BIOCHEM FINALS – BSN 1-4

LIPIDS
- Lipids are non polar (hydrophobic) compounds, soluble in
organic solvents.
- Most membrane lipids are amphipathic, having a non-
polar end and a polar end. - The structures of some typical fatty acids. Note that most
- The most common monomer of lipid is triglycerides. naturally occurring fatty acids contain even numbers of
- When you think of fats, you should know that they are carbon atoms and that the double bonds are nearly
lipids. Lipids are also used to make steroids and waxes. always cis and rarely conjugated

• Lipids: a heterogeneous class of naturally occurring  Building blocks for triglycerides and phospholipids
organic compounds classified together on the basis of  A chain of carbon and hydrogen atoms with a carboxyl
common solubility properties group at the alpha end and a methyl group at the omega
• insoluble in water, but soluble in aprotic end
organic solvents including diethyl ether,
chloroform, methylene chloride, and acetone
• Amphipathic in nature
• Lipids include:
• Open Chain forms
• fatty acids, triacylglycerols, sphingolipids,
phosphoacylglycerols, glycolipids,
• lipid-soluble vitamins
• prostaglandins, leukotrienes, and
thromboxanes • Lipids with fatty acids:
• Cyclic forms Waxes
• cholesterol, steroid hormones, and bile acids Fats and oils (trigycerides)
IMPORTANCE OF LIPIDS Phospholipids
• They are a great source of STORED ENERGY.
• They INSULATE the body to maintain normal body • Lipids without fatty acids
temperature and they CUSHION the internal organs for Steroids
protection.
• They produce hormones for the body called STERIODS. SATURATED AND UNSATURATED FATTY ACIDS
• They waterproof surfaces of animals, plants, and fruits- COOH
these are waxes.
WHERE ARE THEY FOUND? palmitic acid, a saturated acid
• In plants - in the seeds
• In animals - in adipose tissue, COOH
- connective tissue
• Lipids make up the cell membrane of all cells.
HEALTH EFFECTS OF LIPIDS palmitoleic acid, an unsaturated fatty acid
• Risks from trans fats
• Risks from cholesterol
• Risks from saturated fats PROPERTIES OF SATURATED FATTY ACIDS
• Benefits from monounsaturated fats and • Contain only single C–C bonds
polyunsaturated fats • Closely packed
• Benefits from omega-6 and omega-3 fats • Strong attractions between chains
- may reduce blood cholesterol & help prevent cancer • High melting points
TYPES OF LIPIDS • Solids at room temperature
FATTY ACIDS
• Fatty acid: an unbranched-chain carboxylic acid, most PROPERTIES OF UNSATURATED FATTY ACIDS
commonly of 12 - 20 carbons, derived from hydrolysis • Contain one or more double C=C bonds
of animal fats, vegetable oils, or • Nonlinear chains do not allow molecules to pack
phosphodiacylglycerols of biological membranes closely
• In the shorthand notation for fatty acids the number of • Few interactions between chains
carbons and the number of double bonds in the chain • Low melting points
are shown by two numbers, separated by a colon. • Liquids at room temperature
They are Insoluble in water, and some contain double bonds
AMBAT
BIOCHEM FINALS – BSN 1-4

SATURATED AND UNSATURATED FATTY ACIDS HELP SHAPE 2. Insulation & protection
FOODS 3. Cell membrane constituents

HEALTH EFFECTS OF FATS

• Excess fat intake contributes to many diseases
including:
1. Obesity
2. Diabetes
3. Cancer
4. Heart disease
▪ How?
1. High fat diets = high kcal diets
2. High saturated fat intake raises blood
cholesterol
3. High fat intakes may promote cancer

TRIGLYCERIDES
• Most common lipid in both foods and the body
• Make up about 95% of lipids found in foods
Functions:
• Add texture
• Makes meats tender
• Preserves freshness
• Stores as adipose tissue
for energy
1. Predominate form of fat in foods and major storage form of
fat in the body
2. Structure – composed of 3 fatty acids + glycerol

