1. Nucleic Acids: DNA & RNA DNA (Deoxyribonucleic Acid) e Structure: Double helix; made of nucleotides (phosphate + deoxyribose sugar + nitrogen base). e Bases: Adenine (A), Thymine (T), Cytosine (C), Guanine (G) e Base pairing: A-T (2 hydrogen bonds), C-G (3 hydrogen bonds) e Function: Stores genetic information used for development, functioning, and reproduction. RNA (Ribonucleic Acid) e Structure: Single-stranded; ribose sugar instead of deoxyribose; Uracil (U) replaces Thymine. e Types & Functions: e@ mRNA (messenger RNA): Carries genetic code from DNA to ribosome. e tRNA (transfer RNA): Brings amino acids to ribosome during translation. e rRNA (ribosomal RNA): Structural and enzymatic component of ribosomes. e snRNA (small nuclear RNA): Involved in splicing during mRNA processing. e@ miRNA/siRNA: Regulatory roles in gene expression (post- transcriptional silencing). 2. Chromosomes, Genes, Alleles Chromosomes e DNA packaged with histone proteins in the nucleus. Humans have 46 (23 pairs). e Autosomes: 22 pairs, Sex chromosomes: 1 pair (XX or XY) Genes e Asequence of DNA coding for a specific protein or RNA. e Located on chromosomes. AllelesVariants of a gene (e.g., gene for eye color has blue and brown alleles). Homozygous: Same alleles (AA or aa); Heterozygous: Different alleles (Aa) 3. Genetic Code Triplet code: 3 nucleotide bases = 1 codon = 1 amino acid Universal, non-overlapping, degenerate (multiple codons can code the same amino acid) Start codon: AUG (codes for Methionine) Stop codons: UAA, UAG, UGA 4. Central Dogma: Transcription & Translation Transcription (DNA > RNA) Location: Nucleus Enzyme: RNA polymerase binds to promoter, synthesizes pre- mRNA from DNA template. Post-transcriptional modifications: 5' cap Poly-A tail Splicing (removal of introns, joining exons) Translation (RNA > Protein) Location: Cytoplasm (on ribosomes) Initiation: MRNA binds ribosome, tRNA brings Methionine. Elongation: Codon-anticodon match, amino acids joined by peptide bonds. Termination: Stop codon is reached; polypeptide is released. 5. Enzymes in Genetics DNA polymerase: Synthesizes new DNA during replication. RNA polymerase: Transcribes DNA to RNA. Helicase: Unwinds DNA. Ligase: Joins Okazaki fragments. Restriction enzymes: Cut DNA at specific sequences (used inbiotechnology). e Reverse transcriptase: RNA — DNA (used by retroviruses like HIV). 6. Genetics & Inheritance (Heritage) Types of Inheritance e@ Mendelian (monogenic): Dominant (e.g., Huntington's disease) Recessive (e.g., cystic fibrosis) Non-Mendelian: Incomplete dominance Codominance (e.g., AB blood group) Polygenic traits (e.g., height, skin color) Mitochondrial inheritance (passed via mother) 7. Genetic Diseases & Carriage Monogenic (single gene) e Dominant: One mutated allele enough (e.g., Marfan syndrome) e Recessive: Two mutated alleles needed e Carriers: One mutated allele, no symptoms but can pass it on e Examples: Sickle cell anemia, Tay-Sachs, PKU Chromosomal Abnormalities e Caused by nondisjunction, deletions, duplications e@ Down syndrome (Trisomy 21) e Turner syndrome (XO) e Klinefelter syndrome (XXY) Multifactorial diseases e@ Caused by gene + environment (e.g., diabetes, heart disease, cancer susceptibility) 8. Mutations e Point mutation: One base change (silent, missense, nonsense)Frameshift mutation: Insertion/deletion that shifts the reading frame Causes: Radiation, chemicals, replication errors Effects: Can be neutral, harmful, or beneficial Bonus — Modern Applications Gene therapy: Treating disease by correcting faulty genes CRISPR-Cas9: Genome editing tool Genetic testing: Detects gene mutations in individuals/ fetuses Pharmacogenomics: Using genetics to tailor drug treatment 1. DNA Packaging and Chromatin Structure Histones: DNA wraps around histone proteins to form nucleosomes — basic units of chromatin. Chromatin types: Euchromatin — loosely packed, transcriptionally active Heterochromatin — tightly packed, inactive 2. RNA Processing (extra detail) Alternative splicing: One gene can produce multiple proteins by varying exon combinations. 3. Gene Regulation (Eukaryotes) Transcription factors: Proteins that regulate gene expression by promoting or blocking RNA polymerase binding. Enhancers & silencers: DNA sequences that modulate gene expression from a distance. Epigenetics: Heritable changes that don't alter DNA sequence (e.g., DNA methylation, histone acetylation). 4. Types of RNA (expanded) snRNA: Involved in forming the spliceosome. snoRNA: Modifies rRNA in the nucleolus. miRNA & siRNA: Inhibit translation or degrade mRNA — part of post-transcriptional regulation.5. More on Mutations Silent mutation: Base change but no amino acid change Missense: One amino acid is changed (can be harmful or neutral) Nonsense: Introduces a premature stop codon Examples: Sickle cell anemia: Missense mutation in hemoglobin gene Duchenne muscular dystrophy: Frameshift or nonsense mutations 6. Genetic Inheritance Patterns (specifics) X-linked inheritance: Males are more affected (e.g., hemophilia, color blindness) Female carriers may pass disease to sons Y-linked traits: Very rare, passed from father to all sons Mitochondrial inheritance: Passed only from mother to all children 7. Genetic Disorders (add more examples) Autosomal recessive: Cystic fibrosis Phenylketonuria (PKU) Autosomal dominant: Huntington's disease Achondroplasia Chromosomal deletion syndromes: Cri-du-chat syndrome (deletion on chromosome 5) 8. Carriers & Genetic Testing Carrier screening: Identifies individuals who carry one copy of a recessive gene. Preimplantation genetic diagnosis (PGD): Used during IVF to screen embryos. Prenatal testing: Amniocentesis, chorionic villus sampling