6.2高通量测序技术在精准医学中的应用.pdf

Applications in Precision Medicine Identifynewdisease genes Genomics-baseddiagnostics Precisiontreatment 7 Trait Gene/locus Reference 1. Psoriasis beta-defensin Hollox et al, 2008 Identify Emphysema 5p15.33, 7q22.1 Choi et al, 2009 Acute myocardial infarction and C4B encoding C4 Blasko et al., 2008 new stroke (smokers) disease Alveolar capillary dysplasia FOXF1 Stankiewicz et al, 2009 Hypertrichosis 17q24.2-q24.3 Sun et al, 2009 genes Chronic pancreatitis PRSS1 Le Marechal et al, 2008 Lupus with glomerulonephritis FCGR3B Aitman et al, 2006 Crohn disease HBD-2 (beta-defensin), IRGM Fellermann et al, 2006 McCarroll et al, 2008 Heterozygous familial LDLR Pollex et al, 2007 hypercholesterolemia Atherosclerosis LPA Pollex et al, 2007 Hemophilia A Factor VIII Lakich et al, 1993 Malaria susceptibility a-globin Fl