分子生物学技术在临床检验中的应用.课件.pptVIP

分子生物学技术在临床检验中的应用Molecular biology techniques in a clinical lab;;不同层次检验分析;致病有机体; 什么是分子生物学？ What does molecular biology mean?;Expression cloning Polymerase chain reaction (PCR) Gel electrophoresis Southern blotting Northern blotting Western blotting Sequencing Linkage anlysis Arrays Allele specific oligonucleotide Abandoned technology ;分子生物学技术字在临床检验中的应用;;;ARUP;遗传性疾病的类型; 3. Polygenic disease, Multifactorial disease (1) A. Major gene +other genes+other factors B. Many minor gene+other factors (2) Very important, including a lot of common diseases (3) Research methods Population genetics, STR linkage analysis, SNPs 4. Mitochondrial genic disease, mtDNA 5. Somatic cell genetics disease ;DNA 分子结构改变-基因突变;基因突变的类型;3. Condon mutation (Condon insertion or insertion) 4. Mispaired synapsis and unequal crossing-over -Fusion gene 5. Dynamic mutation ;疾病相关基因的检查;细胞遗传学（Cytogenetics）;Human male karyotype;A metaphase cell positive for the bcr/abl rearrangement using FISH;Interphase cells positive for a t(9;22) rearrangement;分子遗传学（Cytogenetics）;An important area within molecular genetics is the use of molecular information to determine the patterns if descent, and therefore the correct scientific classification of organisms: this is called molecular systematics. Along with determining the pattern of descendants, molecular genetics helps in understanding genetics mutations that can cause certain types of disease. Through utilizing the methods of genetics discovers the reseasons why traits are carried on and how and why some may mutate.;分子遗传学技术（ Techniques of molecular biology）;检查突变的方法;;Pharmacogenomics简介;疾病相关基因检查的质量控制;疾病相关基因检查的未来展望;遗传基因几乎与所有人类疾病相关;我国单基因疾病基因的检查现状与未来;涉及的病人多，更为复杂 基础研究刚刚起步，还有大量的工作要做 最终建立一个疾病的多基因检查模型