Effect of mutation:
1- DNA alteration by mutation is recognized as disease
2- 2- disease caused by mutation of gene can be transmitted from generation to generation
3- Defect in gene involved in the DNS repair process results in variety of disorder.
-bloom’s syndrome
-xeroderma pigmentosum
4- repair of mutant gene may resultys in the carrier of disease


Gene- gene is the particular segment of the DNA tht contains genetic information inform oof base secquence.

Genome- the total genetic make up an individual is called genome

Genetic code- genetic code is a ditactionary tht give the corresponds between a sequence of nucleotide bases and sequence of amino acid

Functions-
1-Formation and developments of bones and teeth
2-Muscle contraction
3-Nerve impulse transmission
2- Ion transport
3- Membrane integrity and permeanility
4- Blood coagulation
5- Activation of enzyme such as lipase
6- Acts as intracellular messenger’
7- Facilitates release of hormones
8- Maintains cardiac rhythmically

Forms of calcium in blood-
Normal plasma or serum ca level- 9- 11 mg/dl . it exists in three forms
1-Ionized ca ( 5mg/dl)
2- Citrate bound ca ( 1 mg/dl)
3- Protein bound (4 -5 mg/dl)

Functions-
1-Formation and developments of bones and teeth
2-Muscle contraction
3-Nerve impulse transmission
4- Ion transport
5- Membrane integrity and permeanility
6- Blood coagulation
7- Activation of enzyme such as lipase
8- Acts as intracellular messenger’
9- Facilitates release of hormones
10- Maintains cardiac rhythmically

Acid base parameters –
Hydrogen ion concentration - (35-45)nmol/l
Ph- 7.35-7.45
Total co2- 24-28 mmol/l
HCO3- 22-30 mmol/l
PaCO2- 35-45 mmhg

Classifications of Mutations -
1- Genomic mutation
2- Chromosomal mutation
3- Gene mutation
a- Point mutation
b- Frame shift mutation

Point mutation-
a- Silent mutation
b- Misense mutation
c- Nonsense mutation

Building block of DNA
1- Deoxyadenosine 5’-monophosphate
2- Deoxygunanosine 5’-monophosphate
3- Deoxcytidine 5’-monophosphate
4- Deoxythymidine 5’-monophosphate

Building block of RNA
1- adenosine 5’-monophosphate
2- gunanosine 5’-monophosphate
3- cytidine 5’-monophosphate
4- Uridine 5’-monophosphate

ADH Mechanism

Increase ECF osmolality
Stimulates osmoreceptors in hypothalamus
Increase Secretion of ADH
Increase plasma ADH
Increase reabsorption of water from distal tubules and colleting tubules
ECF volume and concentration are maintened
ECF backward normal