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Genetics Unit 2
DNA stuff
32
Biology
Undergraduate 2
03/03/2014

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Term
Aneuploidy
Definition
A form of nondisjunction that creates an integer difference between the diploid number of chromosomes and the genome.
Patau's (13), Edwards (18), and Down's (21)
Term
Patau's
Definition
Trisomy 13-autosomal aneuploidy
disruption of development of CNS
failure of craniofacial fissure to close
mortality 96%-100%
Term
Edward's
Definition
Trisomy 18-autosomal aneuploidy
less severe in abnormal formation
characteristic low set ears/small head
Term
Down's
Definition
Trisomy 21-autosomal aneuploidy
stocky, thick neck
possible CNS, but varied in severity of expression
higher frequency of nondisjuction due to aged synaptonemal complex in eggs
Term
Sex Aneuploidy
Definition
An uneven number of chromosomes in the sex chromosomes
Turner's-1 X
Kleinfelter's-XXY
TriploX
XYY
Term
Turner's Syndrome
Definition
only 1 X chromosome due to nullisomic gamete
short/ stocky and sterile
ovarian tissue formation is disrupted
abnormal secondary female characteristics due to hormonal imbalance
Only autosomal disorder with 45
Term
Klinefelter's Syndrome
Definition
XXY from disomic gamete
testicular failure and hormonal imbalance
secondary female characteristics
Term
Triplo X
Definition
XXX
little consequence with slight CNS problems
gametes will not be balanced, half are XX, other half are normal
Term
XYY
Definition
Similar to TriploX
larger body and slower
gametes give either XYY or Klinefelter
Term
autopolyploidy
Definition
self doubling of chromosomes
increased size of body (plant mostly)
sterile
Meiotic malassortment caused by spindle disruption (cold)
Term
allopolyploidy
Definition
multiplying of chromosomal number derived from another species
temporal isolation (cold or time) can be interrupted and species with similar chromosomal # can fertilize
Term
Breakage Phenomena
Definition
types of mutation
telomeric, interstitial
inversion
translocation
Term
Telomeric Failure
Definition
acentric fragment is formed from breakage
fragment is destroyed
deletion
Term
interstitial failure
Definition
2 breaks and erroneous repair leaving acentric fragment
destroyed-deletion
Term
Inversion
Definition
2 breaks and inverted repair
gene expressed differently
XO supression because during synapsis, inversion loop prevents recombinants from surviving
Term
paracentric
Definition
inversions that do not involve the centromere, no shape change
Term
pericentric
Definition
inversion that involves centromere, shape change
Term
Translocation
Definition
2 breaks on non homologous chromosomes
guaranteed loss of fertility from meiosis
Segregation of homologous chromosomes leads to balanced/unbalanced gametes
adjacent-unbalnced
alternate-balanced
robertsonian
Term
Adjacent Segregation (translocation)
Definition
the homologous chromosomes during alignment produce unbalanced gametes where there are missing genes
Term
Alternate Segregation (translocation)
Definition
after translocation, homologous chromosomes line up and form proper gametes
Term
Robertsonian Translocation
Definition
Reduces diploid #
the arms of chromosomes break and reform, large with large, small with small
forms one large chromosome and two small (usually junk) fragments
Term
Conditions for Mutation
Definition
large population size
short generation time
functional haploid
Term
transformation
Definition
process where bacteria takes in genetic material from environment 2-7 kb
Term
transduction
Definition
virally mediated transfer of genes
intemperate and temperate
Term
Intemperate transduction
Definition
bacteriophage carries out lytic cycle and kills cell (no benefit)
Term
temperate transduction
Definition
has option of lytic or lysogenic cycle
mistake cuts out the viral proponent that starts lysis
induction is the process
Term
prophage
Definition
DNA from a bacteriophage that acts in transduction
Term
nearest neighbor analysis
Definition
Term
Previous hypothesis about genes
Definition
might be complex
should be stable
mutability-variation
Term
Griffiths
Definition
Pneumonia strain IIR and IIIS
Mixed Dead IIIS with IIR and got live IIIS. proved transformation
Term
Avery, McLeod, McCarthy
Definition
added protease, RNAase, and DNAse to extracts of IIIS
the solution that had DNase was the only one that contained the IIR only. The protease and RNase had both IIR and IIIS
Term
Hershey and Chase
Definition
radiolabeling for tracing using sulfur and phosphorous
S for Protein, P for DNA.
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