📘Step 1. Curriculum Coverage
🔬 Pathology
Genetic Foundations and Mutations
- Define the terms mutation, hereditary, congenital, genotype, phenotype, codon and Mendelian disorder.
- Describe various types of mutations.
- Describe trinucleotide-repeat mutations.
- Enlist few examples of trinucleotide-repeat disorders.
- Describe mutations in mitochondrial genes.
Transmission Patterns of Single-Gene Disorders
- Enumerate transmission patterns of single gene disorders.
- Describe biochemical and molecular basis of Autosomal Dominant Disorders.
- Enlist few examples of Autosomal Dominant Disorders.
- Describe biochemical and molecular basis of Autosomal Recessive disorder.
- Enlist few examples of Autosomal Recessive Disorders.
- Describe mechanism of transmission of X-Linked disorders.
- Enumerate examples of X-Linked Disorders.
Biochemical and Molecular Basis of Single-Gene Disorders
- Discuss enzyme defects and their consequences.
- Describe defects in receptors and transport system.
- Describe alterations in structure, functions or quantity of non-enzyme proteins.
- Describe genetically determined adverse reactions to drugs.
Complex and Cytogenetic Disorders
- Describe multigeneic disorders with examples.
- Discuss Trisomy 21 and its molecular basis.
- Describe diagnostic clinical features of Trisomy 21.
Molecular Genetic Diagnosis
- Describe the basic principles of various molecular techniques including PCR, FISH and Southern/Western blotting.
- Enumerate indications of these techniques.