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.

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.

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

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.

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.

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

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.

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 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 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.