Recombination Flashcards
Process in which a diploid cell becomes haploid
reductive replication
What phase does recombination occur ?
It happens during prophase I
Crossing over point on chromosome
chiasmata
Recombination frequency unit
centimorgang (cM)
1 cM is is distance where recombination id expected to occur 1% if the time per generation.
frequency and physical distance varies depending on locus
X and Y genes do not cross except here
The pseudoautosomal region at the tips of the chromosomes
2 forms of cancer
familial and sporadic
BRCA1 function
has traits of a tumour supressor gene
it is recessive, as both copies must be inactive for cancer to occur
3 ways to lose heterozygosity
deletion
where part or the entire chromosome is lost
non dysjunction
where the cell replicates with an uneven chromosome distribution
-endoreduplication - where it has only one chromosome and it duplicates
- chromosome loss, where it has mmp, and p is lost
penetrance :
risk of disease for carrier of a gene
caretaker vs gatekeeper
CareTaker
- implicated in repair process
- radiation sensitivity of knockouts
- relatively low tumor rate
- associated with DNA repair proteins
GateKeeper
- limited tissue distribution
- acts to suppress growth
- transcriptional regulators
- relatively high penetrance