HARMFUL FATTY ACIDS - Triacylglycerol (triglyceride): an ester of glycerol with three

fatty acids
- natural soaps are prepared by boiling triglycerides
(animal fats or vegetable oils) with NaOH, in a reaction called
saponification (Latin, sapo, soap)

Three fatty acids connected to a glycerol backbone

• The shape of a triglyceride is like the letter “E”

FATS AND OILS
- formed from glycerol and fatty acids
FUNCTIONS:
• Source of energy
• Form body structures
• Regulate metabolism
• Enhance absorption of fat-soluble vitamins
• Provide insulation to help regulate body temperature PROPERTIES OF TRIGLYCERIDES
• Cushion major organs Hydrogenation
• In the body, fats provide: • Unsaturated compounds react with H2
1. Energy – 9 kcals/gm • Ni or Pt catalyst
A. Supplies 60% of body’s energy needs at rest • C=C bonds C–C bonds
B. Stored as adipose tissue
AMBAT
BIOCHEM FINALS – BSN 1-4

STEROLS
• More complex than phospholipids or triglycerides
• Four connecting rings of carbon and hydrogen
• Do not provide energy
• Cholesterol is the best known sterol
• Cis vs. trans-fatty acids • Found in every cell in the body
• In nature, most double bonds are cis meaning that the • Helps with numerous body processes
hydrogens next to the double bonds are on the same
side of the carbon chain. When a fat is partially
hydrogenated, some of the double bonds change from
cis to trans

WAXES • Phytosterols – major plant sterols

• esters of fatty acids with long chain monohydric
alcohols Structure consists of carbon rings
• may also contain hydrocarbons
• Waxes are widely distributed in nature:
➢ The leaves and fruits of many plants have
waxy coatings, which may protect them from
dehydration and small predators.
➢ The feathers of birds and the fur of some
animals have similar coatings which serve as a
water repellent.
➢ Carnuba wax is valued for its toughness and
water resistance.
• A complex mixture of esters of long-chain carboxylic
acids and alcohols
• Found as protective coatings for plants and animals ▪ Important part of:
1. Sex hormones – testosterone
2. Vitamin D
3. Bile (aids fat digestion)
4. Adrenal hormones - cortisol
5. Cholesterol – in foods and made by the liver;
dietary sources include egg yolks, liver, meats, dairy products

SOAPS
• Soaps form water-insoluble salts when used in water
containing Ca(II), Mg(II), and Fe(III) ions (hard water)
• Reactions with acids/bases as catalysts
• Salts formed by saponification
Structures of some waxes and sphingolipids. • Hydrolysis of triacylglycerols.
• The term saponification refers to
STEROIDS • the reactions of glyceryl ester with sodium or
• Steroids: a group of lipids that have fused-ring potassium hydroxide to produce a soap, which is the
structure of 3 six-membered rings, and 1 five- corresponding salt
membered ring. • of the long-chain fatty acid.
• The steroid of most interest in our discussion of
biological membranes is cholesterol

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BIOCHEM FINALS – BSN 1-4

HYDROLYSIS Phospholipids in foods:

• Triglycerides split into glycerol and three fatty acids (H+ • Lecithin
or enzyme catalyst) • egg yolks
• “hydro” means water and “lysis” means break apart • Soybeans
• Addition of water to a compound to split it into • wheat germ
smaller subunits • peanuts
• Split by water and acid or enzyme catalyst
• Produce glycerol and 3 fatty acids

SPHINGOLIPIDS
• Contain sphingosine, a long-chain amino alcohol
sphingosine
• Found in plants and animals
• Abundant in nervous system
• Bares structural similarity to phospholipids
PHOSPHOLIPIDS
1. Functions: part of cell membranes and acts as an emulsifier
(helps keep fats in solution)
2. Not a dietary essential; made by the liver

