chromosomal aberrations Flashcards

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1
Q

Stern’s experiment

A

illustrated the visual nature of crossing over on chromosomes. (one chorme had broken piece, one had chunk of Y, shows recombinant combinations) . drosophilia autosomes.

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2
Q

polytene chromosomes

A

When two homologus chromosomes pair up / squashed up against each other with 1,000 copies of each. unique banding patterns identify each chromosome

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3
Q

where are polytene chromosomes found

A

salivary gland

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4
Q

Inversion, and result on phenotype

A

cause of chromosomal abnormality where section abcd gets inverted and re-inserted as abdc . all chromosomal information is STILL THERE- just now out of order. Individuals usually ok, show no weird phenotype.

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5
Q

Deletion:

A

abd. Deleted c. could cause major issues.

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6
Q

Translocation:

A
  • 2 non homologous chromosomes that have broken and rejoined- just in a totally different order. Basically, one guy is abcd. Another one is lmno. And then you get abcno, lmbc. They mix up.
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7
Q

Duplication

A
  • : abcde-> abcdede. Extra material. And could replicate itself. Issue: most normal mechanisms try to maintain a dosage balance. Normal ‘dose’ is 2 copies.
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8
Q

___ of all fertilizations fail, and ___ of those are due to chromosomal aberrations

A

1/7, 1/2

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9
Q

Loop effect of deletions in polytene chromosomes

A

if one guy deleted stuff and the other didn’t, you get a big loop. Dom/recessive may or may not matter. If u deleted the dominant form on the bottom guy, all of a sudden recessive gets to express.

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10
Q
  • paracentric inverstions
A

does not include centromere. Aka, inversion of region above or below centromere

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11
Q

pericentric inversions

A

includes centromere

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12
Q

paracentric and pericentric inversions both result in___

A

chromosomal fractures and breakages causing reduced fertility. This is where we usually see the effect of these chromosomal problems. When an affected individual tries to reproduce, you get these issues due to their messed up genes

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13
Q

Translocation: what happens during reproduction and what phenotype do they express

A
  • individual will have normal phenotype
  • when that person goes to reproduce: pairing is a problem, will produce a lower frequency of viable gametes
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14
Q

Robertsonian translocation : what is it and what disease can it result in?

A
  • chromosome 21, 14, each have a weak spot. Translocation will sometimes occur. Happens at that weak point, then a chunk of each breaks off and form a lost fragment. Sometimes fragment is not lost. And you also get a new combo , this robertsonian translocation .
  • sometimes results in down syndrome phenotype if they had 2 copies of 21 and one of these in there. Basically now 2.5 regions of 21.
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15
Q

’philadelphia translocation’ and notable outcome

A
  • 90% of patients with chronic myelogenous leukemia (CML) show the Philadelphia chromosome- which is defective, cancerous, and its just bad shit put together
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16
Q

comment on bacterial reproduction- could meiosis occur?

A
  • Bacteria are asexual- they do not exchange genes when replicating/reproducing. No meiosis, no crossing over etc. just copy dna , divide in half.
17
Q

name the 3 ways bacteria exchange genetic information

A
  • However, they have 3 ways to exchange genetic information. Conjugation, transformation, transduction. Generates genetic diversity.
18
Q
  • Transduction:
A
  • exchange of genes by viral infection.
    • Bacterial virus ‘ bacteriophage’ spills open, bacteria spill out, inject DNA (containing new genes) into other bacteria cells. Often kills bacteria cells. But if it doesn’t, a bacteria is just receiving an injection of new genes.
19
Q
  • Transformation:
A
  • Transformation: when bacteria take up naked DNA from their environment.
    • Just DNA floating around in environment around the bacteria
    • May or may not make a difference to the life of that bacteria- sometimes useful genes, keep, other times spit up and chew out. Could be a gene for antibiotic resistance. This bacteria then incorporates those genes into its genome.
20
Q

Conjugation

A
  • ‘bacterial sex’ via sex pilus
    • Process where dna is exchanged through a tube . NOT sexual reproduction- its just deposit DNA through a tube.
    • Note: bacterial ‘that has plasmid’ aka circular region is F+. bacteria that does not have plasmid is F-. the F+ builds a little tube, deposits genes into F-, who then develops into F+. plasmid could bring with it various kinds of genes.
    • This is the way that MOST antibiotic resistant bacteria evolved!!!!!
21
Q

how do bacteria like MERSA, resistant to so many antibiotics, evolve?

A

conjugation

22
Q
A