genetic aspects of metabolism Flashcards
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
causes of mutation, depurination
removal of a base resulting in a guess for the complementary base in the next replication
Mutagens
there are 5
intercalating agent base analogues alkylating agent deanimating agent oxidising agent
Mutagens, intercalating agent and eg
inserts themselves in between bases
ethidium bromide
results in lose or addition in base
Mutagens, base analogue and eg
incorporated into DNA
more prone to tautomeric shift
bromouracil
Mutagens, alkylating agent and eg (2)
add alkyl groups to nucleobases
can also speed up nitrosamines
Mutagens, oxidising agent just eg
H2O2
physical radiation, xray, uv
creates free radicals
consequences of mutagens
alters role of transcription splicing errors (mutation in intron/exon) coding regions, alter protein function