genetic aspects of metabolism Flashcards
(32 cards)
somatic cell
diploid
nucleosomes packed by
soleniod histones
genome size is proportional to
complexity not gene number
more complex organisms have
decreased gene density
gene density =
number of genes per megabase of genomic dna
interspersed repeats
individual repeat units
distributed around the genome
Microsatellites
tendem repeats
of units 2-4 bp
Minisatellite (ccccgggg)(ccccgggg)100
10-100bp repeated in tendem array
refered to as variable number tendem repeats
prone to mutation
mitochondria each contain
2 - 10 copies of circular dna genome
defects in chromosome 1-22 are
autosomal
cf is an
autosomal recessive disease
-cftr encodes a cl- ion transporter
autosomal dominant
huntingtons disease
neuronal degeneration
x linked disorder
haemophilia
inability to form blood clots
lack of factor 7
point mutations, transition
same type purine or pyrimidine
point mutation, transversion
different type
causes of mutation, replication error
error in bases very rare, can be repaired
repetitive regions causes slippage and insert more repeats and cant be repaired
causes of mutation, tautomeric shift
base has structural alteration, tautomerization
amino group (NH2) to
Imino group (=NH)
Keto group (-c=o) to
Enol group (c-oh)
causes of mutation, deanimation
loss of amino group
of C, A, G
C deanimation
uracil (pairs A)
A deanimation
hypoxanthine (pairs C)
G deanimation
xanthine (pairs C less strongly)
5 methyl C - T cannot
be repaired and the others can