遗传学英文课件：MG 2014 ZJU fall 1 genetics and med sci

1、Medical Genetics,qiming_ Research Building A-713 8820-8274 /en 11/ User name and password:genetics,Ming Qi 祁鸣, PhD, FACMG HUGO Lecturer CAP Inspector ZJU Center for Genetic a full term product of regular delivery; fine until most recently with repeated urinary tr

2、act infection, hernias, bladder diverticulae; skeletal abnormalities including occipital exostoses Loose skin, “aged” faces His cousin and uncle had similar symptoms, John, a high school graduate came to the clinic for counseling,He has been offered for a full scholarship of hockey, He has a brother

3、 died of sudden cardiac with unknown reasons, What should he do?,Clinical Case 2,Features of medical history that raise genetic concerns,1.1 The concepts of Genetics in Medicine,Genetics and Medical Sciences The Concept of Gene What is Familial Disease What is Congenital Disease What is Inherited Di

4、sease or Genetic Disease The relationship between Genetic and Environmental factors on Human Diseases,The Relationship between Genetic and Environmental Factors on Human Diseases,Every Disease Has Its Genetic Component (s),Genetic Susceptibility to Viral Infection,Some Historic Landmarks of Genetics

5、 in Medicine,1866 Mendel: Genetic inheritance in sweet peas 1910 Morgan: chromosomal basis of linkage 1953 Watson APOE Alternative titles; symbols APOLIPOPROTEIN E, DEFICIENCY OR DEFECT OF, INCLUDEDHYPERLIPOPROTEINEMIA, TYPE III, INCLUDEDDYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d, IN

6、CLUDEDFAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA, INCLUDEDFAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA, INCLUDEDHYPERLIPEMIA WITH FAMILIAL HYPERCHOLESTEROLEMIC XANTHOMATOSIS, INCLUDEDBROAD-BETALIPOPROTEINEMIA, INCLUDEDFLOATING-BETALIPOPROTEINEMIA, INCLUDEDCORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO, INCLUDED Gene map locus 19q13.2 TEXT DESCRIPTION,Since 1966,DESCRIPTION Early Delineation Molecular Basis of Polymorphism ANIMAL MODEL ALLELIC VARIANTS(selected examples) REFERENCES,Since 1966,Genetic Testing Database ,1.4.5 Post Human Genome Projec