📘 Chapter 5 – Molecular Basis of Inheritance Class 12 Biology | Full Board Notes | In Pointers | NCERT-

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🔬 Introduction - Genetics evolved into molecular genetics with the discovery of nucleic acids – DNA and
RNA. - DNA is the hereditary material in most organisms. - RNA acts as genetic material in some viruses and
performs various functions in gene expression. - Important molecular processes: DNA replication,
transcription (RNA synthesis), translation (protein synthesis), and gene regulation. - The chapter also
discusses two major discoveries: the Human Genome Project and DNA Fingerprinting.

🧬 5.1 The DNA - DNA (Deoxyribonucleic Acid) is a long polymer of deoxyribonucleotides. - It is the genetic
material responsible for heredity in most organisms. - Length of DNA is measured in base pairs (bp). -
Examples: - ϕX174 bacteriophage: 5386 nucleotides - Lambda phage: 48502 base pairs - E. coli: ~4.6 million
bp - Human haploid genome: ~3.3 billion bp

🧪 5.1.1 Structure of Polynucleotide Chain - Each nucleotide consists of: - Nitrogenous base: Purines –
Adenine (A), Guanine (G); Pyrimidines – Cytosine (C), Thymine (T), Uracil (U in RNA only) - Pentose sugar:
Deoxyribose (DNA), Ribose (RNA) - Phosphate group - Nucleoside = Base + Sugar; Nucleotide = Nucleoside +
Phosphate - Nucleotides are linked by 3'→5' phosphodiester bonds → forms sugar-phosphate backbone. -
Each polynucleotide strand has directionality: 5' end (phosphate) and 3' end (OH).

🧬 Double Helix Model of DNA - Proposed by Watson and Crick in 1953 using Rosalind Franklin’s X-ray
diffraction images. - Features: - Two strands coiled in a right-handed double helix; antiparallel (5’→3’ and
3’→5’) - Base pairing via hydrogen bonds: A=T (2 bonds), G≡C (3 bonds) - 10 base pairs per turn; pitch = 3.4
nm → 0.34 nm between adjacent base pairs - Stability due to hydrogen bonds and base stacking
interactions

📜 Central Dogma - Proposed by Francis Crick: Genetic information flows from DNA → RNA → Protein -
Exception in retroviruses: RNA → DNA → RNA → Protein (via reverse transcriptase)

🧫 5.1.2 Packaging of DNA Helix - Prokaryotes: - DNA is not enclosed in a nucleus; it forms a compact
nucleoid. - Looped and held with basic (positively charged) proteins. - Eukaryotes: - DNA is wrapped around
histone proteins → forms nucleosomes (each ~200 bp of DNA) - Nucleosomes coil to form chromatin →
further condenses into chromosomes. - Chromatin types: - Euchromatin: loosely packed, transcriptionally
active - Heterochromatin: tightly packed, inactive - Higher-level packaging involves non-histone
chromosomal proteins

🔍 5.2 Search for Genetic Material 🧪 Griffith’s Experiment (1928): - Used Streptococcus pneumoniae (S-
strain = virulent; R-strain = non-virulent) - Heat-killed S-strain + live R-strain → mouse died → transformation
occurred - Conclusion: A “transforming principle” from dead S cells converted R cells to virulent S type

🧪 Avery, MacLeod & McCarty (1944): - Treated heat-killed S-cell extract with enzymes (RNase, protease,
DNase) - Only DNase stopped transformation → proved DNA is the transforming principle

🧪 Hershey-Chase Experiment (1952): - Used T2 bacteriophage labeled with radioactive sulfur (³⁵S for
protein) and phosphorus (³²P for DNA) - Only ³²P entered E. coli cells → DNA is the genetic material, not
protein

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🧬 5.2.2 DNA vs RNA as Genetic Material - Criteria: replication, storage, expression, mutation, stability -
DNA: - Double-stranded, stable due to absence of 2'-OH group - Contains thymine; better suited for long-
term information storage - RNA: - Single-stranded, contains uracil - Can be catalytic (ribozymes) but less
stable - Serves as messenger, adapter (tRNA), and catalyst

🌍 5.3 RNA World - Hypothesis: Early life forms used RNA for both genetic storage and enzymatic activity -
Ribozymes: RNA molecules with catalytic activity - DNA and proteins evolved later for better stability and
efficiency

