Class 12 Biology Notes

Inheritance and Variation

Maharashtra State Board (Simple Language with Details)
1. Chromosomes and Mechanism of Inheritance
What are Chromosomes?
Chromosomes are thread-like structures present in the nucleus of a cell.
They are made up of DNA and proteins.
Chromosomes carry genes, which are units of heredity.
Genes transfer characters from parents to offspring.
Human Chromosomes
Human body cells contain 46 chromosomes (23 pairs).
Out of these:
22 pairs are Autosomes
1 pair is Sex Chromosome
Role of Chromosomes in Inheritance
During reproduction, chromosomes are passed from parents to offspring through gametes.
Each parent contributes one set of chromosomes.
Thus, offspring inherit traits from both parents.
Example
A child inherits:
Eye colour genes from both parents.
Blood group genes from both parents.
Therefore, chromosomes act as carriers of hereditary information.
2. Reasons for Mendel's Success
Gregor Johann Mendel
is known as the Father of Genetics.
Reasons for His Success
1. Selection of Pea Plant
Pea plant (Pisum sativum) has many contrasting characters.
It has a short life cycle.
Produces many seeds.
2. Pure Breeding Lines
Mendel used true-breeding plants.
These plants produced offspring similar to parents.
3. Studied One Character at a Time
He observed a single pair of contrasting traits initially.
4. Large Sample Size
Thousands of plants were used.
Results were more accurate.
5. Accurate Record Keeping
Detailed observations were maintained.
6. Use of Mathematics
Mendel analysed results statistically.
3. Law of Dominance
Statement
"When two contrasting alleles are present together in a hybrid, only one allele expresses itself while the other remains hidden."
Terms
Dominant Trait
Trait that appears in F■ generation.
Recessive Trait
Trait that remains hidden in F■ generation.
Example
Cross
TT × tt
Gametes
T and t
F■ Generation
All plants = Tt (Tall)
Although dwarf allele is present, tallness appears because T is dominant.
Conclusion
Dominant allele masks the effect of recessive allele.
4. Law of Segregation
Statement
"Two alleles of a gene separate during gamete formation and each gamete receives only one allele."
Also called:
Law of Purity of Gametes
Monohybrid Cross
Parents:
TT × tt
↓
F■:
All Tt
↓
Selfing:
Tt × Tt
Punnett Square
Genotypic Ratio
1 TT : 2 Tt : 1 tt
Phenotypic Ratio
3 Tall : 1 Dwarf
Conclusion
Alleles separate during gamete formation and recombine during fertilization.
5. Law of Independent Assortment
Statement
"When two pairs of contrasting characters are considered, the inheritance of one pair is independent of the other pair."
Dihybrid Cross
Traits:
Seed Shape:
Round (R)
Wrinkled (r)
Seed Colour:
Yellow (Y)
Green (y)
Parents
RRYY × rryy
F■
All RrYy
(Round Yellow)
F■ Phenotypic Ratio
9:3:3:1
Conclusion
Genes for different characters assort independently during gamete formation.
6. Back Cross
Definition
Cross between F■ hybrid and any one of its parents is called back cross.
Example
F■ = Tt
Back Cross:
Tt × TT
or
Tt × tt
Importance
Used to transfer desirable characters.
Useful in plant breeding.
7. Test Cross
Definition
Cross between an individual showing dominant phenotype and homozygous recessive parent.
Example
Tall plant (T?)
×
Dwarf plant (tt)
Case 1
If genotype is TT
TT × tt
All offspring Tall
Case 2
If genotype is Tt
Tt × tt
Offspring:
50% Tall
50% Dwarf
Ratio = 1 : 1
Importance
Helps determine unknown genotype.
Widely used in genetics and breeding.
Note
Every test cross is a back cross, but every back cross is not a test cross.
8. Deviations from Mendel's Findings
Some inheritance patterns do not follow Mendel's laws completely.
A. Incomplete Dominance
Definition
Neither allele is completely dominant over the other.
Example
Cross
Red Flower (RR)
×
White Flower (rr)
F■
Pink Flower (Rr)
F■ Ratio
1 Red : 2 Pink : 1 White
Significance
Intermediate phenotype appears.
B. Co-dominance
Definition
Both alleles express themselves equally in heterozygous condition.
Example
IAIB = Blood Group AB
Both A and B antigens are expressed.
C. Multiple Alleles
Definition
More than two alternative forms of a gene are present in a population.
Example
Human ABO Blood Groups
Alleles:
IA
IB
i
Possible Blood Groups:
A
B
AB
O
D. Pleiotropy
Definition
One gene affects more than one character.
Example
Single gene affects:
Mental development
Metabolism
Nervous system
E. Polygenic Inheritance
Definition
A character is controlled by many genes.
Examples
Human skin colour
Height
Body weight
Characteristics
Continuous variation observed.
No clear dominant or recessive pattern.
Important Definitions for Examination
Gene
Unit of heredity controlling a character.
