Pleiotropy is the phenomenon in which a single gene influences or controls the expression of more than one phenotypic trait in an organism.
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
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
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
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.
- In a pair of contrasting traits, only one trait is expressed—this is the dominant trait.
- The trait that remains unexpressed is called recessive.
- 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.
- Each pair of alleles separates during gamete formation, with one going into each gamete.
- No blending occurs; alleles remain pure and distinct.
- 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.
- When two pairs of traits are considered, alleles of each trait assort independently during gamete formation.
- The inheritance of one trait does not affect the inheritance of the other.
- 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
Key Points: Sex Determination in Humans
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]
- Assertion: When the two genes in a dihybrid cross are situated on the same chromosome, the proportion of parental gene combinations is much higher than the nonparental type. Reason
- Describe the dihybrid cross upto F2 generation as conducted by Gregor Mendel using pure lines of Garden Pea for characters-seed shape and seed colour.
- Given Below Are the F2 – Phenotypic Ratios of Two Independently Carried Monohybrid Crosses : (I) 1 : 2 : 1 (Ii) 3 : 1
- How Would You Find Out Whether a Given Tall Garden Pea Plant is Homozygous Or Heterzygous? Substantiate Your Answer with the Help Fo Punnett Squares.
- Answer the Following Question. Write the Basis on Which Alfred Sturtevant Explained Gene Mapping.
- By using Punnett square depict the genotypes and phenotypes of test crosses (where green pod colour (G) is dominant over yellow pod colour (g)) in Garden pea with unknown genotype.
- "It is sometimes observed that the F1 progeny shows a phenotype that resembles both the parents." Explain this type of inheritance using the example of A, B, and O blood groups in human.
- State the difference between meiocyte and gamete with respect to chromosome number.
- A male honeybee has 16 chromosomes whereas its female has 32 chromosomes. Give one reason.
- Name the type of cell division involved in the production of sperms by honey bees.
- Answer the Following Question. Compare in Any Three Ways the Chromosomal Theory of Inheritance as Proposed by Sutton and Bovery with that of Experimental Results on Pea Plant Presented by Mendel.
- How many chromosomes do drones of honey bees possess?
- Explain mechanism of sex-determination in birds.
- Differentiate between ‘ZZ’ and ‘XY’ type of sex-determination mechanisms.
- Explain the Mechanism of 'Sex Determination' in Birds. How Does It Differ from that of Human Beings?
- Why Did T. H. Morgan Select Drosophila Melanogaster to Study Sex Linked Genes for His Lab Experiments ?
- What is Heterogamety ? Explain the Mechanism of Sex Determinatin in Drosophila.
- Explain the haplo-diploid method of sex determination in the honey bee.
- Write the Types of Sex-determination Mechanisms the Following Crosses Show. Give an Example of Each Type.
- Differentiate between male and female heterogamety.
- Answer the Following Question. Two Children, a and B Aged 4 and 5 Years Respectively Visited a Hospital with a Similar Genetic Disorder. Why Did the Treatment Provided to Girl a Required Repeated
- Answer the Following Question. Two Children, a and B Aged 4 and 5 Years Respectively Visited a Hospital with a Similar Genetic Disorder. How Was the Girl B Cured Permanently?
- Answer the Following Question. Two Children, a and B Aged 4 and 5 Years Respectively Visited a Hospital with a Similar Genetic Disorder. Name the Ailments the Two Girls Were Suffering From?
- The chromosome number is fixed for all normal organisms leading to species specification whereas any abnormality in the chromosome number of an organism results into abnormal individuals.
Concepts [23]
- Heredity and Variation
- Gregor Johann Mendel – Father of Genetics
- Mendel's Experiments on Inheritance
- Monohybrid Cross
- Punnett Square
- Back Cross and Test Cross
- Mendel's Laws > The Law of Dominance
- Mendel's Laws > The Law of Segregation (Law of Purity of Gametes)
- Exceptions to Mendel's Principles > Incomplete Dominance
- Exceptions to Mendel's Principles > Co-Dominance
- Dihybrid Cross
- Mendel's Laws > The Law of Independent Assortment
- Chromosomal Theory of Inheritance
- Linkage and Recombination
- Polygenic Inheritance
- Exceptions to Mendel's Principles > Pleiotropy
- Sex Determination
- Sex Determination in Humans
- Sex Determination in Honey Bees
- Mutations
- Pedigree Analysis
- Mendelian Disorders in Humans
- Chromosomal Disorders or Abnormalities
