Biochem notes

Histone +charge
Dna -ve charge
Heterochormatin. Is inactive
Euchormatin is transcriptionalt active
A and G purine
C T U pyrimidines
Purine synthesis. PEPP amidotransferase and require glycine aspartate and
glutamune
Pyrimidine synthesis carbamyl phosphate synthease 2 and require aspartate
Polymerase 3 add nucleotide in 5 3 direction and proof reads 35 direction
Severity of damage
Frameshift nonsense misensesilent
Ecoli normallt uses glucose but when uts deficient start using lactose thru
activation of lac operon
Nucleotide repair ocur in g1 phase
Base repair in all phases
Proof reading in g2
Nucleus site for DNA amd RNA synthesis
Nucleolus site for rRNA syntgesis
Free ribosome. Protein for nucleus peroxisome and mitochondria
Membrane bound for secretort and lysosomal enzymes
RER. Protein synthesis
SER steroid synthesis and detoxification
And sequestration of calcium ions
GOLGI. Post translational modification of lrotein and lipis and distribution of them to
lysosome or plasma membrane

Lysosme degradation enzymes

Best ph for them is 5.0
Peroxisome. Oxidase enzyme for beta oxidation of long chain fatty acid
And bile synthesis
Mitochondria self replicative and synyhesize ATP
Proteosomes. Degrade ubiquitin and damaged proteins
Organelle attached to nuclear mem is RER
Organelle with concave surface towards nucleus is golgi aparatus
Cells
Permament cell. Lens skeletal amd cardiac muscle neuron and rbc
Stable. Lympho and hepatocyte
Labile. Skin hair follicle. Gut epithelium amd bone marrow
Vit c require for hydroxylation of collagen
Defective glycosylation lead to osteogenesis imperfecta
Defe tive tropocollagen linking leads to menke and ehler danlos
Fibrillin def lead to marfan
Dynein is for retrogtade axonal
Kinesin is for anterograde axonal
Southern blot is for DNA
Northern is for RNA
Weatern is for proteins
AD successive generations male to female ratio same 50% affected
AR early presentation 25% affected ratio 1
Only one generation affected
XR more common in males
XD female more affected

Mitochondrial only mother can transmit the disease

Myopathy biospy show ragged red fiber
Duchene. X link recessive
Becker.

X linked recessive

Mytonica. AD
Fragile x enlarge testes MVP and autism
Down
Epicanthal fold simian crease
Duodenal atresia megacolon ALL and AML
edward
Micrognathia low set ears and rocker botom feet
Patau
Small eyes cleft lip holoprosencephaly
High pitch cry. Cru di chat
Laughter baby. Angelmann
Elfen facies and verbal skills. Williams..
Gluconeogensis occur in liver gut and kidney
Only odd chain fatty acid can participate in gluoneogenesis
Hmp shunt yield nadph and no net atp
Cahill cycle is transfer of ammonia from muscle to liver via alanine
Cori cycle is conversion of lactose of mucle to glucose in liver
All disease related to urea cycle are autosomal recessive except ornithine
transcarbamylase deficiency
Phenylalanine.
epinephrine

Dopa dopamine thyroxine melanin epinephrine and nor

Tryptophan. Serotonin melatonin amd niacin

Arginine. Urea creatinine and no

Glutamate. Gaba and glutathione

Insulin promtoes
Glucokinase
Glycogen synthase
Acetyl coA carboxylase
HMG coA reductase
GSD
Hepatomegaly and hypoglycemia
LSD
Gaucher most common
All are AR except fabry disease
Fatty acid synthesis occur in liver lactating mamary gland and adipose tissue