🔁 5.4 DNA Replication - Semi-conservative model: each daughter DNA has one parental and one newly
synthesized strand 🧪 Meselson-Stahl Experiment: - Used heavy isotope ¹⁵N-labeled DNA in E. coli →
transferred to ¹⁴N medium - Intermediate density band after one round → confirmed semi-conservative
replication

🧬 Replication Mechanism: - Enzyme: DNA-dependent DNA polymerase - Replication fork forms at origin
site - Leading strand: synthesized continuously - Lagging strand: synthesized in Okazaki fragments → joined
by DNA ligase - Always proceeds in 5’→3’ direction - Occurs during S phase of cell cycle

🧬 5.5 Transcription - Synthesis of RNA from DNA template using RNA polymerase - Only one strand is
transcribed (template strand = 3’→5’) - Transcription unit = promoter + structural gene + terminator

🧫 In Prokaryotes: - One RNA polymerase synthesizes all RNA types - Sigma (σ) factor: initiation; Core
enzyme: elongation - Transcription and translation occur simultaneously

🧬 In Eukaryotes: - Three RNA polymerases: - RNA pol I: rRNA - RNA pol II: mRNA - RNA pol III: tRNA, 5S
rRNA - Primary transcript (hnRNA) undergoes: - Capping (5’ end methyl guanosine) - Tailing (3’ poly-A tail) -
Splicing (removal of introns, joining exons)

🔡 5.6 Genetic Code - Codon = triplet of bases coding for amino acid - Total codons: 64 (61 amino acid
codons + 3 stop codons: UAA, UAG, UGA) - Start codon: AUG (codes methionine)

🧬 Properties of Genetic Code: - Universal: same in almost all organisms - Degenerate: multiple codons
code same amino acid - Non-overlapping, comma-less, unambiguous

🧪 Mutations: - Point mutation: single base change (e.g., sickle cell anemia: GAG → GTG) - Frameshift
mutation: insertion/deletion alters reading frame

🧷 5.6.2 tRNA – The Adapter - Structure: Cloverleaf - Anticodon loop: recognizes mRNA codon - CCA end
(acceptor): binds specific amino acid - Each tRNA specific to one amino acid

🍳 5.7 Translation - Conversion of mRNA into polypeptide (protein) in cytoplasm - Ribosome structure: large
and small subunits; 3 sites – A (aminoacyl), P (peptidyl), E (exit)

🧬 Steps: 1. Initiation: Ribosome assembles on mRNA at AUG codon; initiator tRNA brings methionine 2.
Elongation: New tRNA enters A site, peptide bond formed (via peptidyl transferase) 3. Translocation:

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Ribosome moves forward; empty tRNA exits from E site 4. Termination: Stop codon reached; release factor
detaches polypeptide chain

• Polysome = multiple ribosomes translating one mRNA simultaneously

⚖️ 5.8 Regulation of Gene Expression 🧪 Prokaryotic Model – Lac Operon (Jacob & Monod): - i gene →
repressor protein - No lactose: repressor binds operator → blocks RNA polymerase - Lactose present: acts
as inducer → inactivates repressor → allows transcription - Structural genes: - z: β-galactosidase - y:
permease - a: transacetylase

🧬 Eukaryotic Gene Regulation: - More complex; occurs at multiple levels: 1. Transcriptional 2. Post-
transcriptional (splicing, editing) 3. Translational (initiation control) 4. Post-translational (protein folding,
activation)

🧬 5.9 Human Genome Project (HGP) - Aim: Sequence entire human DNA (~3.3 billion bp), identify all genes
(~30,000) - Launched: 1990 | Completed: 2003 - Approaches: - ESTs: sequencing expressed genes - Shotgun
sequencing: entire genome broken and assembled - Tools: BAC, YAC vectors; Sanger sequencing;
bioinformatics

🔬 Major Findings: - <2% of genome codes proteins - Most genes: Chromosome 1; Fewest: Y chromosome -
1.4 million SNPs (Single Nucleotide Polymorphisms) discovered

🧬 5.10 DNA Fingerprinting - Developed by Alec Jeffreys (1985, UK) - Based on variability in repetitive DNA →
especially VNTRs (Variable Number Tandem Repeats)

🧪 Steps: 1. DNA extraction from sample (blood, saliva, etc.) 2. Cutting with restriction enzymes 3.
Separation by gel electrophoresis 4. Blotting onto membrane 5. Hybridization using VNTR probes 6.
Autoradiography to visualize pattern

📌 Applications: - Forensics (crime investigations) - Paternity/maternity testing - Missing person