USMLE Genetics: High Yield Terms You MUST Know (Part 1)

[Detailed Timestamps] 0:00 Introduction to Medical Genetics & USMLE Step 1 High-Yield Concepts 1:25 Dominant Negative Mutations: Mechanisms and the p53 Tumor Suppressor Example 4:40 Linkage Disequilibrium: Measuring Allele Proximity in Populations 6:10 Mosaicism Explained: Somatic vs. Germline (Gonadal) Mutations 7:46 McCune-Albright Syndrome: G-Protein Signaling Defects & Clinical Triad 9:30 Heterogeneity Deep Dive: Locus vs. Allelic Heterogeneity (Albinism & Thalassemia) 11:15 Mitochondrial Inheritance: Maternal Transmission & Heteroplasmy Fundamentals 12:50 Uniparental Disomy (UPD): Mechanisms of Isodisomy vs. Heterodisomy 15:15 Population Genetics: The Four Forces Shaping Genetic Variation 17:40 Hardy-Weinberg Equilibrium: Mastering the Mathematical Formula . 20:10 Clinical Application: Calculating Carrier Frequency in Cystic Fibrosis (CF) 22:05 Genomic Imprinting & Epigenetics: The Role of DNA Methylation 23:55 Prader-Willi Syndrome: Paternal Deletion & Maternal Imprinting Mechanics 25:20 Angelman Syndrome: Maternal Deletion (UBE3A) & "Happy Puppet" Features 27:05 Classical Inheritance Patterns: Autosomal Dominant vs. Recessive vs. X-Linked 28:50 Cystic Fibrosis (CF): The \DeltaF508 Mutation & Chloride Channel Dysfunction 31:30 Systemic Complications of CF: Respiratory Failure, Pancreatic Insufficiency & Infertility 34:00 Advanced Therapeutics: CFTR Potentiators and Correctors (Ivacaftor/Lumacaftor) 35:20 Muscular Dystrophies: Duchenne vs. Becker (Frameshift vs. Non-frameshift) 37:40 Clinical Evaluation of Weakness: Gowers’ Sign & Dystrophin Pathology 38:50 Myotonic Dystrophy: CTG Repeats & "Toupee" Mnemonic (Cataracts, Balding, Gonadal Atrophy) 40:35 Mitochondrial Myopathies: MELAS, MERRF, and Leber Hereditary Optic Neuropathy 41:50 Rett Syndrome: X-linked Dominant Inheritance & MECP2 Mutations in Females 43:40 Trinucleotide Repeat Expansion: Understanding Genetic Anticipation 44:50 Fragile X Syndrome: FMR1 Hypermethylation & CGG Repeat Expansion 47:20 Summary Table: Huntington (CAG), Myotonic (CTG), Fragile X (CGG), Friedreich Ataxia (GAA) 49:00 Conclusion: Integrating Genetics into Clinical Practice & Exam Strategy [Hashtags] #USMLE #Step1 #Biochemistry #Genetics #FirstAid2026 #MedicalSchool #IMG #MedEd #PraderWilli #AngelmanSyndrome #FragileX #HuntingtonDisease #MedicalStudent #HighYield #BoardPrep