分子診斷學(xué)_復(fù)雜性疾病的分子診斷(文件)
【正文】 ection 2 腫瘤的分子診斷 基因和蛋白質(zhì)水平改變，其發(fā)生發(fā)展存在一定的遺傳學(xué)基礎(chǔ)，以此作為腫瘤分子診斷的依據(jù) 一． 腫瘤的發(fā)病機(jī)制 1. 階梯式遺傳學(xué)疾病 2. 表觀遺傳學(xué)改變 Classical geics ?表觀遺傳學(xué) 研究不涉及 DNA序列改變的基因表達(dá)和調(diào)控的可遺傳變化的，或者說是研究從基因演繹為表型的過程和機(jī)制的一門新興的遺傳學(xué)分支。 。 自身免疫性疾?。?autoimmune diseases）：是指機(jī)體對自身抗原發(fā)生免疫反應(yīng)而導(dǎo)致自身組織損害所引起的疾病。 Chapter 16 遺傳性疾病的分子診斷 1. Molecular pathology represents the application of the principles of basic molecular biology to the investigation of human disease processes. molecular pathology：分子病理學(xué) Key Points 2. Gene mutation and/or geic polymorphism is a normal occurrence, usually without grave consequences, that contributes to those traits that establish our individuality. geic polymorphism：基因多態(tài)性 3. According to numerous information available, geic diseases can be categorized into three major groups: chromosomal disorders, monogenic or singlegene disorders, and polygenic or multifactorial disorders. chromosomal：染色體； monogenic/singlegene：單基因； polygenic/multifactorial多基因 4. Polygenic or multifactorial disorders result from multiple geic and/or epigeic factors that do not conform to traditional Mendelian inheritance pattens, which are different in monogenic disorders. epigeic：后生的； Mendelian inheritance：孟德爾遺傳； 5. The pathogenic nature of methylation is illustrated by the observation that for many tumor suppressor genes. methylation：甲基化； pathogenic：病原的 Hybridization：雜交 6. The detection o
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