1.

Mendelian Inheritance

**Monohybrid Cross**
* Definition: A cross involving a single pair of contrasting characters (e.g., Tall vs. Dwarf
stems).
* Observations: The F1 generation always shows the dominant trait. The F2 generation shows
both traits in a specific ratio.
* Ratios: Phenotypic: 3:1
Genotypic: 1:2:1 (1 Homozygous Dominant, 2 Heterozygous, 1 Homozygous Recessive).

**Dihybrid Cross**
* Definition: A cross involving two pairs of contrasting characters (e.g., Round-Yellow seeds vs.
Wrinkled-Green seeds).
* Law of Independent Assortment:Alleles for different traits distributed into gametes
independently of one another.
* Ratios:
Phenotypic: 9:3:3:1
Genotypic: 1:2:1:2:4:2:1:2:1

2. Deviations from Mendelian Ratios

**Incomplete Dominance**
* The dominant allele does not completely mask the recessive one; the heterozygote is an
intermediate phenotype.
* Example: Flower color in *Antirrhinum majus* (Snapdragon) or *Mirabilis jalapa*.
Red (RR) × White (rr) = Pink (Rr).
* Ratio:Phenotypic and Genotypic ratios are identical (1:2:1).

**Codominance**
* Both alleles express themselves fully and simultaneously in the heterozygote.
* Example: ABO blood grouping (specifically the I^A I^B genotype results in AB blood type).

**Multiple Allelism**
* When more than two alleles govern the same character in a population.
* Example: ABO blood group system in humans (alleles I^A, I^B, and I°).
* Total genotypes possible: n(n+1)/2 where n is the number of alleles.

**Pleiotropy**
* A single gene influences multiple, seemingly unrelated phenotypic traits.
* Example: Phenylketonuria (PKU) in humans or starch grain size/shape in pea seeds.

**Polygenic Inheritance**
* Traits controlled by three or more genes, where the effect is additive.
* Example: Human skin color, height, or kernel color in wheat.
* Characterized by a continuous variation (bell-shaped curve).

**Lethal Genes**
* Genes that cause death when homozygous, altering the monohybrid ratio to 2:1 (e.g., yellow
fur in mice).

3. Linkage, Crossing Over, and Recombination

* Linkage: The physical association of genes on the same chromosome. Linked genes tend to
be inherited together, which violates the Law of Independent Assortment.
* Crossing Over: The exchange of genetic material between non-sister chromatids of
homologous chromosomes during Pachytene of Meiosis I.
* Recombination: The production of offspring with combinations of traits that differ from those
found in either parent.
* Recombination Frequency: Used to map the distance between genes (1% recombination =
1 centiMorgan or map unit).

4. Sex Determination & Inheritance

**Mechanisms**
* XX-XY: Humans and *Drosophila* (Males are heterogametic).
* XX-XO: Grasshoppers (Males have only one X).
* ZZ-ZW: Birds (Females are heterogametic).

* Haplo diploid Inheritance:Seen in Honeybees.

* Males (Drones) develop from unfertilized eggs (Haploid, n=16).
* Females (Queen/Workers) develop from fertilized eggs (Diploid, 2n=32).
* Note: Males have no father and cannot have sons, but they have grandfathers and
grandsons.

5. Mutations and Genetic Disorders

**Mutation**
* Point Mutation: Change in a single base pair (e.g., Sickle cell anemia).
* Frame-shift Mutation: Insertion or deletion of bases that changes the reading frame.

**Mendelian Disorders**
Determined by alteration or mutation in a single gene. They follow Mendelian inheritance
patterns.
* Haemophilia:X-linked recessive (Bleeder's disease).
*Sickle-cell Anemia: Autosomal recessive; substitution of Glutamic acid by Valine at the 6th
position of the \beta-globin chain.
* Phenylketonuria (PKU): Autosomal recessive; lack of enzyme to convert phenylalanine to
tyrosine.
**Chromosomal Disorders**
Caused by absence, excess, or abnormal arrangement of chromosomes (Aneuploidy).
* Down’s Syndrome: Trisomy of chromosome 21.
* Klinefelter’s Syndrome: Trisomy (44 + XXY); sterile males with feminine features.
* Turner’s Syndrome:Monosomy (44 + XO); sterile females with rudimentary ovaries.

6. Pedigree Analysis
A record of inheritance of a specific trait over several generations.
* Autosomal Dominant: Does not skip generations; affected parents can have unaffected
children.
* Autosomal Recessive:Can skip generations; unaffected parents can have affected children.
* X-linked Recessive: More common in males; affected mothers always have affected sons.

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7. The Chromosomal Theory of Inheritance
It is a cornerstone of modern genetics . It was proposed independently by Walter Sutton and
Theodor Boveri in 1902. They realized that the behavior of chromosomes during meiosis could
explain Mendel's laws of inheritance.

8. The Structure and Packaging of Genetic Material

The search for genetic material led from Griffith's transformation experiments to the
Hershey-Chase "blender" experiment, proving that **DNA** (Deoxyribonucleic Acid) is the
hereditary material.
* **Structure**: A double-helix model (Watson and Crick) featuring an antiparallel backbone of
sugar-phosphate and nitrogenous bases (A=T and G=C).
* **Packaging**: In eukaryotes, DNA is wrapped around **histone octamers** to form
nucleosomes ("beads on a string"), which further coil into chromatin and eventually
chromosomes.

