Exploring Genetics: Fundamentals to Disorders and Beyond

Explore how cells, organelles, and chromosomes organize hereditary material, how proteins and amino acids power body functions, and how gene mutations influence genetic pathways.

Explore mitochondrial DNA and its role in energy production through oxidative phosphorylation and adenosine triphosphate synthesis, and summarize gene concepts, chromosomes, and mutation types.

Base pair insertions and deletions cause frameshifts that alter amino acids and reading frames. Lecture describes hereditary and acquired mutations, de novo cases, role of DNA repair in disease.

Explains copy number variation, with insertions, deletions, and duplications that alter gene copies and affect health. Shows how aneuploidy and trisomy or monosomy, along with structural changes, shape disease risk.

Examine the human genome's nucleotide sequence, its variable SNPs and microsatellites, and how international sequencing efforts, including the human genome project, produced draft and complete genome insights.

Explore the human genome's gene structure, including exons, introns, mRNA splicing and alternative splicing, plus mitochondrial genome and genome project insights.

Discover how DNA stores biological instructions, including nuclear and mitochondrial DNA, base pairs and the genome, and how transcription and translation convert DNA into proteins.

Explore how the DNA double helix base pairing enables replication and transcription to mRNA, with GC content and stability shaping melting and dsDNA versus ssDNA.

Explore genetic markers, loci, and alleles, including SNPs and microsatellites, and explain how inheritance, transcription, and intron and exon structure shape genetic variation.

Explore the role of RNA in the central dogma, detailing transcription of DNA to mRNA, translation by ribosomes, and the functions of mRNA and tRNA.

Explore how DNA replication starts with helicase-driven strand separation at the origin of replication, forms a replication fork, and uses RNA primers with leading and lagging strands for semiconservative synthesis.

Understand transcription from DNA to pre-messenger RNA, RNA splicing and alternative splicing generating diverse protein isoforms, reverse transcription, and translation driven by the universal genetic code.

Explore the wobble hypothesis and third-base flexibility enabling tRNA to recognize codons, the role of DNA repair in correcting mismatches, and genotype, phenotype, haplotype, recombination, and chromosome structure.

Explore how inosine, a guanosine analog in RNA, influences base pairing, degeneracy, and mutagenicity; examine mismatch stability, DNA repair recognition, and UV melting measurements.

Examine DNA repair mechanisms: direct reversal, base excision, nucleotide excision, and mismatch repair, with MGMT and glycosylases, and how repair failures drive mutations, disease, and antibiotic resistance.

Understand how DNA binding proteins recognize single- and double-stranded DNA and induce base flipping. Explore how base flipping enables methylation, glycosylase repair, and damage recognition through active-site interactions.

Explore sequencing types and analysis methods, from PCR amplification with Taq polymerase to Sanger sequencing, DNA fingerprinting, STR and SNP analyses, and automated fluorescence detection.

Explore advances in sequencing throughput from gel-based to capillary and next-gen technologies, including fluorescent dyes, Sanger automation, STR-based DNA fingerprinting, and PCR-based mutation detection.

Explore fluorogenic real-time PCR, contrasting non-specific sybr green detection with sequence-specific probes like TaqMan to detect mutations, such as in the cystic fibrosis gene.

Explore sequencing techniques and analysis methods, including DNA microarrays, cDNA synthesis, fluorescence labeling, and fluorescent in situ hybridization, highlighting expression analysis and high-throughput applications.

Explore how gene mutations in DNA create disorders, covering point mutations, silent, missense, and nonsense changes, along with insertions, deletions, and frameshifts.

Explain patterns of inheritance—autosomal dominant, autosomal recessive, and x-linked recessive—with carrier status and typical risks, and compare the genetic and somatic mutation theories of aging.

Explore genetic testing methods to identify disorders, including gene tests, chromosome tests (karyotype, Fish analysis, array CGH), and biochemical tests, and understand carrier status, presymptomatic risk, prenatal and newborn screening.

Explore chromosomal abnormalities, single gene defects, multifactorial and teratogenic problems, with examples like Down syndrome, cystic fibrosis, and Duchenne muscular dystrophy, and learn genetic testing, counseling, and prenatal methods.

Huntington's disease is a brain disorder caused by a defective gene on chromosome 4, autosomal dominant, leading to defective huntingtin protein and movement, cognitive, and psychiatric symptoms.

Identify the defective huntingtin gene with 40 or more CAG repeats on chromosome four, and discuss available diagnostic testing and symptom-management options given there is no cure.

Explore sickle cell diseases, an inherited disorder of abnormal hemoglobin S that forms crescent-shaped red blood cells, causing vaso-occlusion, anemia, tissue damage, and multi-organ complications, with diagnosis and management.

Explore Down syndrome, a trisomy 21 genetic disorder causing intellectual disability and health issues, and learn about causes, risk factors, and prenatal screening and diagnostic tests.

Explore Down syndrome screening and diagnostic options, including quad screen, cell-free fetal DNA, amniocentesis, CVS, and karyotype confirmation, plus early intervention and team care.

Explore the progression, symptoms, and underlying genetics of Parkinson's disease, including tremors, bradykinesia, dopamine loss, Lewy bodies, and potential gene therapy approaches.

Explore thalassemia and cerebral palsy as inherited disorders, detailing causes, symptoms, diagnoses, and treatments, and note bipolar disorder as another genetic example.

Explore birth trauma and early brain injury as causes of cerebral palsy, including Apgar scores, breech delivery, infections, and low birth weight, then review bipolar disorder symptoms and treatment.

Explore Gaucher disease, an autosomal recessive disorder caused by GBA mutations that leads to fatty substance buildup in the spleen, liver, and bones, and review its three types.