Allele
Alternative form of a gene.
Homozygous
Both alleles are same (TT or tt).
Heterozygous
Both alleles are different (Tt).
Genotype
Genetic makeup of an organism.
Phenotype
External appearance of an organism.
Monohybrid Cross
Cross involving one pair of contrasting traits.
Dihybrid Cross
Cross involving two pairs of contrasting traits.
Quick Revision Table
Exam Tip
Remember the ratios:
Monohybrid phenotypic ratio → 3 : 1
Monohybrid genotypic ratio → 1 : 2 : 1
Dihybrid phenotypic ratio → 9 : 3 : 3 : 1
Test cross ratio (heterozygous) → 1 : 1
Class 12 Biology Notes
Inheritance and Variation
Maharashtra State Board
1. Intragenic Interaction
Definition
Interaction between alleles of the same gene present at the same locus on homologous chromosomes is called Intragenic Interaction.
Types
Complete Dominance
Incomplete Dominance
Co-dominance
Multiple Alleles
Example
Tallness (T) dominant over dwarfness (t) in pea plants.
ABO blood group inheritance.
Importance
It explains how different alleles of a gene influence the expression of a trait.
2. Intergenic Interaction
Definition
Interaction between different genes located on different loci that affect the same character is called Intergenic Interaction.
Examples
Polygenic inheritance of skin colour.
Epistasis.
Importance
Produces variations that cannot be explained by a single gene.
3. Incomplete Dominance
Definition
Neither allele is completely dominant over the other.
Example
Cross
Red Flower (RR) × White Flower (rr)
F■ Generation
All Pink Flowers (Rr)
F■ Ratio
1 Red : 2 Pink : 1 White
Significance
Shows blending of parental traits in heterozygous condition.
4. Multiple Alleles
Definition
More than two alternative forms of a gene present in a population are called multiple alleles.
Example
Alleles
IA
IB
i
Blood Groups
5. Pleiotropy
Definition
A single gene controls more than one phenotypic character.
Example
Effects
Mental retardation
Reduced pigmentation
Nervous disorders
Cause
Defect in enzyme responsible for phenylalanine metabolism.
6. Chromosomal Theory of Inheritance
Proposed By
and
Main Points
Genes are located on chromosomes.
Chromosomes occur in pairs.
Homologous chromosomes separate during meiosis.
Chromosomes carry hereditary information.
Fertilization restores chromosome number.
Importance
Provides cytological basis of Mendel's laws.
7. Chromosome
Definition
Thread-like structures present in the nucleus made of DNA and proteins.
Functions
Carry genes.
Transfer hereditary characters.
Control cellular activities.
Types
Autosomes
Control body characters.
Sex Chromosomes
Determine sex of an individual.
8. Sex Chromosomes
Definition
Chromosomes responsible for sex determination.
Humans
Functions
Determine sex.
Carry sex-linked genes.
9. Linkage
Definition
The tendency of genes located on the same chromosome to be inherited together is called linkage.
Discovery
Reason
Linked genes do not assort independently.
Importance
Preserves parental gene combinations.
10. Sex Linkage
Definition
Inheritance of genes present on sex chromosomes is called sex linkage.
Types
X-linked inheritance
Y-linked inheritance
11. Crossing Over
Definition
Exchange of genetic material between non-sister chromatids of homologous chromosomes during meiosis-I.
Stage
Pachytene stage of Prophase-I.
Significance
Produces genetic variation.
Creates new gene combinations.
Important in evolution.
12. Morgan's Experiment
Scientist
Organism Used
Observations
Genes on the same chromosome tend to remain together.
Some linked genes separate due to crossing over.
Conclusion
Genes are arranged linearly on chromosomes.
Linkage and crossing over occur.
Chromosomes carry hereditary factors.
13. Autosomal Inheritance – Widow's Peak
Widow's Peak
A V-shaped hairline extending onto the forehead.
Genetics
Widow's Peak (W) = Dominant
Straight Hairline (w) = Recessive
Cross Example
Ww × ww
Offspring
50% Widow's Peak
50% Straight Hairline
Significance
An example of autosomal dominant inheritance.
14. Phenylketonuria (PKU)
Definition
An inherited autosomal recessive disorder caused by inability to metabolize phenylalanine.
Cause
Deficiency of enzyme: Phenylalanine hydroxylase
Symptoms
Intellectual disability
Delayed growth
Reduced skin pigmentation
Inheritance
Autosomal recessive.
Prevention
Early diagnosis and low-phenylalanine diet.
15. Sex-Linked Inheritance
Definition
Inheritance of characters controlled by genes present on sex chromosomes.
Characteristics
Males are affected more frequently by X-linked disorders.
Females often act as carriers.
Examples
Colour blindness
Haemophilia
16. X-Linked Genes
Definition
Genes located on the X chromosome.
Features
Males possess only one X chromosome.
Recessive genes express easily in males.
