0130 Explanation Slides Classification of Genetic Disorders (1)

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<ul><li><p>8/12/2019 0130 Explanation Slides Classification of Genetic Disorders (1)</p><p> 1/11</p><p> 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk</p><p>Classification of Genetic Disorders</p><p>This PowerPoint file contains a number of slides that may be useful forteaching of genetics concepts.</p><p>You may use these slides and their contents for non-commercial</p><p>educational purposes.</p></li><li><p>8/12/2019 0130 Explanation Slides Classification of Genetic Disorders (1)</p><p> 2/11</p><p> 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk</p><p>Fig. 13.3Scion Publishing Ltd</p><p>Etiology of diseases.For any condition the overall balance of genetic and environmental determinants can be represented by a pointsomewhere within the triangle.</p></li><li><p>8/12/2019 0130 Explanation Slides Classification of Genetic Disorders (1)</p><p> 3/11</p><p> 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk</p><p>Classification of genetic disorders</p><p> Multifactorial</p><p> Single gene</p><p> Chromosomal</p><p> Mitochondrial</p><p> Somatic mutations (cancer)</p><p>Male</p><p>+ environment</p></li><li><p>8/12/2019 0130 Explanation Slides Classification of Genetic Disorders (1)</p><p> 4/11</p><p> 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk</p><p>Fig. 1.15Scion Publishing Ltd</p><p>Continuum of penetrance.</p><p>There is a continuum of penetrance from fully penetrant conditions, where other genes and environmentalfactors have no effect, through to low-penetrance genes that simply play a small part, along with other geneticand environmental factors, in determining a persons susceptibility to a disease.</p><p>Multiple sclerosis is used as an example of a multifactorial condition where genetic factors play a major part indetermining susceptibility, but current research suggests that each individual factor has a very low penetrance.</p></li><li><p>8/12/2019 0130 Explanation Slides Classification of Genetic Disorders (1)</p><p> 5/11</p><p> 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk</p><p>Genetic factors</p><p>Male</p><p>Mutations in singlegenes (often causing loss</p><p>of function)</p><p>Variants in genes causingalterationof function</p><p>Chromosomal imbalancecauses alteration ingene</p><p>dosage</p></li><li><p>8/12/2019 0130 Explanation Slides Classification of Genetic Disorders (1)</p><p> 6/11</p><p> 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk</p><p>Classification of genetic disorders</p><p>Male</p><p>Mutations in single genes</p><p>Variants in genes</p><p>Chromosomal imbalance</p><p>Single Gene Disorders</p><p>Multifactorial diseases</p><p>Chromosome disorders</p><p>+ environment</p></li><li><p>8/12/2019 0130 Explanation Slides Classification of Genetic Disorders (1)</p><p> 7/11</p><p> 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk</p><p>Recessive</p><p>Homozygotes with two copiesof the altered gene areaffected</p><p>Dominant</p><p>Heterozygotes with one copyof the altered geneare affected</p><p>X-linked recessive</p><p>Males with one copyof the altered gene on theX-chromosome are affected</p><p>Male</p></li><li><p>8/12/2019 0130 Explanation Slides Classification of Genetic Disorders (1)</p><p> 8/11</p><p> 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk</p><p>Genetic disorders Multifactorial (common)</p><p>- Environmental influences act on a genetic predisposition to produce a liability toa disease.</p><p>- One organ system affected.</p><p>- Person affected if liability above a threshold.</p><p> Single gene (1% liveborn)-Dominant/recessive pedigree patterns (Mendelian inheritance).- Can affect structural proteins, enzymes, receptors, transcription factors.</p><p> Chromosomal (0.6% liveborn)</p><p>- Thousands of genes may be involved.- Multiple organ systems affected at multiple stages in gestation.- Usually de novo (trisomies, deletions, duplications) but can be inherited(translocations).</p></li><li><p>8/12/2019 0130 Explanation Slides Classification of Genetic Disorders (1)</p><p> 9/11</p><p> 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk</p><p>GENETIC ENVIRONMENTAL</p><p>Duchennemuscular dystrophy</p><p>HaemophiliaOsteogenesis imperfecta</p><p>Club footPyloric stenosisDislocation of hip</p><p>Peptic ulcerDiabetes</p><p>Tuberculosis</p><p>Phenylketonuria</p><p>Galactosaemia</p><p>Spina bifidaIschaemic heart disease</p><p>Ankylosing spondylitis</p><p>Scurvy</p><p>The contributions of genetic and environmentalfactors to human diseases</p><p>RareGenetics simple</p><p>UnifactorialHigh recurrence rate</p><p>CommonGenetics complexMultifactorialLow recurrence rate</p></li><li><p>8/12/2019 0130 Explanation Slides Classification of Genetic Disorders (1)</p><p> 10/11</p><p> 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk</p><p> Multifactorial</p><p>Environmental influences act on a genetic predispositionOne organ system affected</p><p> Single geneDominant/recessive pedigree patternsStructural proteins, enzymes, receptors, transcription factors</p><p> ChromosomalMultiple organ systems affectedInherited or de novo</p><p> EnvironmentalDrugs, infections</p></li><li><p>8/12/2019 0130 Explanation Slides Classification of Genetic Disorders (1)</p><p> 11/11</p><p> 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk</p><p>Single gene disorders</p><p>- High risks to relatives</p><p>- Dominant/recessive pedigree patterns</p><p>- Some isolated cases due to new dominant mutations</p><p>- Structural proteins, enzymes, receptors, transcription factors</p><p>I:1AA</p><p>I:2AB</p><p>II:1AA</p><p>II:2AB</p><p>II:3BB</p><p>?</p><p>III:1BB</p><p>Tom</p><p>I:2I:1 I:3</p><p>II:1 II:2 II:3 II:4 II:5 II:6 II:7 II:8 II:9 II:10 II:11 II:12 II:13 II:14 II:15</p><p>III:1 III:2 III:3</p><p>IV:1 IV:2 IV:3 IV:4</p><p>III:4 III:5</p><p>IV:5 IV:6 IV:7</p><p>III:6 III:7</p><p>IV:8 IV:9 IV:10</p><p>III:8 III:9 III:10 III:11 III:12 III:14III:13 III:15 III:16 III:17</p><p>IV:11 IV:12 IV:13</p><p>I:1 I:2</p><p>II:1 II:2 II:3 II:5 II:6 II:8</p><p>III:1 III:2</p><p>IV:1</p></li></ul>