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Introduction in Medical Genetics

Introduction in Medical Genetics. First lecture. What’s a ___?. Genetics : Is the branch of biology that deals with heredity and variation in all living organisms The subfields of genetics : Human genetics, Animal genetics, Plant genetics Medical genetics.

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Introduction in Medical Genetics

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  1. Introduction in Medical Genetics First lecture

  2. What’s a ___? • Genetics : Is the branch of biology that deals with heredity and variation in all living organisms • The subfields of genetics : • Human genetics, • Animal genetics, • Plant genetics • Medical genetics

  3. What’s a Medical Genetics? • Is the science or study of biological variation as it pertains to health and disease • Any application of genetic principles to medical practice. “Genetics – study of individual genes and their effects”: Includes studies of inheritance, mapping disease, genes, diagnosis, treatment, and genetic counseling

  4. Mendel deduced the underlying principles of genetics from these patterns • Segregation • Dominance • Independent assortment

  5. A Conceptual History of Medical Genetics 1900 Mendel’s Laws rediscovered Dominant inheritance of brachydactyly 1901 Inborn errors of metabolism 1902 1918 Anticipation described 1931 Cytoplasmic inheritance of mitochondrial DNA 1937 Linkage of color blindness and hemophilia 1955 Human diploid chromosome number is 46 1970 Amniocentesis for chromosomal disorders 1970 Tay-Sachs screening 1976 Human globin genes cloned

  6. A Conceptual History of Medical Genetics Mendel’s Laws rediscovered PCR 1985 1986 Duchenne muscular dystrophy gene 1986 Cystic Fibrosis gene Predictive genetic testing for Huntington Disease 1987 Decision to sequence entire human genome 1998 1991 Medical genetics became an ABMS specialty 1991 Draft sequence for the human genome 2001 Human genome sequence completed

  7. Genetics – history and key concepts… 1977Phillip Sharp and Richard Roberts find that protein-coding genes are carried in segments 1860sMendel’s work on peas allows the conclusion that traits are inherited through discrete units passed from one generation to the next 1940sBarbara McClintock describes mobile genetic elements in maize 1944Oswald Avery shows in bacteria that nucleic acids are the ‘transforming principle’ 1870s Friedrich Miescher describes nucleic acids 2001initial results from the Human Genome Project published 1909The word ‘gene’ coined by Danish botanist Wilhelm Johannsen 1953James Watson and Francis Crick publish the double helix model for DNA’s chemical structure 1910 Thomas Morgan’s work on fruitflies demonstrates that genes lie on chromosomes 1958Crick proposes the ‘central dogma’ for biological information flow: that DNA makes RNA makes protein

  8. Prenatal Genetics 1970s - Prenatal Ultrasound & Amniocentesis Inheritance of Genetically Complex Disorders Non-Mendelian Genetics Genomic Imprinting Triple Nucleotide Repeats Mitochondrial Inheritance 1990s - Neuropsychiatric Disorders, Diabetes, Cardiovascular Interaction of genes with environmental triggers Medical Genetics: 1950s to the present • DNA Genetics • 1953 - Watson and Crick’s Double Helix • 1992 –2003 Human Genome Project • 2003 -> the future of medical dx & tx

  9. Genetic Information • Gene – basic unit of genetic information. Genes determine the inherited characters. • Genome – the collection of genetic information. • Chromosomes – storage units of genes. • DNA - is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life

  10. Locus1 Possible Alleles: A1,A2 Locus2 Possible Alleles: B1,B2,B3 Chromosome Logical Structure • Locus – location of a gene/marker on the chromosome. • Allele – one variant form of a gene/marker at a particular locus.

  11. Human Genome Most human cells contain 46 chromosomes: • 2 sex chromosomes (X,Y): XY – in males. XX – in females. • 22 pairs of chromosomes named autosomes.

  12. Glossary & Definitions • Phenotype - the physical description of the character in an individual organism • i.e a green eyes • Genotype - the genetic constitution of the organism • Mutation - a change in the genetic material, usually rare and pathological • Polymorphism - a change in the genetic material, usually common and not pathological

  13. The colure of eyes, the colour of skin is heredity

  14. The colour and structure of our hair is also heredity

  15. What we’ve learned from our genome so far… • There are a relatively small number of human genes, less than 30,000, but they have a complex architecture that we are only beginning to understand and appreciate. • We know where 85% of genes are in the sequence. • We don’t know where the other 15% are because we haven’t seen them “on” (they may only be expressed during fetal development). • We only know what about 20% of our genes do so far. • So it is relatively easy to locate genes in the genome, but it is hard to figure out what they do.

  16. Human genome content • 1-2 % codes for protein products • 24% important for translation • 75% “junk” • Repetitive elements • Satellites (regular, mini-, micro-) • Transposons • Retrotransposons • Parasites

  17. Some Facts • In human beings, 99.9% bases are same • Remaining 0.1% makes a person unique • Different attributes / characteristics / traits • how a person looks • diseases he or she develops • These variations can be: • Harmless (change in phenotype) • Harmful (diabetes, cancer, heart disease, Huntington's disease, and hemophilia ) • Latent (variations found in coding and regulatory regions, are not harmful on their own, and the change in each gene only becomes apparent under certain conditions e.g. susceptibility to heart attack)

  18. Importance of Genetics to Medicine • • ≈50% of first trimester abortion are due to chromosomal abnormalities • • Congenital malformation: ≈2-3% of newborns. • • 2% infants are born with single gene disorder • • More than half of childhood blindness, deafness and mental retardation are due togenetic disorders.

  19. Importance of Genetics to Medicine • Changing focus of medicine: • Primary care physicians vs specialists • Prevention vs treatment • Genetic causation for both rare and common diseases • Human Genome Project • Designer drugs • Problem based approach taken in medical schools • Genetics as the link between basic research & clinical observation

  20. Categories of Genetic Disease • Genetic component of multifactorial illnesses • Polygenic conditions • Interaction of genetic & environmental factors • Addition or deletion of entire chromosomes or parts of chromosomes • Single gene disorders • Autosomal dominant • Autosomal recessive • X-linked

  21. Genetic Diseases

  22. Haemophilia Osteogenesis imperfecta Peptic ulcerDiabetes Club footPyloric stenosisDislocation of hip Duchenne muscular dystrophy Tuberculosis Scurvy Spina bifidaIschaemic heart diseaseAnkylosing spondylitis PhenylketonuriaGalactosaemia GENETICENVIRONMENTAL The contributions of genetic and environmental factors to human diseases RareGenetics simpleUnifactorialHigh recurrence rate CommonGenetics complexMultifactorialLow recurrence rate

  23. Multifactorial – Genes or Environment? 100% Environmental Struck by lightning Infection Weight Cancer Diabetes PKU –genetic basis but the damage is by an environmental agent Height 100% Genetic Sex, Down syndrome, achondroplasia

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