Examples
Colour blindness
Haemophilia
Duchenne muscular dystrophy
17. Y-Linked Genes
Definition
Genes present on Y chromosome.
Characteristics
Passed from father to son only.
Never transmitted to daughters.
Examples
Hairy pinna (hairy ear rim)
Some male-specific traits
Pattern
Father → Son → Grandson
18. Colour Blindness
Definition
An X-linked recessive disorder in which a person cannot distinguish certain colours, usually red and green.
Cause
Defective gene on X chromosome.
Genotypes
Features
More common in males.
Females usually carriers.
19. Haemophilia
Definition
An X-linked recessive genetic disorder in which blood fails to clot normally.
Cause
Absence of clotting factors.
Symptoms
Excessive bleeding
Delayed clotting
Internal bleeding
Inheritance
Affected father does not pass disease directly to sons.
Carrier mother may pass disease to sons.
Genotypes
Quick Revision Table
Important Scientists for Exams
– Father of Genetics
– Chromosomal Theory
– Chromosomal Theory
– Linkage and Crossing Over
– Experimental organism used by Morgan.
Class 12 Biology Notes
Inheritance and Variation
Maharashtra State Board
1. Sex Determination in Human Beings
Introduction
Sex determination is the process by which the sex of an individual is established.
Chromosomes in Humans
Humans have 46 chromosomes (23 pairs).
Out of these:
22 pairs are autosomes.
1 pair is sex chromosomes.
Sex Chromosomes
Formation of Gametes
Female
Produces only one type of egg.
Each egg contains X chromosome.
Male
Produces two types of sperms:
X-bearing sperm
Y-bearing sperm
Fertilization
Result
50% chance of female child.
50% chance of male child.
Important Point
The father determines the sex of the child because sperm may carry either X or Y chromosome.
Human Sex Determination Diagram
2. Sex Determination in Birds
Type
ZZ-ZW System
Chromosomes
Features
Male produces only one type of sperm (Z).
Female produces two types of eggs (Z and W).
Fertilization
Important Point
In birds, the female determines the sex of the offspring.
Examples
3. Sex Determination in Honey Bees
Type
Haplodiploid Sex Determination
Principle
Sex depends on the number of chromosome sets.
Fertilized Egg
Diploid (2n)
Develops into Female
Unfertilized Egg
Haploid (n)
Develops into Male
Individuals
Features
Male bees develop without fertilization.
Females develop from fertilized eggs.
Example
Honey Bee Life Cycle
4. Genetic Disorders
Definition
Genetic disorders are diseases caused by abnormalities in genes or chromosomes.
Types
Gene Disorders
Chromosomal Disorders
5. Thalassemia
Definition
A hereditary blood disorder characterized by reduced synthesis of haemoglobin.
Cause
Mutation in genes responsible for haemoglobin production.
Inheritance
Autosomal recessive.
Symptoms
Severe anaemia
Weakness
Fatigue
Delayed growth
Enlarged spleen
Types
Alpha-thalassemia
Beta-thalassemia
Prevention
Genetic counselling
Prenatal diagnosis
Carrier screening
Important Point
Both parents must be carriers for an affected child to inherit the disease.
6. Down Syndrome
Definition
A chromosomal disorder caused by the presence of an extra chromosome 21.
Chromosome Number
47 chromosomes
Cause
Trisomy 21
Three copies of chromosome 21 are present.
Karyotype
47, XX,+21
or
47, XY,+21
Symptoms
Intellectual disability
Short stature
Flat facial profile
Small ears
Broad hands
Delayed development
Risk Factor
Advanced maternal age increases the risk.
Discovery
Down Syndrome Chromosome Pattern
7. Turner's Syndrome
Definition
A chromosomal disorder in females caused by absence of one X chromosome.
Chromosome Number
45 chromosomes
Karyotype
45, X
Cause
Monosomy X
Characteristics
Female appearance
Short height
Broad chest
Underdeveloped ovaries
Infertility
Delayed puberty
Important Point
Only one X chromosome is present.
8. Klinefelter Syndrome
Definition
A chromosomal disorder in males caused by the presence of an extra X chromosome.
Chromosome Number
47 chromosomes
Karyotype
47, XXY
Cause
Nondisjunction during meiosis.
Characteristics
Male appearance
Tall stature
Small testes
Reduced fertility
Poor development of secondary sexual characters
Sometimes enlarged breasts (gynecomastia)
Important Point
Affected individuals are genetically male but possess an extra X chromosome.
Comparison of Chromosomal Disorders
Quick Revision Table
Important Exam Points
Human sex is determined by the father.
Bird sex is determined by the female.
Honey bee males develop from unfertilized eggs.
Down syndrome results from an extra chromosome 21.
Turner's syndrome occurs due to absence of one X chromosome.
Klinefelter syndrome occurs due to an extra X chromosome in males.
Thalassemia is an inherited disorder affecting haemoglobin production.