9. The Central Dogma: Information Flow

This describes how genetic information is translated into biological function.
* **Replication**: Semi-conservative copying of DNA (Meselson and Stahl experiment).
* **Transcription**: Copying a gene's DNA sequence into **messenger RNA (mRNA)**.
* **Translation**: Using the genetic code on mRNA to assemble amino acids into a polypeptide
chain (protein) at the ribosome.
10. Gene Expression and Regulation
A "gene" isn't just a physical segment of DNA; it's a functional unit. Regulation ensures that
genes are turned "on" or "off" at the right time.
* **The Lac Operon**: A classic model in *E. coli* showing how a cluster of genes is regulated
by the presence or absence of a substrate (lactose).
* **Eukaryotic Regulation**: Much more complex, involving transcriptional control, RNA
processing (splicing), and translational control.

11. The Machinery of Life: Information Flow

The cell uses specific enzymes to copy and interpret genetic instructions.
* Replication (DNA to DNA):** Occurs during the S-phase of the cell cycle.
 * **Helicase** unwinds the double helix, creating a replication fork.
* **DNA Polymerase** adds nucleotides in the 5' to 3' direction. Because it only works in one
direction, one strand (leading) is made continuously, while the other (lagging) is made in short
**Okazaki fragments**.
* **DNA Ligase** acts as "molecular glue" to join these fragments.

* Transcription (DNA to RNA):** The process of making an RNA copy of a gene.

* **RNA Polymerase** binds to a **promoter** region and unwinds the DNA. It uses one
strand as a template to synthesize **mRNA**.
* In eukaryotes, the initial transcript (**hnRNA**) undergoes **Splicing** (removing non-coding
introns), Capping, and Tailing before leaving the nucleus.
* Translation (RNA to Protein):** Decoding mRNA into a chain of amino acids.
* Occurs at the **ribosome**
* **tRNA** molecules act as adapters; they have an **anticodon** that matches the mRNA
codon and carry the corresponding amino acid.
 12. The Control Systems: Regulation & Encoding

**The Genetic Code:

* **Triplet:** Three bases (a codon) specify one amino acid.
* **Degenerate:** Some amino acids are coded by more than one codon (minimizes the effect
of mutations).
* **Universal:** The same code is used by almost all organisms, from bacteria to humans.
 **The Lac Operon**
A model for gene regulation in *E. coli*.
* It consists of structural genes (z, y, a), a promoter, and an **operator**.
* In the absence of lactose, a **repressor** binds to the operator, blocking RNA polymerase.
* When lactose is present, it acts as an **inducer**, binding to the repressor so it lets go,
allowing the genes to be switched "ON."
 **Human Genome Project (HGP)**
* A massive effort to sequence all 3 billion base pairs of human DNA.
* Key findings: Humans have roughly 20,000–25,000 genes, and over 98% of our genome
does not code for proteins.

Note on the nature of genes, their expression, and their regulation:

1. Nature of the Gene
* **Definition**: Originally termed "anlagen" by Mendel and "mendelian factors" by Correns
(1900), genes were named by Johannsen in 1909 as the elementary units of inheritance that
specify a particular trait.
* **Physical Basis**: A gene is considered the smallest segment of a chromosome that
determines a trait and can undergo crossing over.
* **Cistron**: In biochemical genetics, the term "gene" is often replaced by **cistron**, defined
as a segment of DNA consisting of a stretch of deoxyribonucleotides that codes for a
biochemical (rRNA, tRNA, or a polypeptide through mRNA).
* **Characteristics**:
* Genes store and express coded hereditary information.
* They undergo replication to transmit copies to daughter cells and offspring.
 * They can occasionally undergo mutation.
* They are located on chromosomes and are distributed through elaborate replication
processes.

2. Gene Expression
Gene expression involves the transfer of genetic information from DNA to functional products
like proteins or RNA.
* **One Gene-One Polypeptide**: Modern understanding suggests a structural gene specifies
the synthesis of a single polypeptide.
* **Transcription**: This is the process of synthesizing RNA over a DNA template.
* **Template Strand**: Only one of the two DNA strands, the "antisense" or "minus (-)" strand,
acts as a template for RNA synthesis.
* **Coding Strand**: The other strand is called the "sense" or "plus (+)" strand because its
sequence corresponds to the genetic code written in the 5' to 3' direction.
* **Post-Transcriptional Processing**: In eukaryotes, the primary transcript (hnRNA) is modified
through:
* **Splicing**: Removing non-essential "introns" and joining "exons" to produce mature RNA.
* **Capping and Tailing**: Adding a 7-methyl guanosine cap at the 5' end and poly-A
nucleotides at the 3' end for ribosomal recognition and stability.

3. Gene Regulation
Regulation ensures that genes do not express simultaneously, allowing for proper development
and differentiation.
* **Types of Genes**:
* **Structural Genes**: Code for polypeptides or RNAs that perform cellular functions.
* **Regulatory Genes**: Control the functioning of structural genes.
* **Promoter and Terminator**: Each transcription unit has a **promoter region** where
initiation begins and a **terminator region** where it ends.
* **Transcription Factors**: In eukaryotes, these factors recognize specific sequences (like the
TATA box or CAAT box) to help RNA polymerase bind and initiate transcription.
* **Differential Splicing**: A single gene can code for two or more proteins by splicing the
transcript in different ways, adding a layer of regulation to the final product.