BIOLOGICAL MEMBRANES
• Every cell has a cell membrane (plasma membrane)
• Eukaryotic cells also have membrane-enclosed
GLYCOLIPIDS
organelles (nuclei, mitochondria…etc)
• Glycolipid: a compound in which a carbohydrate is
• Molecular basis of membrane structure is in lipid
bound to an -OH of the lipid
component(s):
• In most cases, sugar is either glucose or galactose
• polar head groups are in contact with the
• many glycolipids are derived from ceramides
aqueous environment
• Glycolipids with complex carbohydrate moiety that
• nonpolar tails are buried within the bilayer
contains more than 3 sugars are known as gangliosides
• the major force driving the formation of lipid
bilayers is hydrophobic interaction
• the arrangement of hydrocarbon tails in the
interior can be rigid (if rich in saturated fatty
acids) or fluid (if rich in unsaturated fatty
acids)
• Plant membranes have a higher percentage of
unsaturated fatty acids than animal membranes
• The presence of cholesterol is characteristic of animal
rather than plant membranes
• Animal membranes are less fluid (more rigid) than
plant membranes
PHOSPHOLIPIDS • The membranes of prokaryotes, which contain no
• Hydrophilic on one end; hydrophobic on the other appreciable amounts of steroids, are the most fluid
• Make up the phospholipid bilayer in the cell
membrane
• Lecithin (a.k.a. phosphatidylcholine)
• A major phospholipid in the cell
membrane
• Used as an emulsifier in foods
• Synthesized by the liver

AMBAT
BIOCHEM FINALS – BSN 1-4

LIPID BILAYERS VITAMIN A

• The polar surface of the bilayer contains charged • Vitamin A (retinol) occurs only in the animal world
groups which consists of phopholipids. • Extensively unsaturated hydrocarbon (-carotene)
• The hydrophobic tails lie in the interior of the bilayer • Vitamin A is found in the plant world in the
form of a provitamin in a group of pigments
called carotenes
• enzyme-catalyzed cleavage of b-carotene
followed by reduction gives two molecules of
vitamin A

MEMBRANE LAYERS
• Both inner and outer layers of bilayer contain mixtures
of lipids
• Compositions on inside and outside of lipid bilayer can
be different
• This is what distinguishes the layers

VITAMIN D
• group of structurally related compounds that are
involved in the regulation of calcium and phosphorus
metabolism
• the most abundant form in the circulatory
system is vitamin D3

Effect of Double Bonds on the Conformations of Fatty Acids

• Kink(s) in hydrocarbon chain
• Causes disorder in packing against other chains
• This disorder causes greater fluidity in membranes
with cis-double bonds vs...... saturated FA chains

Figure 8.30 Reactions of vitamin D. The photochemical cleavage

occurs at the bond shown by the arrow; electron
rearrangements after the cleavage produce vitamin D3. The
final product, 1,25-dihydrocholecalciferol, is the form of the
vitamin that is most active in stimulating the intestinal
absorption of calcium and phosphate and in mobilizing calcium
Lipid-Soluble Vitamins and Their Function for bone development.
• Vitamins are divided into two classes: lipid-soluble and
water-soluble
VITAMIN E
• The most active of vitamin E is a-tocopherol
• Vitamin E is an antioxidant; traps HOO and
ROO radicals formed as a result of oxidation
by O2 of unsaturated hydrocarbon chains in
membrane phospholipids

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BIOCHEM FINALS – BSN 1-4

HORMINAL CONTROL OF APPETITE

• Certain regulatory pathways control one’s desire to eat

Figure 8.31 The most active form of vitamin E is a-tocopherol.

