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FISH vs. Karotype?
- FISH: DNA can be interphase or metaphase, can be usedto detect chromosomes less than 3 MB
- Karotype: DNA has to be in metaphase
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Acrocentric; metacentric; submetacentric?
- acrocentric: centromere causes p/q arms to be unequal
- metacentric: centromere is at the middle of chromosome
- submetacentric: centromere is assymetric by close to middle
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P vs Q arms?
- P: petite arm
- Q: larger arm of chromosome
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What do the genes of the p arm on acrocentric DNA code for?
rRNA genes
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What are the acrometric chromosomes?
13,14,15,21,22
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Processing of banding chromosomes in karotyping?
Take leukocytes, add mitogen (promotes mitosis), add colcichine, all hypOtonic solution to cause swelling of cells.
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G-banding? R-banding?
A-T rich areas of chromosome are died dark color. R-banding colors it the opposite way (to verify the chromosome is correctly labeled)
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Short clustered repeats of DNA near centrosome?
Satellite DNA
**Unique to DNA
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Repetitive DNA seqs. dispersed in genome?
LINE/Alu
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Does LINE or Alu code for RT?
LINE
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How do LINE/Alu cause cancer (i.e. in BRCA --> breast cancer)?
Get incorporated in genome via retrotransposition
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Names, symptoms, and of trisomy 21,18,13?
- 21: DS, open mouth
- 18: Edward's, clenched fist and weird feet
- 13: Patau's, cleft lip, deformity
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Types of FISH probing?
- 1. Whole chromosome
- 2. Locus Specific - broken down into satellite probes (bind to centromere) and telomere probes (bind to end of chromo.)
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Two types of inversion?
Pericentric: include centromere
Paracentric: does not include centromere
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Two types of deletion (interstitial and terminal)?
- Interstitial: two strand break
- Terminal: 1 break in chromosome
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Insertion (direct, inverted)?
Refers to the removal and insertion of a chromosomal segment into DNA (i.e. cut and paste mechanism)
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isochromosome?
when the p-arm of a chromosome is deleted and replaced by duplicate of its q-arm.
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When to be non-directive? when to NOT be non-directive?
non-directive: reproductive situations, appropriateness of genetic testing/aggressive therapy
directive: the patient will die unless you do this
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