Genet Flashcards
Dominant autosomal
Manifest if it heterozygote
Single gene
Eye colour GENE
OCA 2 controls amount of melanin in melanocyte
Brown eyes have active version of gene
Autosmnal dominant can cause what 3 types of change
Gain of function - new protein new function
Dominant negative effect - mostly effects diners or multimer interferes with protein it binds to
Insufficient- mutant of a gene in one copy
The second copy is enough to carry out function
Autosomal ressesive
Carriers
Y chromosome
Smaller
Less genes
X linked ressesive
Mainly mans
Men get it as they only have one x so essentially dominant
An affected father can not give it to sons
Y linked
Only affect males
All sons of affected dad effected
X linked dominat
All daughter of affected father have it
But no sons
Many of mitochondrion protein are coded by what
Nuclear genes
Who mitochondria disease pass down
Mum passes it down
Mitichdria variablity
Many genomes
Only expresse when passes threshold
Replicate via binary fission
Lose or gain mutated gene
Number of mitichdra in person causes variability
Many mitochondria in cell Segraget random Each cell have diff number of miyichdonfa Threshold needs to be reached Number of mutant can change with time