VITAMIN K
• Vitamin K has an important role in the blood-clotting
process
• Long unsaturated hydrocarbon side consists of  If we are full, the amount of glucose concentration
repeating isoprene units will increase then insulin will be released to store the
glucose.
 The insulin will go and bind receptors in the
hypothalamus and block these receptors to indicate
to the brain that you are full.
 If you have a low level of glucose then you will not be
releasing insulin, hence there will be no blocking of
the receptors to indicate that you are full.
 If we eat fatty foods, the amount of lipids will
increase releasing leptin to block and bind to
receptors in the hypothalamus to indicate that we
are full already.
 When the stomach is empty, ghrelin is released to
tell the hypothalamus that we are hungry.
 Leptin level rarely change because it is based on the
Figure 8.32 Vitamin K. (a) The general structure of vitamin K, adipose in the body and amount of lipid you have in
which is required for blood clotting. The value of n is variable, the blood.
but it is usually ,10. (b) Vitamin K+ has one unsaturated isoprene
unit; the rest are saturated. Vitamin K2 has eight unsaturated
METABOLISM
isoprene units.
- Living organisms create and maintain order. To achieve
the order, living organisms perform a never-ending
PROSTAGLINS AND LEUKOTRIENES
stream of chemical reactions.
• Prostaglandins: a family of compounds that have the
- Metabolism is the set of chemical reactions that occur
20-carbon skeleton of prostanoic acid
in living organisms in order to maintain life.
• First detected in seminal fluid…from prostate
- Anabolism + Catabolism = Maintaining life
• The metabolic precursor is arachidonic acid (20 carbon
atoms: 4 double bonds)
• Production of prostaglandins from arachidonic acid
occurs in several steps.
LEUKOTRIENES
• Compounds also derived from arachidonic acid
• Found in white blood cells (leukocytes)
• Consists of 3 conjugated double bonds
• An important property is constriction of smooth
muscles, especially in the lungs
- Anabolism, the energy- requiring process by which
small molecules are joined to form larger ones. It
occurs in all cells of the body.
- Catabolism is the energy- releasing process by which
large molecules are broken down into smaller ones. It
begins during digestion.

AMBAT
BIOCHEM FINALS – BSN 1-4

METABOLITES • Stage II. Amino acids, fatty acids and glucose are
- Metabolites are the intermediates AND products of oxidized to common metabolite (acetyl CoA)
metabolism. • Stage III. Acetyl CoA is oxidized in citric acid cycle to
- Primary, which is directly involved in the normal CO2 and water. As result reduced cofactor, NADH2 and
growth, development and reproduction. FADH2, are formed which give up their electrons.
- Secondary which is not involved in those processes but Electrons are transported via the tissue respiration
usually has important ecological function like chain and released energy is coupled directly to ATP
antibiotics. synthesis.

- Metabolome is the complete set of small molecule • Anabolism

metabolites found within a biological sample. - Anabolism can also be divided into stages, however
- Metabolomics is the study of metabolome. the anabolic pathways are characterized by
divergence.
METABOLIC PATHWAY - Monosaccharide synthesis begin with CO2,
oxaloacetate, pyruvate or lactate.
LINEAR CYCLIC
Amino acids are synthesized from acetyl CoA, pyruvate
or keto acids of Krebs cycle.
Fatty acids are constructed from acetyl CoA.
- On the next stage monosaccharides, amino acids and
fatty acids are used for the synthesis of
polysaccharides, proteins and fats.
LIGHT REACTION
• In Light reactions (Photosynthetic electron-transfer
reactions), the solar energy is utilized to produce ATP and
NADPH.
• The energy derives from sunlight energizes an electron
in the green organic pigment chlorophyll, enabling the
Spiral pathway (fatty acid biosynthesis) electron to move along an electron-transport chain in
the thylakoid membrane

Photosynthetic organisms use sunlight to synthesize organic

molecules THE ROLE OF ELECTRON TRANSPORT IN
METABOLISM
• Electron transport is carried out by four closely related
multi-subunit membrane-bound complexes and two
electron carriers, coenzyme Q and cytochrome c
▫ In a series of oxidation-reduction reactions,
electrons from FADH2 and NADH are
transferred from one complex to the next
NADPH - Nicotinamide Adenine Dinucleotide Phosphate until they reach O2
Acetyl –COA - Acetyl-coenzyme A ▫ O2 is reduced to H2O
STAGES OF METABOLISM ▫ As a result of electron transport, protons are
• Catabolism pumped across the inner membrane to the
• Stage I. Breakdown of macromolecules (proteins, inter membrane space, creating a pH gradient
carbohydrates and lipids to respective building blocks.

