Class 12 Biology - Chapter 5: Molecular Basis of Inheritance

Detailed NCERT-Based Notes

🧬 5.1 THE DNA

• DNA (Deoxyribonucleic acid) is a long polymer of deoxyribonucleotides.

• Length of DNA = Number of nucleotides or base pairs (bp)
• Examples of DNA length:
• Bacteriophage φX174: 5386 nucleotides
• Bacteriophage lambda: 48502 bp
• Escherichia coli (E. coli): 4.6 × 10^6 bp
• Human haploid DNA: 3.3 × 10^9 bp

Structure of Polynucleotide Chain

• Each nucleotide has:

• Nitrogenous base: Purines (Adenine, Guanine), Pyrimidines (Cytosine, Thymine in DNA; Uracil in
RNA)
• Pentose sugar: Ribose in RNA, Deoxyribose in DNA
• Phosphate group
• Nucleoside = Base + Sugar
• Nucleotide = Nucleoside + Phosphate
• Nucleotides linked via 3'-5' phosphodiester bond → forms polynucleotide chain
• Chain has directionality:
• 5' end → Free phosphate group
• 3' end → Free OH group

Double Helix Structure (Watson & Crick, 1953)

• Two polynucleotide chains coiled in right-handed manner

• Chains are antiparallel (5'→3' and 3'→5')
• Bases face inward, sugar-phosphate forms backbone
• Complementary base pairing:
• A = T (2 H-bonds)
• G ≡ C (3 H-bonds)
• Helix parameters:
• 10 bp per turn
• 0.34 nm between bp
• Pitch = 3.4 nm
• Stacking of base pairs adds to stability

Packaging of DNA Helix

• E. coli (Prokaryote):
• DNA forms loops held by basic proteins (nucleoid)
• Eukaryotes:

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 • DNA wraps around histone octamer (8 histone proteins) → forms nucleosome
• ~200 bp per nucleosome
• Appears as 'beads-on-string' under EM
• Further coils to form chromatin fibers, condenses into chromosomes
• Two types:
◦ Euchromatin: Loosely packed, active transcription
◦ Heterochromatin: Densely packed, inactive

🔍 5.2 SEARCH FOR GENETIC MATERIAL

Griffith's Experiment (1928)

• Organism: Streptococcus pneumoniae

• S strain (smooth): Virulent due to polysaccharide coat
• R strain (rough): Non-virulent
• Heat-killed S + Live R → Mouse died → Live S recovered → Transformation occurred

Avery, MacLeod, McCarty (1944)

• Separated biomolecules (DNA, RNA, proteins) from heat-killed S strain

• Only DNA could transform R → S
• DNase destroyed activity → DNA is transforming principle

Hershey & Chase Experiment (1952)

• Used bacteriophage (T2 phage) with:

• Radioactive Sulfur (^35S) → Protein
• Radioactive Phosphorus (^32P) → DNA
• Infection of E. coli → Only ^32P entered cells
• Confirmed DNA is genetic material

Properties of Genetic Material

• Criteria:
• Replication ability
• Chemical and structural stability
• Mutation for variation
• Expression as traits (phenotype)
• DNA > RNA:
• DNA: Stable, double-stranded, has thymine
• RNA: Reactive 2'-OH group, catalytic, less stable

🧪 5.3 RNA WORLD

• RNA was first genetic material in early life forms

• Acts as both genetic material and catalyst (ribozymes)

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 • DNA evolved from RNA by chemical modification for more stability

🔁 5.4 REPLICATION

Watson & Crick Model

• Semiconservative replication:
• Each daughter DNA has one old (parental) and one new strand

Meselson & Stahl Experiment (1958)

• Used E. coli grown in 15N (heavy) → switched to 14N (light)

• DNA isolated after 20, 40 min → centrifuged in CsCl
• 1st gen: Hybrid DNA
• 2nd gen: 50% light + 50% hybrid
• Proved semiconservative replication

Replication Enzymes

• DNA polymerase: DNA-dependent, synthesizes new DNA (5'→3')

• Helicase: Unwinds DNA
• SSBs: Prevent reannealing
• Primase: Adds RNA primers
• Ligase: Joins Okazaki fragments (lagging strand)

Origin of Replication

• Specific sequence where replication begins

• Needed in vectors for cloning
• In eukaryotes, occurs in S-phase of cell cycle

✍️ 5.5 TRANSCRIPTION

• Synthesis of RNA from DNA template

• Only one strand transcribed in a specific region

Transcription Unit

• 3 components:
• Promoter: RNA polymerase binds here
• Structural gene: Encodes RNA
• Terminator: Signals end of transcription
• Template strand: 3'→5' (used to make RNA)
• Coding strand: 5'→3' (same as RNA but T instead of U)

