G.D.
GOENKA INTERNATIONAL SCHOOL, RAIPUR
Subject: BIOLOGY
Class: XII
PRINCIPLES OF INHERITANCE
Key Concepts
Genetics: The branch of biology that deals with the inheritance of characters from parents to offspring.
Inheritance: The process by which characters are passed on from parents to offspring.
Variation: The degree by which progeny differ from their parents.
Mendel's Laws of Inheritance: Gregor Mendel, the "Father of Genetics," proposed three main laws based on his
experiments with pea plants.
Law of Dominance: In a cross between two pure-breeding organisms for a single trait, only one form of the trait
(the dominant allele) will appear in the first filial (F_1) generation. The other form (the recessive allele) is masked.
Law of Segregation: During the formation of gametes, the two alleles for a trait segregate or separate from each
other, so each gamete carries only one allele.
Law of Independent Assortment: Alleles for different traits are inherited independently of each other. This
means that the inheritance of one trait doesn't affect the inheritance of another.
Important Diagrams & Ratios
Monohybrid Cross: A cross involving a single pair of contrasting traits (e.g., tall vs. dwarf pea plants).
Phenotypic Ratio: 3:1 (e.g., 3 tall : 1 dwarf in the F_2
generation)
Genotypic Ratio: 1:2:1 (e.g., 1 TT : 2 Tt : 1 tt)
Dihybrid Cross: A cross involving two pairs of contrasting traits (e.g., round, yellow seeds vs. wrinkled, green
seeds).
Phenotypic Ratio: 9:3:3:1
Incomplete Dominance: The F_1 generation shows a phenotype that is intermediate between the two parental
phenotypes (e.g., red and white flowers producing pink flowers).
Co-dominance: Both parental alleles are expressed in the F_1 hybrid (e.g., human blood groups A and B
producing AB blood group).
Chromosomal Theory of Inheritance
Proposed by Sutton and Boveri, it states that genes are located on chromosomes and it is the chromosomes that
undergo segregation and independent assortment during meiosis.
Sex Determination
XX-XY type (e.g., humans): Females have two X chromosomes (XX) and males have one X and one Y
chromosome (XY).
XX-XO type (e.g., insects): Females have two X chromosomes (XX) and males have only one X chromosome
(XO).
ZW-ZZ type (e.g., birds): Females are heterogametic (ZW) and males are homogametic (ZZ).
Types of Genetic Disorders
1. Mendelian Disorders (single-gene disorders)
Caused due to mutation in a single gene.
Follow Mendel’s principles of inheritance (dominant/recessive, autosomal/sex-linked).
Examples
Sickle Cell Anaemia (Autosomal Recessive)
Mutation in β-globin gene of hemoglobin.
Defective Hb (HbS) forms, RBCs become sickle-shaped under low O₂.
Symptoms: anaemia, body pain, organ damage.
Genotype: HbA HbA → Normal | HbA HbS → Carrier | HbS HbS → Diseased.
Phenylketonuria (Autosomal Recessive)
Defect in enzyme phenylalanine hydroxylase.
Phenylalanine not converted to tyrosine → accumulates → brain damage, mental retardation.
Cystic Fibrosis (Autosomal Recessive)
Mutation in CFTR gene → thick mucus in lungs, digestive problems.
Huntington’s Disease (Autosomal Dominant)
Late-onset neurodegenerative disorder.
Uncontrolled movements, loss of memory, early death.
Haemophilia (X-linked Recessive)
Deficiency of clotting factor VIII.
More common in males; females can be carriers.
Small cuts may cause severe bleeding.
Colour Blindness (X-linked Recessive)
Inability to distinguish red from green.
More common in males (XY)
2. Chromosomal Disorders (due to abnormal chromosome number or structure)
Numerical abnormalities (Aneuploidy):
Caused by non-disjunction during meiosis.
Down’s Syndrome (Trisomy 21)
Extra copy of chromosome 21 (47 chromosomes).
Symptoms: mental retardation, short stature, broad face, furrowed tongue, heart defects.
Klinefelter’s Syndrome (XXY condition in males)
Males with one extra X chromosome (47 chromosomes).
Symptoms: tall stature, feminine characters (gynecomastia), sterile.
Turner’s Syndrome (XO condition in females)
Females with only one X chromosome (45 chromosomes).
Symptoms: short height, webbed neck, underdeveloped ovaries, sterile.
Structural abnormalities:
Deletion, duplication, inversion, or translocation of chromosome parts.
Example: Cri-du-chat syndrome (deletion in chromosome 5).