AMBAT
BIOCHEM FINALS – BSN 1-4

• Isomerization of dihyroxyacetone phosphate to give

glyceraldehyde-3-phosphate

ENERY GENERATING METABOLISM IN MITOCHONDRIA

• In mitochondria, the metabolism of sugars in
• During the electron-transport process, H+ is pumped completed: the pyruvate is oxidized by O2 to CO2 and
across the thylakoid membrane, and the resulting H2O, producing 15 times more ATP than the number of
electrochemical proton gradient drives the synthesis of ATP produced in glycolysis alone.
ATP in the stroma.
• Then high-energy electrons together with H+ convert ATP PRODUCTION IN THE MITOCHONDRION
NADP+ to NADPH. • The production of ATP in the mitochondria is the result
DARK REACTION of oxidative phosphorylation
• In Dark reactions ( Carbon-fixation reactions), the ATP • The proton gradient establishes a voltage gradient
and NADPH produced from the light reactions serve as • The proton and voltage gradients together provide the
the source energy and reducing power to drive the mechanism to couple electron transport with
conversion of CO2 to sugars. phosphorylation of ADP
GLYCOLYSIS
• In Dark reactions ( Carbon-fixation reactions), the ATP
and NADPH produced from the light reactions serve as
the source energy and reducing power to drive the
conversion of CO2 to sugars.
The Overall Pathway of Glycolysis
• Glycolysis is the first stage of glucose metabolism
• One molecule of glucose is converted to fructose-1,6-
bisphosphate, which gives rise to two molecules of ACETYL-COENZYME A FORMATION
pyruvate • Each pyruvic acid moves from the cytoplasm into a
• It plays a key role in the way organisms extract energy
mitochondrion, where enzymes remove a carbon atom
from nutrients from the three-carbon pyruvic acid molecule to form
• Once pyruvate is formed, it has one of several fates CO2 and two-carbon acetyl group.
• Hydrogen ions and electrons are released in the
reaction, which can be used to produce NADH. Each
acetyl group combines with acetyl –coA.

THE REACTION OF GLYCOLYSIS

• Phosphorylation of glucose to give glucose-6-
phosphate
• Isomerization of glucose-6-phosphate to give fructose-
6-phosphate CYTRIC ACID CYCLE
• Phosphorylation of fructose-6-phosphate to yield • Each acetyl-coA combines with four-carbon molecule
fructose-1,6-bisphosphate to form a six-carbon citric acid molecule, which enters
• Cleavage of fructose-1,6,-bisphosphate to give the citric acid cycle.
glyceraldehyde-3-phosphate and dihyroxyacetone
phosphate
AMBAT
BIOCHEM FINALS – BSN 1-4

• It is a series of reactions wherein six-carbon citric acid G PROTEINS

molecule is converted into a four-carbon molecule. G proteins - are also known as guanine nucleotide-binding
The four-carbon molecule then combine with another proteins
coA molecule to form another citric acid molecule. - are a family of proteins that act as molecular
switches inside cells
- are involved in transmitting signals from a variety
of stimuli outside a cell to its interior.

TWO TYPES OF G-PROTEINS

• Stimulating G protein (Gs)
▫ Activate adenylate cyclase
• Inhibitory G proteins (Gi)
▫ Inhibit adenylate cyclase

