What is genetic make up of patau syndrome? |
Trisomy 13 |
| What are symptoms of Edward's Syndrome? |
club feet
overlapping fingers
only a fraction survive to birth and most die by 1 week |
| What is patau syndrome |
central face deformities |
| Turner Syndrome genetic problem |
Monosomy XO
All or part of the x chromosome is missing |
| Symptoms of Turner Syndrome |
physical abnormalities, such as short stature, lymphoedema, broad chest, low hairline, low-set ears, and webbed neck. |
| Klinefelter syndrome genetic make up |
XXy |
| Klinefelter syndrome symptoms |
gynamastia
tall
underdevelopment of sexual organs (testes) |
| Extra sex chromosomes |
XYY
Normal phenotype
Indistinctable from wild type |
| What are endogenous mutagenic Processes? |
naturally occuring within the cell |
| What are DNA ligase errors? |
chromosomal aberrations |
| Examples of endogenous mutagenic processes |
DNA ligase errors
Unequal Crossing over
Nondisjunction
DNA Polymerase Infidelity
Cytosome p-450 System
Depurination
Deamination
Tautomeric Shifts
|
| mutagenic |
ability to produce mutations |
| mutagenesis |
process of producing mutations |
| mutagen |
factor that produces mutations |
| What are exogenous agents? |
Environmental factors, from outside the body |
| What is unequal crossing over? |
instead of exchanging in the same place it is unequal downstream |
| What is nondisjunction? |
Aneuploidies
During meiosis one of the chromosome pairs does not separate so two copies go to one cell and the other inherits nothing. |
| What is cytochrome p-450 system? |
hepatic detoxification system, osidizing hydrophobic compounds for excretion, activating some mutagens |
| What is depurination? |
purine excision |
| What is deamination? |
Excision of an amino group from A,C or G |
| What are tautomeric shifts? |
Transient changes in electron configuration of bases |
| What are examples of exogenous mutagenic agents? |
Radioactive
Chemicals |
| What is most common radioactive mutagen? |
ultraviolet light |
| What is ultraviolet light in terms of mutation? |
low energy, electromagnetic radiation, sun light, excites ele trons, induces thymine dimers |
| What are ionizing radiation in terms of mutagenesis? |
Higher energy, alpha adn beta particles, x rays, excise electrons, and induce point mutations mostly |
| What are gamma rays in terms of mutogenesis? |
very high energy, electromagnet radiation, cleave chemical bonds and induce chromosomal aberrations. |
| Chemical mutagens |
alkylating agents
strand cleavers
base analogs
intercalating agents
insertional elements |
| What are alkylating agents? |
nitrogen mustard, add methyl or ethyl groups. interfere with replication and cause poitn mutations and chromosomal aberrations |
| What are strand cleavers? |
peroxides and sulfer compounds.
React with phosphodiester bonds and create chromosomal aberrations |
| Base analogs |
bromouracil.
mimic nucleotides and cause transition mutations |
| What are intercalating agents |
Proflavin.
Wedge themselves into DNA and mimic a base pair.
Stresses phosphodiester backbones resulting in DNA breaking |
| Insertional Elements |
viruses and traonsposons.
jump in and otu of chromosomes, disrupt, add or delete sequence |
| What is proofreading? |
3' - 5' exonuclease activity of the DNA replication apparatus |
| What is DNA ligase? |
This enzyme automatically joins any free 3' OH of one strand with a 5" phosphate of another. |
| What is direct base repair? |
enzymes that correct covalently damaged bases |
| What is excision repair? |
Specific enzymes that recognize base pair mistakes or covalently damaged nucleotides, and nick an adjacent strand. Then other enzymes excise the inapproprate base pairs and fill in the gap. |
| What enzyme fills in gaps? |
DNA Polymerase beta |
| Natural selection question |
will be given a scenario and must be able to recognize what is most likely the case where natural selection is teh cause. |
Science Vocab 147928
