Genetics of Complex Traits and diseases 张咸宁 zhangxianning@zju.edu.cn Tel:13105819271;88208367 Office: A705, Research Building 2012/09
Genetics of Complex Traits and Diseases 张咸宁 zhangxianning@zju.edu.cn Tel：13105819271; 88208367 Office: A705, Research Building 2012/09
Genetic Susceptibility易感性 An inherited predisposition to a disease or disorder which is not due to a single-gene cause and is usually the result of a complex interaction of the effects of multiple different genes, l.e. polygenIc inheritance
Genetic Susceptibility易感性 • An inherited predisposition to a disease or disorder which is not due to a single-gene cause and is usually the result of a complex interaction of the effects of multiple different genes, i.e. polygenic inheritance
Any disease is the result of the combined action of genes and environment Classification of genetic disorders 1. Chromosome disorders 2. Single-gene disorders 3. Complex (multifactorial. polygenic) disorders: 4. Somatic cell genetic disorders: 5. Mitochondrial genetic disorders
Any disease is the result of the combined action of genes and environment Classification of genetic disorders: 1. Chromosome disorders: 2. Single-gene disorders: 3. Complex (multifactorial, polygenic) disorders: 4. Somatic cell genetic disorders: 5. Mitochondrial genetic disorders:
ABO Rhesus blood hemolytic Hirschsprung adu group disease disease stature Mendelian polygenIc (monogenic Figure 3.1 Human Molecular Genetics, 4ed (o Garland Science) ABO blood group depends (with rare exceptions) on the genotype at just one locus, the AB0 locus at chromosome 9q34 rhesus hemolytic disease of the newborn depends on the genotypes of mother and baby at the RHD locus at chromosome 1p36, but also on mother and baby's being aBo compatible. Hirschsprung disease depends on the interaction of several genetic loci. Adult stature is determined by the cumulative small effects of many loci. Environmental factors are also important in the etiology of rhesus hemolytic disease, Hirschsprung disease, and adult height
• ABO blood group depends (with rare exceptions) on the genotype at just one locus, the ABO locus at chromosome 9q34. Rhesus hemolytic disease of the newborn depends on the genotypes of mother and baby at the RHD locus at chromosome 1p36, but also on mother and baby's being ABO compatible. Hirschsprung disease depends on the interaction of several genetic loci. Adult stature is determined by the cumulative small effects of many loci. Environmental factors are also important in the etiology of Rhesus hemolytic disease, Hirschsprung disease, and adult height
Why study the genetics of common diseases? Understanding the underlying genetics will lead to understanding the causes, which may lead to better and more specific therapies Identification of the responsible genes helps to identify those who are at risk in families and in the population, allowing individualized health assessment and targeted prevention
Why study the genetics of common diseases? • Understanding the underlying genetics will lead to understanding the causes, which may lead to better and more specific therapies • Identification of the responsible genes helps to identify those who are at risk in families and in the population, allowing individualized health assessment and targeted prevention