chromosomal aberrations Flashcards
Stern’s experiment
illustrated the visual nature of crossing over on chromosomes. (one chorme had broken piece, one had chunk of Y, shows recombinant combinations) . drosophilia autosomes.
polytene chromosomes
When two homologus chromosomes pair up / squashed up against each other with 1,000 copies of each. unique banding patterns identify each chromosome
where are polytene chromosomes found
salivary gland
Inversion, and result on phenotype
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.
Deletion:
abd. Deleted c. could cause major issues.
Translocation:
- 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.
Duplication
- : abcde-> abcdede. Extra material. And could replicate itself. Issue: most normal mechanisms try to maintain a dosage balance. Normal ‘dose’ is 2 copies.
___ of all fertilizations fail, and ___ of those are due to chromosomal aberrations
1/7, 1/2
Loop effect of deletions in polytene chromosomes
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.
- paracentric inverstions
does not include centromere. Aka, inversion of region above or below centromere
pericentric inversions
includes centromere
paracentric and pericentric inversions both result in___
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
Translocation: what happens during reproduction and what phenotype do they express
- individual will have normal phenotype
- when that person goes to reproduce: pairing is a problem, will produce a lower frequency of viable gametes
Robertsonian translocation : what is it and what disease can it result in?
- 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.
’philadelphia translocation’ and notable outcome
- 90% of patients with chronic myelogenous leukemia (CML) show the Philadelphia chromosome- which is defective, cancerous, and its just bad shit put together