Chapter8GeneticsofCommonDisorderswithComplexInheritance精品概要.ppt

Chapter 8 Genetics of Common Disorders with Complex Inheritance 第 8 章 常见复杂遗传病的遗传学 Diseases such as congenital birth defects, myocardial infarction, cancer, mental illness, diabetes, and Alzheimer disease cause morbidity and premature mortality in nearly two of every three individuals during their lifetimes. They are thought to result from complex interactions between a number of genetic and environmental factors and therefore are said to follow a multifactorial (or complex) inheritance pattern. The relatives of an affected individual are more likely to experience the same gene-gene and gene-environment interactions that led to disease in the proband in the first place than are individuals who are unrelated to the proband. 先天性出生缺陷、心肌梗死、癌症、精神疾病、糖尿病和Alzheimer病等的发病率和死亡率相当高，约每3个人中即有2人患病。这些常见病由遗传因素与环境因素之间复杂的相互作用引起，故称为多因子（或复杂）遗传。患者亲属比普通个体可能更会出现与先证者类似的基因-基因和基因-环境相互作用，从而患相同的疾病。 The multifactorial inheritance pattern that results represents an interaction between the collective effect of the genotype at one or, more commonly, multiple loci (polygenic or multigenic effects) either to raise or to lower susceptibility to disease, combined with a variety of environmental exposures that may trigger, accelerate, exacerbate, or protect against the disease process. Gene-environment interactions, including systematic exposures or chance encounters with environmental factors in ones surroundings, add even more complexity to individual disease risk and the pattern of disease inheritance. 多基因病不仅取决于多个基因座的累加作用（多基因效应）导致的易感性，而且受环境因素的影响（激发、加速、加重或抑制作用）。基因-环境相互作用包括个体周围平常或偶然的环境因素作用，使得患病风险度和遗传方式更为复杂。 QUALITATIVE AND QUANTITATIVE TRAITS（质量性状和数量性状） We can divide the complex phenotypes of multifactorial disorders into two major categories: qualitative and quantitative traits. A genetic disease that is either present or absent is referred to as a discrete or qualitative trait; one has the disease or not. In contrast are quantitative traits, which are measurable physiological or biochemical quant