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Revision: Genetics and Evolution >> Principles of Inheritance and Variation Biology Science (English Medium) Class 12 CBSE

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Definitions [18]

Definition: Heredity

Heredity (heirship or inheritance) is the transmission of genetically based characters from parents to their offsprings.

Definition: Monohybrid Experiments

Mendel's first experiments were with the varieties of garden pea that differed in only one visible character. These are known as monohybrid experiments.

Definition: Punnett Square

A Punnett square is a graphical diagram developed by Reginald C. Punnett to represent genetic crosses. It is used to predict all possible genotypes and their probabilities in the offspring by arranging the gametes of parents along the top row and left column and showing their combinations in a square format.

Definition: Test Cross

A test cross is defined as a genetic cross between an individual showing a dominant phenotype with unknown genotype and a homozygous recessive individual to determine the genotype of the dominant individual.

Definition: Back Cross

A back cross is defined as a genetic cross between an F₁ hybrid and either of its parental forms (dominant or recessive) to study inheritance of traits.

Define the following term:

Dihybrid cross

A cross between parents differing in two heritable traits is called a dihybrid cross. e.g., a cross of a pure, tall, round seeded plant with a dwarf, wrinkled-seeded plant.

Definition: Incomplete Dominance

Incomplete dominance is the inheritance pattern in which neither allele of a gene is completely dominant over the other, so the heterozygous individual shows an intermediate phenotype between the two parental traits.

Definition: Co-dominance

Co-dominance is the pattern of inheritance in which both alleles of a gene express themselves equally and simultaneously in the heterozygous condition, so both parental traits appear side by side in the phenotype.

Definition: Dihybrid Cross

Mendel investigated not only those crosses in which the parent differed in single pair of characters, but also others in which the parent differed in two pairs. Such a cross which involves two pairs of contrasting characters simultaneously is called dihybrid cross.

or

A genetic cross involving two pairs of contrasting characters simultaneously is called a dihybrid cross.

Define the Homologous chromosomes

Homologous chromosomes are chromosome pairs that are similar in length, gene position and centromere location.

Definition: Recombination

The process by which new (non-parental) combinations of genes are produced due to exchange of genetic material between homologous chromosomes during meiosis, is called recombination.

Definition: Linkage

The physical association of two or more genes located on the same chromosome, due to which they tend to be inherited together and do not assort independently, is called linkage.

Definition: Polygenic inheritance

The inheritance of a trait that is controlled by two or more genes, where each gene contributes additively to the phenotype and the trait shows continuous variation rather than distinct categories, is called polygenic inheritance.

Definition: Pleiotropy

Pleiotropy is the phenomenon in which a single gene influences or controls the expression of more than one phenotypic trait in an organism.

Definition: Sex determination

The biological mechanism by which the sex (male or female) of an individual is established based on genetic or chromosomal factors, is called sex determination.

Definition: Haplodiploid Sex Determination

Haplodiploid sex determination is a mechanism in which sex is determined by the number of chromosome sets, where fertilized diploid (2n) eggs develop into females and unfertilized haploid (n) eggs develop into males, as seen in honeybees.

Definition: Mutation

Mutation is a sudden change in one or more genes, or in the number or in the structure of chromosomes.

or

Mutation is a phenomenon which results in alteration of DNA sequences and consequently results in changes in the genotype and the phenotype of an organism.

Definition: Pedigree analysis

The study of inheritance of a particular trait in humans by collecting information from family history and representing it through a family tree using standard symbols is called pedigree analysis.

Theorems and Laws [3]

Laws: Law of Dominance

The law of dominance states that, out of a pair of allelomorphic characters one is dominant and the other recessive.

  1. In a pair of contrasting traits, only one trait is expressed—this is the dominant trait.
  2. The trait that remains unexpressed is called recessive.
  3. The recessive trait can express itself only when both alleles are recessive (homozygous recessive).
Laws: Law of Segregation

Law of segregation states that, when a pair of allelomorphs are brought together in the hybrid (F1), they remain together in the hybrid without blending but separate complete and pure during gamete formation. 

  1. Each pair of alleles separates during gamete formation, with one going into each gamete.
  2. No blending occurs; alleles remain pure and distinct.
  3. Gametes fuse randomly during fertilisation to form a zygote.
Laws: Law of Independent Assortment

Mendel’s Law of Independent Assortment states that, when two pairs of independent alleles are brought together in the hybrid F1 they show independent dominant effects. In the formation of gametes the law of segregation operates, but the factors assort themselves independently at random and freely. 