ALLOSTERIC ENYMES
• Allosteric enzymes have two or more binding sites. An
active site that recognizes the substrates and a
regulatory site that recognizes a regulatory molecule.
• It is thought that proteins are allosteric: they can adopt
• During the cycle, two carbon atoms are used to form to two or more slightly different conformations, and a
carbon dioxide and energy, H+ and electrons are shift from one to another caused by the binding of a
released. Most of the energy and electrons are used to ligand can alter their activity.
form NADH molecules and another carrier molecule,
flavin adenine dinucleotide (FADH2) NUCLEIC ACIDS
- Friedrich Miescher in 1869
- isolated what he called nuclein from the nuclei of pus
cells
- Nuclein was shown to have acidic properties, hence it
was called nucleic acid
- Function:
o genetic material
o Stores information
o genes
o blueprint for building proteins
▪ DNA → RNA → proteins
▪ transfers information
METABOLISM IS ORGANIZED AND REGULATED • blueprint for new cells
• Different cell types require different sets of enzymes. • blueprint for next
Different tissues make distinct contributions to the generation
chemistry of the organism as a whole. - Examples:
• Metabolism is highly regulated to permit organisms to o RNA (ribonucleic acid)
respond to changing conditions. ▪ single helix
o DNA (deoxyribonucleic acid)
FEED-DORWARD ACTIVATION ▪ double helix
• Metabolite early in the pathway activates an enzyme - Structure:
further down the pathway o monomers = nucleotides

 3 parts
 nitrogen base (C-N ring)
 pentose sugar (5C)
• Cell controls enzymatic activities by confining sets  ribose in RNA
of enzymes to particular subcellular compartments.  deoxyribose in DNA
• Allosteric enzymes  phosphate (PO4) group
• Enzymes are covalently modified to control their
activity.

AMBAT
BIOCHEM FINALS – BSN 1-4

DNA MOLECULE
 Double helix
 H bonds between bases join
the 2 strands
 A :: T
 C :: G
 H bonds = biology’s weak bond
• easy to unzip double helix for
replication and then re-zip for storage
THE DISTRIBUTION OF NUCLEIC ACIDS IN THE EUKARYOTIC • easy to unzip to “read” gene and then re-
CELL zip for storage
• DNA is found in the nucleus with small amounts in
mitochondria and chloroplasts COPYING DNA
• RNA is found throughout the cell  Replication
 2 strands of DNA helix are complementary
 2 types of nucleotides  have one, can build other
 different nitrogen bases  have one, can rebuild the whole
 purines
 double ring N base WHEN DOES A CELL COPY DNA?
 adenine (A)  When in the life of a cell does DNA have to be copied?
 guanine (G)  cell reproduction
 pyrimidines  mitosis
 single ring N base  gamete production
 cytosine (C)  meiosis
 thymine (T) DNA REPLICATION
 uracil (U)  DNA in the chromosomes replicates itself every cell
division
 Maintains correct genetic information
 Two strands of DNA unwind
 Each strand acts like a template
 New bases pair with their complementary base
 Two double helixes form that are copies of original
NUCLEIC POLYMER DNA
 Backbone
 sugar to PO4 bond CLONING
 phosphodiester bond • Recombinant DNA- DNA molecules that contain
 new base added to sugar of previous covalently linked segments derived from 2 or more
base DNA sources
 polymer grows in one direction • Sticky Ends can be used to construct Recombinant
 N bases hang off the DNA
sugar-phosphate backbone • DNA Ligase- seals nicks in the covalent structure
• Plasmid- small circular DNA that is not part of the main
PAIRING OF NUCLEOTIDES circular DNA chromosome of the bacterium.
 Nucleotides bond between • Cloning- The process of making identical copies of DNA
DNA strands
 H bonds Basically, human cloning is the artificial process of making a
 purine :: pyrimidine genetic twin of a person. This means a person could literally
 A :: T become the parent of their own twin sibling or the parent of
 2 H bonds anyone’s twin.
 G :: C Reasons for allowing human cloning:
 3 H bonds • Infertility
• Genetic Illness
• Vanity: Bringing a child into the world should not about
our narcissism, vanity, or an attempt at indirect
immortality, because we are all unfairly biased for
ourselves and our genes.

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BIOCHEM FINALS – BSN 1-4

• Super Humans
• Curing Diseases
• Body Replacements
• Because We Can

INFORMATION TANSFER IN CELLS

• Information encoded in the nucleotide sequence of
DNA is transcribed through RNA synthesis
• Sequence then dictated by DNA sequence
• Central dogma of biology

Figure 13.19 Steps involved in the construction of a DNA library.

