分子診斷學(xué)_復(fù)雜性疾病的分子診斷(完整版)
【正文】 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：?jiǎn)位颍?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 of methylated sequences in DNA derived from the plasma or serum by all kinds of sensitive techniques is a potentially important early detection and monitoring method for cancer. plasma or serum：血漿或血清 potentially：潛在地 7. DNA alterations have been detected in patients with small or even in situ le
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