  1. When two pairs of traits are considered, alleles of each trait assort independently during gamete formation.
  2. The inheritance of one trait does not affect the inheritance of the other.
  3. This law is clearly demonstrated in the F₁ generation of a dihybrid cross.

Key Points

Key Points: Gregor Johann Mendel – Father of Genetics
  • Gregor Johann Mendel (1822–1884), an Austrian monk, is known as the Father of Genetics for his pioneering work on heredity.
  • He studied science and mathematics at the University of Vienna, which helped him apply a quantitative approach to biological problems.
  • Mendel conducted systematic hybridization experiments on garden pea (Pisum sativum) from 1856 to 1863.
  • From these experiments, he formulated the fundamental Laws of Inheritance, explaining how traits are transmitted across generations.
  • Although his work was ignored during his lifetime, it was rediscovered in 1900, leading to widespread recognition and the foundation of modern genetics.
Key Points: Chromosomal Theory of Inheritance
  • Sutton and Boveri (1903) proposed that genes (Mendelian factors) are located on chromosomes.
  • Chromosomes occur in homologous pairs, similar to pairs of alleles of a gene.
  • During meiosis, homologous chromosomes segregate, causing separation of alleles, explaining Mendel’s law of segregation.
  • Different chromosome pairs assort independently during meiosis, accounting for Mendel’s law of independent assortment.
  • Fertilization restores the paired condition of chromosomes and genes, ensuring continuity of inheritance across generations.
Key Points: Sex Determination in Humans
  1. In human beings, the sex of a child is genetically determined by the combination of sex chromosomes inherited from the parents.
  2. Humans have 23 pairs of chromosomes, where one pair is the sex chromosomes – XX in females and XY in males.
  3. The mother always contributes an X chromosome, while the father contributes either X or Y.
  4. If the child inherits an X from the father, the child will be a girl (XX); if the child inherits a Y, the child will be a boy (XY).
  5. Therefore, it is the father’s chromosome (X or Y) that determines the sex of the child.
Key Points: Mendelian Disorders in Humans
Disorder Inheritance Type Chromosome Involved Main Defect Key Features
Haemophilia X-linked recessive X-chromosome Defective blood-clotting protein Excessive bleeding from minor cuts; mainly affects males
Colour Blindness X-linked recessive X-chromosome Defect in red/green cone pigments Inability to distinguish red and green colours
Sickle-Cell Anaemia Autosomal recessive Autosome (Chr 11) Valine replaces glutamic acid in β-globin Sickle-shaped RBCs, anaemia, reduced oxygen transport
Phenylketonuria (PKU) Autosomal recessive Autosome Lack of enzyme converting phenylalanine to tyrosine Mental retardation due to phenylalanine accumulation
Thalassaemia Autosomal recessive Autosomes (Chr 11 / 16) Reduced synthesis of α or β globin chains Severe anaemia, fragile RBCs
Albinism Autosomal recessive Autosome Absence of tyrosinase enzyme → no melanin Very pale skin, hair and eyes; sun sensitivity
Key Points: Chromosomal Disorders or Abnormalities
Chromosomal Disorder Chromosomal Abnormality Karyotype Major Features Remarks
Down’s Syndrome Extra copy of chromosome 21 (Trisomy 21) 47, +21 Short stature, small round head, furrowed tongue, partially open mouth, broad palm with single crease, mental and physical retardation Most common autosomal aneuploidy
Klinefelter’s Syndrome Extra X chromosome in males 47, XXY Masculine body with feminine traits (gynecomastia), underdeveloped testes, sterile Sex-chromosome aneuploidy
Turner’s Syndrome Absence of one X chromosome 45, XO Short stature, rudimentary ovaries, absence of secondary sexual characters, sterile female Only monosomy compatible with life
Aneuploidy Gain or loss of one or more chromosomes due to non-disjunction 2n ± 1 Severe developmental abnormalities Includes trisomy and monosomy
Polyploidy Increase in whole set of chromosomes due to failure of cytokinesis 3n, 4n, etc. Common in plants; increases size and vigor Rare and usually lethal in animals

Important Questions [24]

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