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Types of RNA

• mRNA: Carries code for protein

• tRNA: Adapter for translation; has anticodon + amino acid site
• rRNA: Structural/catalytic role in ribosome

Transcription in Prokaryotes

• RNA polymerase (core enzyme) + σ-factor → Initiation

• Elongation: NTPs added as per complementarity
• Termination: ρ-factor helps dissociate
• Transcription and translation are coupled

Transcription in Eukaryotes

• RNA polymerases:
• Pol I → rRNA (28S, 18S, 5.8S)
• Pol II → mRNA (hnRNA)
• Pol III → tRNA, 5S rRNA, snRNA
• hnRNA processing:
• Capping: Methyl G added at 5' end
• Tailing: Poly-A tail at 3' end
• Splicing: Introns removed, exons joined

🧬 5.6 GENETIC CODE

Characteristics

• Triplet: 3 nucleotides = 1 codon

• 61 codons → Amino acids
• 3 codons (UAA, UAG, UGA) → Stop
• Start codon: AUG (Methionine)
• Degenerate: Multiple codons for same amino acid
• Universal (exceptions in mitochondria/protozoa)
• Non-overlapping & comma-less

Mutation & Code

• Point mutation:
• e.g. Sickle Cell Anaemia: GAG → GUG (Glu → Val)
• Frameshift mutation:
• Insertion/deletion changes reading frame

tRNA - Adapter Molecule

• Clover-leaf structure
• Anticodon loop: Base-pairs with codon

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 • Amino acid acceptor arm
• Specific tRNA for each amino acid

🧫 5.7 TRANSLATION

• Conversion of mRNA codons → Amino acid sequence (protein)

Steps:

1. Initiation:
2. Ribosome binds mRNA at AUG
3. Initiator tRNA (tRNA^Met) binds
4. Elongation:
5. tRNAs bring amino acids to ribosome
6. Peptide bond forms between amino acids
7. Ribosome moves along mRNA
8. Termination:
9. Stop codon reached (UAA/UAG/UGA)
10. Release factor binds → Polypeptide released

Ribosome

• Composed of rRNA + proteins

• Two subunits (Large & Small)
• In prokaryotes: 70S (50S + 30S)
• 23S rRNA: Peptidyl transferase (ribozyme)

mRNA Structure

• UTRs (Untranslated Regions) at 5' and 3' ends

• Important for regulation and stability of translation

⚙️ 5.8 REGULATION OF GENE EXPRESSION

• Gene expression can be regulated at:

• Transcriptional level
• RNA processing
• mRNA transport
• Translational level

Lac Operon (Prokaryotes)

• Genes:
• z: β-galactosidase → lactose → glucose + galactose
• y: Permease → lactose transport
• a: Transacetylase

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 • i gene: Codes for repressor protein
• No lactose: Repressor binds operator → No transcription
• Lactose present: Acts as inducer → Inactivates repressor → Transcription occurs
• Negative regulation

🧬 5.9 HUMAN GENOME PROJECT (HGP)

Objectives

• Identify 20,000–25,000 human genes

• Sequence 3 billion base pairs
• Store data in databases
• Improve bioinformatics tools
• Address ethical, legal, social issues (ELSI)

Approaches

• EST (Expressed Sequence Tags) → Identify gene-expressed regions

• Sequence Annotation → Sequence everything, assign functions later
• Vectors: BAC (bacteria), YAC (yeast)
• Sequencing: Sanger method using automated sequencers

Key Findings

• 3164.7 million base pairs

• ~30,000 genes (lower than expected)
• <2% codes for proteins
• 99.9% bases identical among humans
• 1.4 million SNPs (Single Nucleotide Polymorphisms)
• Chromosome 1 has highest genes; Y has least

🧬 5.10 DNA FINGERPRINTING

• Based on DNA polymorphism

• Focuses on repetitive DNA sequences (non-coding)
• VNTRs: Variable Number of Tandem Repeats → highly polymorphic

Steps:

1. DNA isolation
2. Digestion with restriction enzymes
3. Gel electrophoresis
4. Southern blotting onto membrane
5. Hybridisation with labelled VNTR probe
6. Autoradiography → band pattern

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Uses:

• Forensics (crime scene matching)

• Paternity testing
• Evolutionary studies
• Genetic diversity analysis

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