Heredity and Variation
1. Introduction to Heredity
Heredity: The process of passing traits (like height, eye color) from parents to their children.
Variation: Differences in traits among individuals of the same species (e.g., some classmates are tall, others short).
Genetics: The branch of biology that studies how traits and genes are transferred across generations.
Reproduction:
- Asexual Reproduction: Offspring are almost identical to the parent, showing minor variations.
- Sexual Reproduction: Offspring show more variations due to mixing of genes from two parents.
2. Genes and Traits
Genes: Small segments of DNA that carry instructions for specific traits (e.g., hair color).
- Found on chromosomes in the cell nucleus.
- Control protein synthesis, which affects traits.
Example: Plant height depends on growth hormones. Efficient enzymes (coded by genes) produce more hormones, making plants taller. Less efficient enzymes result in shorter plants.
Inherited Traits: Characteristics passed from parents, like skin color or ear shape.
Phenotype: The visible trait (e.g., tall or short plant).
Genotype: The gene combination responsible for the trait (e.g., TT or tt).
3. Chromosomes
Definition: Thread-like structures in the cell nucleus that carry genes.
Composition: Made of DNA (deoxyribonucleic acid) and proteins.
Structure:
- Chromosomes appear dumbbell-shaped during cell division.
- Have a centromere (constricted region) dividing them into two arms.
Types of Chromosomes (based on centromere position):
- Metacentric: Centromere in the middle, V-shaped, equal arms.
- Sub-metacentric: Centromere near the middle, L-shaped, one arm shorter.
- Acrocentric: Centromere near one end, j-shaped, one arm much smaller.
- Telocentric: Centromere at the end, i-shaped, only one arm.
Chromosome Numbers:
- Humans: 46 chromosomes (23 pairs).
- Other examples: Pea plant (14), Dog (78), Fruit fly (8).
Types of Chromosomes:
- Homologous Chromosomes: Pairs with similar shape and genes.
- Heterologous Chromosomes: Pairs with different shapes.
- Autosomes: 22 pairs in humans, control body traits.
- Sex Chromosomes (Allosomes): 1 pair (XX in females, XY in males), determine sex.
4. DNA (Deoxyribonucleic Acid)
Discovery: Found by Frederick Miescher in 1869, initially called nucleic acid.
Role: Controls cell functions, growth, and reproduction, earning it the title “Master Molecule.”
Structure (Watson and Crick’s Model, 1953):
- Double Helix: Looks like a twisted ladder.
Components:
- Sugar and Phosphate: Form the ladder’s rails.
- Nitrogenous Bases: Form the ladder’s rungs, paired as:
- Adenine (A) with Thymine (T).
- Cytosine (C) with Guanine (G).
Nucleotides: Building blocks of DNA, made of sugar, phosphate, and a base.
Genes: Segments of DNA that code for specific proteins, controlling traits.
DNA Fingerprinting:
- Identifies a person’s unique DNA sequence.
- Uses: Identifying criminals, determining lineage, paternity testing.
5. RNA (Ribonucleic Acid)
Role: Helps in protein synthesis, working with DNA.
Structure: Made of ribose sugar, phosphate, and bases (Adenine, Guanine, Cytosine, Uracil).
Types of RNA:
- Ribosomal RNA (rRNA): Part of ribosomes, where proteins are made.
- Messenger RNA (mRNA): Carries genetic instructions from DNA to ribosomes.
- Transfer RNA (tRNA): Brings amino acids to ribosomes for protein assembly.
6. Mendel’s Principles of Heredity
Gregor Johann Mendel: Austrian scientist (1822-1884), known as the “Father of Genetics.”
Experiments: Studied pea plants (Pisum sativum) to understand how traits are inherited.
Why Pea Plants?:
- Have clear, contrasting traits (e.g., tall vs. dwarf).
- Easy to cross-pollinate and grow.
Traits Studied:
- Seed shape: Round (dominant) vs. Wrinkled (recessive).
- Seed color: Yellow (dominant) vs. Green (recessive).
- Flower color: Purple (dominant) vs. White (recessive).
- Pod shape: Inflated (dominant) vs. Constricted (recessive).
- Pod color: Green (dominant) vs. Yellow (recessive).
- Flower position: Axillary (dominant) vs. Terminal (recessive).
- Plant height: Tall (dominant) vs. Dwarf (recessive).
Mendel’s Monohybrid Cross
Definition: A cross between two plants differing in one trait (e.g., plant height: tall vs. dwarf).
