मराठी

Overview of Inheritance and Variation

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Maharashtra State Board: Class 12

Key Points: Genetic Terminology

Term Definition Example / Key Point
Character A specific feature of an organism Height of plant
Trait Detectable inherited form of a character Tall or dwarf
Factor Unit of heredity responsible for a character Passed through gametes
Gene Segment of DNA controlling inheritance and expression of a character Modern term for factor
Alleles (Allelomorphs) Alternative forms of the same gene at same locus T and t
Dominant Allele expressed in heterozygous condition T expressed in Tt
Recessive Allele expressed only in homozygous condition t expressed in tt
Phenotype Observable external appearance Tall or dwarf
Genotype Genetic makeup for a trait TT, Tt, tt
Homozygous (Pure) Individual with identical alleles TT or tt
Heterozygous (Hybrid) Individual with contrasting alleles Tt
Pure line Homozygous, true-breeding individuals TT plant
Monohybrid Heterozygous for one trait Tt
F₁ Generation First filial generation from parental cross Offspring of TT × tt
F₂ Generation Generation produced by selfing F₁ Tt × Tt
Punnett Square Diagram predicting offspring combinations Checkerboard method
Homologous Chromosomes Similar chromosomes forming a pair Pair during meiosis
Back Cross F₁ crossed with any parent Tt × TT or tt
Test Cross F₁ crossed with homozygous recessive Tt × tt
Phenotypic Ratio Ratio based on visible traits 3 Tall : 1 Dwarf
Genotypic Ratio Ratio based on genetic makeup 1 TT : 2 Tt : 1 tt
Monohybrid Cross Cross involving one contrasting trait Tall × dwarf
Dihybrid Cross Cross involving two contrasting traits Tall round × dwarf wrinkled
Maharashtra State Board: Class 12

Definition: Autosomal Inheritance

The transmission of characters from parents to offspring through genes present on autosomes is called autosomal inheritance.

Maharashtra State Board: Class 12

Key Points: Thalassemia

  • Thalassemia is an autosomal recessive inherited blood disorder caused by defective synthesis of haemoglobin chains.
  • It occurs due to mutation or deletion of genes controlling globin chains—alpha chains (HBA1, HBA2 on chromosome 16) or beta chain (HBB on chromosome 11).
  • Based on the affected chain, thalassemia is classified into alpha-thalassemia and beta-thalassemia.
  • It leads to symptoms like anaemia, pale skin, abnormal RBCs, slow growth, and often requires repeated blood transfusions for management.
Maharashtra State Board: Class 12

Key Points: Turner’s Syndrome

  • Turner’s syndrome is a sex chromosomal disorder caused due to non-disjunction, resulting in XO karyotype (44 autosomes + XO).
  • Affected individuals are phenotypically female but show poor development of ovaries and breasts, leading to sterility.
  • Common features include short stature, webbed neck, broad chest, low posterior hairline, and reduced intelligence.
Maharashtra State Board: Class 12

Key Points: Klinefelter’s Syndrome

  • Klinefelter’s syndrome is a sex chromosomal disorder caused by the presence of an extra X chromosome, giving the genotype 44 + XXY due to non-disjunction during meiosis.
  • Affected individuals are phenotypically male but show feminized features, including gynaecomastia, underdeveloped testes, and absence of spermatogenesis, leading to sterility.
  • Common characteristics include tall stature with long arms, harsh-pitched voice, and overall masculine appearance with some feminine traits.
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