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Polygenic and miltufactorial disorders

机译:多基因和多因素疾病

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Many factors influence our susceptibility to disease. These include our stress load, our environment and the toxins we absorb from it, the total number of infectious agents we are exposed to as well as our underlying genetic susceptibility to these diseases. Multifactorial is the term given to the mode of transmission shown by a large number of diseases which show familial clustering but which is not in accord with any recognized pattern of single gene inheritance. These diseases include several common congenital malformations and acquired disorders of childhood and adult life. The underlying genetic mechanism is thought to involve interaction of relatively large numbers of genes - hence oligogenic or polygenic - with environmental factors. The ultimate cause of Alzheimer’s (AD) is unknown. Genetic factors are suspected, and dominant mutations in three different genes have been identified that account for a much smaller number of cases of familial, early -onset AD. For the more form of late onset AD, ApoE is the only repeatedly confirmed susceptibility gene. Coronary artery disease is well-recognized complication of several single-gene disorders involving lipid metabolism. Over 20 genes have been proposed as candidates for polygenic coronary artery disease. These include genes which control lipid metabolism, blood pressure, clotting, and fibrinolysis.
机译:许多因素影响我们对疾病的敏感性。这些包括我们的压力负荷,我们的环境和我们从中吸收的毒素,我们所接触的传染原总数以及我们对这些疾病的潜在遗传易感性。多因素是赋予大量疾病显示的传播模式的术语,这些疾病显示出家族聚集,但与任何公认的单基因遗传模式都不符。这些疾病包括几种常见的先天性畸形以及儿童和成年后代的获得性疾病。据认为,潜在的遗传机制涉及相对大量的基因与环境因素的相互作用,从而导致寡聚或多基因。阿尔茨海默氏病(AD)的最终病因尚不清楚。怀疑有遗传因素,并且已经鉴定出三种不同基因的显性突变,这些突变占家族性早发AD的病例少得多。对于晚期AD的更多形式,ApoE是唯一被反复证实的易感基因。冠状动脉疾病是几种涉及脂质代谢的单基因疾病的公认并发症。已经提出了超过20个基因作为多基因冠状动脉疾病的候选基因。这些包括控制脂质代谢,血压,凝血和纤维蛋白溶解的基因。

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