All the DNA of a given organism is extracted and treated with a
restriction enzyme. The DNA fragments are incorporated into
bacterial plasmids. Specific clones can be selected. The
remaining clones are saved for future use.

• A DNA library is a collection of clones of an entire

genome
• The genome is digested with restriction enzymes and
the pieces are cloned into vectors, and transformed
into cell lines
• Specific radioactive probes to a sequence of interest
are reacted to filters that have copies of the bacterial
colonies in the library
GENETIC ENGINEERING
• When an organism is intentionally altered at the
molecular level to exhibit different traits, it has been THE POLYMERASE CHAIN REACTION
genetically engineered • It is possible to increase the amount of a given DNA
• One focus of genetic engineering has been gene many times over without cloning the DNA
therapy, where cells of specific tissues in a living • This method of amplification is known as the
person are altered in a way that alleviates the affects Polymerase Chain Reaction (PCR)
of a disease
• DNA recombination can occur in nature
• The reproductive power of bacteria can be used to
express large quantities of a mammalian protein of
interest, however, process can be complicated

DNA LIBRARIES • Any chosen DNA can be amplified, and it does not
• Can we take all the DNA of an organism and clone it in need to be separated from the rest of the DNA in a
chunks of reasonable size sample before the procedure is applied
• The result of this is a DNA library
• Several steps involved in construction of the library DNA FINGERPRINTING
• DNA samples can be studied and compared by DNA
fingerprinting
• DNA fingerprinting is a technique that shows the
genetic makeup of living things. It is a method of
finding the difference between the satellite DNA
regions in the genome.”

AMBAT
BIOCHEM FINALS – BSN 1-4

• DNA is digested with restriction enzymes and then run

on an agarose gel
• When soaked in ethidium bromide, the DNA fragments
can be seen directly under UV light
• If greater sensitivity needed or if number of fragments
would be too great to distinguish the bands, technique
can be modified to show only selected DNA sequences
• This begins with Southern blotting

SUMMARY
• DNA can be sequenced by using several techniques,
the most common being the chain termination
method 2. SCIDS( SEVERE COMBINED IMMUNODIFICIENCY)
• Dideoxy nucleotides are used to terminate DNA - ADA Deficiency
synthesis. Multiple reactions are run with different - DNA is not synthesized in T cells and B cells because of
dideoxy nucleotide in each reaction mix accumulation of dATP
• The reactions produce a series of DNA fragments of 3. PNP DEFICIENCY
different length that can be run on a gel and the - Impairment of
sequence determined by tracking the different length - T-cell function
fragments in the lanes with the four different dideoxy - Decreased uric acid
nucleotides production and increased
purine nucleoside and
PRINCIPAL KINDS OF RNA nucleotides.
• RNA
• consist of long, unbranched chains of 4. GOUT
nucleotides joined by phosphodiester bonds - Characterized by hyperuricemia
between the 3’-OH of one pentose and the 5’- - Primary genetic problem and affect mainly males over
OH of the next 30 years old
• the pentose unit is b-D-ribose (it is 2-deoxy-D-
ribose in DNA)
• the pyrimidine bases are uracil and cytosine
(they are thymine and cytosine in DNA)
• in general, RNA is single stranded (DNA is
double stranded)

5. Orotic aciduria
- Rare genetic form present in patients who inherit lack
of two enzymes
- Causes abnormal growth, megaloblastic anemia, and
excretion of large amount of orotic acid in urine

PROTEIN SYNTHESIS
 Transcription
 Translation

NUCLEIC ACID DISORDERS

1. LESCH- NYHAN SYNDROME
- x linked genetic disorder results from the deficiency of
Hypoxanthine Guanine Phosphoribosyl Transferase
(HGPRT)
- Children with this have excess uric acid in urine

AMBAT