Key Terms:
- Dominant: Trait that appears in offspring (e.g., tall, denoted TT).
- Recessive: Trait hidden in offspring (e.g., dwarf, denoted tt).
Experiment:
Parental Generation (P1): Tall (TT) × Dwarf (tt).
Gametes: TT produces T; tt produces t.
First Filial Generation (F1): All tall (Tt, heterozygous).
Selfing F1 (P2): Tt × Tt.
Second Filial Generation (F2):
- Phenotypic Ratio: 3 tall (TT, Tt, Tt) : 1 dwarf (tt).
- Genotypic Ratio: 1 TT : 2 Tt : 1 tt.
Conclusion:
- Genes exist in pairs (e.g., T and t).
- During gamete formation, gene pairs separate (Law of Segregation).
- Dominant traits mask recessive traits in F1, but recessive traits reappear in F2.
Mendel’s Dihybrid Cross
Definition: A cross between two plants differing in two traits (e.g., seed shape and color).
Experiment:
Parental Generation (P1): Round-Yellow seeds (RRYY) × Wrinkled-Green seeds (rryy).
Gametes: RRYY produces RY; rryy produces ry.
First Filial Generation (F1): All Round-Yellow (RrYy, dihybrid).
Selfing F1 (P2): RrYy × RrYy.
Second Filial Generation (F2):
- Phenotypic Ratio: 9 Round-Yellow : 3 Round-Green : 3 Wrinkled-Yellow : 1 Wrinkled-Green.
- Genotypic Ratio: Complex, with 9 combinations (e.g., RRYY, RrYy, rryy).
Conclusion:
- Traits are inherited independently (Law of Independent Assortment).
- Each gene pair segregates independently during gamete formation.
7. Genetic Disorders
Definition: Diseases caused by abnormalities in chromosomes or gene mutations.
Types:
- Chromosomal Disorders: Due to changes in chromosome number or structure.
- Monogenic Disorders: Caused by a single gene mutation.
- Polygenic Disorders: Involve multiple genes and environmental factors.
- Mitochondrial Disorders: Due to defective mitochondrial DNA, inherited from the mother.
A. Chromosomal Disorders
Down Syndrome (Trisomy 21):
- Cause: Extra 21st chromosome (47 total chromosomes).
- Symptoms: Mental retardation, short height, flat nose, short fingers, life expectancy of 16-20 years.
Turner Syndrome (44+X):
- Cause: Missing one X chromosome in females.
- Symptoms: Sterility, underdeveloped reproductive organs, short stature.
Klinefelter Syndrome (44+XXY):
- Cause: Extra X chromosome in males.
- Symptoms: Sterility, underdeveloped reproductive organs.
B. Monogenic Disorders
Definition: Caused by mutation in a single gene, affecting protein production.
Examples:
Albinism:
- Cause: Lack of melanin pigment due to defective gene.
- Symptoms: Pale skin, white hair, pink eyes.
Sickle-Cell Anemia:
Cause: Mutation replaces glutamic acid with valine in hemoglobin, making RBCs sickle-shaped.
Symptoms: Joint pain, low hemoglobin, fatigue, swelling, frequent infections.
Types:
- Carrier (AS): One normal, one defective gene; mild or no symptoms.
- Sufferer (SS): Two defective genes; severe symptoms.
Diagnosis: Solubility test or electrophoresis.
Prevention: Avoid marriages between carriers; take folic acid tablets.
Note: Common in Maharashtra, affecting over 2.5 lakh people.
C. Mitochondrial Disorders
- Cause: Mutations in mitochondrial DNA, inherited only from the mother.
- Example: Leber Hereditary Optic Neuropathy (affects vision).
D. Polygenic Disorders
- Cause: Mutations in multiple genes, worsened by environmental factors.
- Examples: Cleft lip, cleft palate, diabetes, asthma, obesity, heart disorders.
- Note: Do not strictly follow Mendel’s principles due to complex interactions.
8. Harmful Effects of Tobacco
Tobacco Use: Smoking (cigarettes, bidis) or chewing tobacco.
Harmful Chemicals: Nicotine, carbon monoxide, ammonia, sulfur dioxide.
Effects:
- Causes cancer (lungs, mouth, larynx, bladder) due to uncontrolled cell growth.
- Affects digestion, causes cough, sleeplessness, and trembling.
- Leads to arteriosclerosis (hardened arteries) and hypertension.
- Shortens lifespan and causes visual disorders or tremors.
Prevention: Avoid all forms of tobacco to protect health.
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