WEEK 1st
History of Human Genetics, Pedigree Analysis (Pedigree symbols and construction of pedigrees, inheritance pattern and risk assessment
Presentation of molecular genetic data in pedigrees)
Patterns of Inheritance for Monogenic Traits:
Autosomal inheritance-dominant, recessive, sex-linked inheritance, sex-limited and sex- influenced traits and mitochondrial inheritance
Deviations from the basic pedigree patterns- nonpenetrance, variable expressivity, pleiotropy, late onset, dominance problems, anticipation, genetic heterogeneity and uniparental disomy. X-inactivation and dosage compensation
Mosaicism and chimerism, consanguinity and its effects, epigenetic modifications and imprinting
WEEK 2nd
Human Genome Project: History, organization and goals of human genome project.
Tools (Vectors- BAC, PAC, YAC and sequencing techniques) and approaches (Hierarchical and shotgun sequencing), outcomes ethical issues and applications in human diseases
Organization of the Human Genome: General features: Gene density, CpG islands, RNA-encoding genes. Gene clusters, diversity in size and organization of genes, types of repetitive DNA, pseudogenes, gene families
Endoreplication and amplification
genetic markers and their applications
WEEK 3rd
Human Cytogenetics Technique: Fluorescence in situ hybridization (FISH)
Human karyotype:
Banding pattern and nomenclature (G and Q banding)
Common syndromes due to numerical chromosome changes
Common syndromes due to structural alterations(translocations,duplications,
deletions, microdeletion, fragile sites
Common chromosome abnormalities in cancer
Techniques for Genomics: DNA sequencing (Maxam-Gilbert and Sanger Method, introduction to NGS), DNA fingerprinting,
WEEK 4th
Polymorphism screening (genotyping of SNPs )
Microsatellite markers, expression and proteome analysis.
Population Genetics: Genotypic and allelic frequencies, linkage disequilibrium, haplotype construction (two loci using SNPs and/or microsatellites)
Mapping Strategies: Physical maps (different types- restriction, cytogenetic maps, use of FISH in physical mapping, radiation hybrids and clone libraries in STS mapping) and genetic maps
WEEK 5th
Identification of Genetic Basis of Disease
Principles and strategies, positional and candidate gene approaches, positional- cloning approach (examples- HD, CFTR), concept of twin and adoption studies
Prenatal Diagnosis: Brief introduction, methods of prenatal diagnosis
Clinical Genetics: Inborn errors of metabolism and their genetic basis (example- phenylketonuria), genetic disorders of haemopoietic systems (examples- sickle cell anemia and thalassemia),
Genetic basis of color blindness
WEEK 6th
Biosafety of human genetics:
Biosafety for human Health and Environment. Biosafety issues for using cloned genes in Medicine, Agriculture, Industry, and Ecoprotection.
Gene Pollution, Biological Invasion, Risk and Safety Assessment from Genetically Engineered Organisms, Special Procedures for r-DNA based products, Biological Warfare, Biological Containment (BC) and Physical Containment (PC),
CDC Biosafety levels, Biosafety in Clinical Laboratories and Biohazard Management
Bioethics of human genetics:
Ethical Issues of the Human Genome Project, Code of Ethics in Medical/clinical laboratories. Ethical Issues of Xenotransplantation,
Ethics involved in Embryonic and Adult Stem Cell Research, Ethics in Assisted Reproductive Technologies: animal and human cloning and Invitro fertilization, the element of Informed Consent
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