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Anatomy - First Year BHMS

Contents

Anatomy - First Year BHMS

Contents

CoursesBHMSAnatomy - First Year BHMSGENE & INHERITANCE

GENE & INHERITANCE

ContentMCQ

Gene as Unit of Inheritance

  1. Definition: Gene is a unit of heredity, a segment of DNA that carries information from one generation to the next. It is a sequence of nucleotides that code for a specific protein or RNA molecule.
  2. Functions:
    • Transcribes genetic information from DNA to RNA
    • Codes for the production of proteins or RNA molecules
    • Regulates gene expression and expression of other genes
  3. Types and Location:
    • Genes: Located in chromosomes, either autosomal (non-sex linked) or sex-linked (X or Y)
    • Genomic DNA: Located in the nucleus of eukaryotic cells
    • Mitochondrial DNA: Located in the mitochondria of eukaryotic cells

Types of Inheritance

  1. Definition: Types of inheritance refer to the mode of transmission of genes from parents to offspring.
  2. Autosomal Inheritance:
    • Definition: Autosomal inheritance refers to the transmission of genes located on non-sex chromosomes (autosomes).
    • Examples: Polygenic traits (e.g., height, eye color), monogenic traits (e.g., sickle cell anemia)
    • Inheritance Pattern: Autosomal dominant or recessive
  3. Sex-Linked Inheritance:
    • Definition: Sex-linked inheritance refers to the transmission of genes located on sex chromosomes (X or Y).
    • Examples: Hemophilia (X-linked recessive), color blindness (X-linked recessive)
    • Inheritance Pattern: X-linked dominant or recessive
  4. Mitochondrial Inheritance:
    • Definition: Mitochondrial inheritance refers to the transmission of genes located in the mitochondria.
    • Examples: Leber's hereditary optic neuropathy (LHON)
    • Inheritance Pattern: Maternal inheritance, since only egg cells contribute mitochondria to the zygote

Hereditary Diseases

  1. Definition: Hereditary diseases are conditions caused by genetic mutations or variations.
  2. Examples: Sickle cell anemia, cystic fibrosis, Huntington's disease
  3. Causes: Genetic mutations, gene deletion or duplication, chromosomal abnormalities

Meiosis

Meiosis โ†“ Formation of gametes โ†“ Fertilisation โ†“ Formation of zygote

Genetic Mutations

A โ†’ B โ†“ C โ†’ D

Gene Expression

A โ†“ Transcription โ†“ Translation โ†“ Protein synthesis

Gene Regulation

A โ†“ Promoter region โ†“ Transcription factor binding โ†“ Gene expression

Gene as Unit of Inheritance

  • Definition: Gene is a unit of heredity, a segment of DNA that carries information from one generation to the next.
  • Functions:
    • Transcribes genetic information from DNA to RNA
    • Codes for the production of proteins or RNA molecules
    • Regulates gene expression and expression of other genes
  • Types and Location:
    • Genes: Located in chromosomes, either autosomal (non-sex linked) or sex-linked (X or Y)
    • Genomic DNA: Located in the nucleus of eukaryotic cells
    • Mitochondrial DNA: Located in the mitochondria of eukaryotic cells

Types of Inheritance

  • Definition: Types of inheritance refer to the mode of transmission of genes from parents to offspring.
  • Autosomal Inheritance:
    • Definition: Autosomal inheritance refers to the transmission of genes located on non-sex chromosomes (autosomes).
    • Examples: Polygenic traits (e.g., height, eye color), monogenic traits (e.g., sickle cell anemia)
    • Inheritance Pattern: Autosomal dominant or recessive
  • Sex-Linked Inheritance:
    • Definition: Sex-linked inheritance refers to the transmission of genes located on sex chromosomes (X or Y).
    • Examples: Hemophilia (X-linked recessive), color blindness (X-linked recessive)
    • Inheritance Pattern: X-linked dominant or recessive
  • Mitochondrial Inheritance:
    • Definition: Mitochondrial inheritance refers to the transmission of genes located in the mitochondria.
    • Examples: Leber's hereditary optic neuropathy (LHON)
    • Inheritance Pattern: Maternal inheritance, since only egg cells contribute mitochondria to the zygote

Hereditary Diseases

  • Definition: Hereditary diseases are conditions caused by genetic mutations or variations.
  • Examples: Sickle cell anemia, cystic fibrosis, Huntington's disease
  • Causes: Genetic mutations, gene deletion or duplication, chromosomal abnormalities