Mod 9- Effect of mutations on other organisms Flashcards
dis is brief
what gene controls the production of starch synthesising enzyme
SBE1
basically allows sucrose-> starch
when gets inactivated, overproduction of sucrose, so pea is wrinkled
how many chromosomes does pea have
14
2 pairs of 7
Whats the disease in humans caused by haploinsufficiency
Algille syndrome
What does algille sydrome cause
Heart abnormalities and liver problems
What protein in involved in algille syndrome and what is its funciton
CD399 (JAG1) protein
Involved in cell to cell signalling during embryo development
Abnormality cuz when only one of the two genes is active, not enough signalling protein is made
So it me
What protein in involved in algille syndrome and what is its funciton
CD399 (JAG1) protein
Involved in cell to cell signalling during embryo development
Abnormality cuz when only one of the two genes is active, not enough signalling protein is made
So no good
Name the cancer than you can be predispose to by being a carrier
retinoblastoma
Sporadic and familial
What gene is inactivated in the occurrence of retinoblastoma
RB
is a tumor suppressor gene
So when inactive
Tumor no be supress
Whats trisomy
3 copies of a chromosome
Extra gene on 21 what does it cause
downs sydrome
Monosomy?
one copy of a chromosome missing
What region in chromosome 22 is susceptible to breaks?
BCR (breakpoint cluster region)
Can result in chromosome translocation, where one part of chromosome gets stuck to anotber
How could translocation of chromosomes occur
ku proteins attract to the wrong one
So it just swaps over and binds incorrectly
See onenote
