Basic Human Genetics

This course is designed to develop an appreciation for the groundwork carried out so far in order to gain an insight into mechanisms of human genetic diseases, relate to how it has been built on the numerous genetic studies carried out over decades to contribute to the understanding of relationship between genotype and phenotype. The time is poised for understanding human as a model organism. The course will also introduce the methods for whole genome analysis and the genome sequencing.

1st

History of Human Genetics, Pedigree Analysis (Pedigree symbols and construction of pedigrees, inheritance pattern and risk assessmentPresentation 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 imprinting2nd


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 amplificationgenetic markers and their applications3rd Human Cytogenetics Technique: Fluorescence in situ hybridization (FISH) Human karyotype:Banding pattern and nomenclature (G and Q banding)Common syndromes due to numerical chromosome changesCommon 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,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 maps5th 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 blindness6th 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