文档介绍：Chapter 16 遗传性疾病的分子诊断
Molecular pathology represents the application of the principles of basic molecular biology to the investigation of human disease processes.
molecular pathology:分子病理学
Key Points
Gene mutation and/or ic polymorphism is a normal occurrence, usually without grave consequences, that contributes to those traits that establish our individuality.
ic polymorphism:基因多态性
According to numerous information available, ic diseases can be categorized into three major groups: chromosomal disorders, monogenic or single-gene disorders, and polygenic or multifactorial disorders.
chromosomal:染色体;monogenic/single-gene:单基因;polygenic/multifactorial多基因
Polygenic or multifactorial disorders result from multiple ic and/or ic factors that do not conform to traditional Mendelian inheritance pattens, which are different in monogenic disorders.
ic:后生的;Mendelian inheritance:孟德尔遗传;
The pathogenic nature of methylation is illustrated by the observation that for many tumor suppressor genes.
methylation:***化;pathogenic:病原的 Hybridization:杂交
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:血浆或血清
potentially:潜在地
DNA alterations have been detected in patients with small or even in situ lesions, indicating that tumor DNA is shed into circulation early in the disease.
alterations:改变,更改;in situ:在原来的位置;
lesion:机能障碍;
Our ever broadening insights into the molecular basis of disease processes continue to provide an opportunity for the clinical laboratory to develop and implement new and novel approaches for diagnosis, monitoring, drug resistance and prognostic assessment of human diseases.
Implement:实施;prognostic:预兆
复杂性疾病包括肿瘤(tumor)、心血管疾病(cardiovascular diseases)、自身免疫性疾病(autoimmune diseases)和一些代谢性疾病(metabolic diseases)等。