分子诊断学 复杂性疾病的分子诊断课件.pptxVIP

Chapter 16 遗传性疾病的分子诊断;1. Molecular pathology represents the application of the principles of basic molecular biology to the investigation of human disease processes. molecular pathology：分子病理学;2. Gene mutation and/or genetic polymorphism is a normal occurrence, usually without grave consequences, that contributes to those traits that establish our individuality.;3. According to numerous information available, genetic 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;4. Polygenic or multifactorial disorders result from multiple genetic and/or epigenetic factors that do not conform to traditional Mendelian inheritance pattens, which are different in monogenic disorders. epigenetic：后生的；Mendelian inheritance：孟德尔遗传；;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：杂交;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.;7. 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；;8. 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。;肿瘤（tumor）：医学术语亦称恶性肿瘤（ malignant neoplasm），由控制细胞生长增殖机 制失常而引起的疾病。癌细胞除了生长失控外，还会局部侵入周遭正常组织甚至经由体内循环系统或淋巴系统转移到身体其他部分。分子生物学的研究已经发现2.5万