基因诊断PPT.ppt

基因诊断;疾病的诊断依据;Opening Ceremony of the 2008 Beijing Paralympics on Sep 6th,2008;We are different;*;英国同卵双胞胎命运迥然不同;相同的基因型;表观遗传学的研究内容概 　述;主要内容;基因诊断的定义; 意义 逆向诊断（reverse diagnosis）: 和传统的诊断方法主要差异在于直接从基因型推断表型，即可以越过产物（酶和蛋白质）直接检测基因结构而作出诊断，这样就改变了传统的表型诊断方式，故基因诊断又称为逆向诊断（reverse diagnosis） 。 症状前诊断 预测疾病的易感者和检测携带者 产前诊断;基因变异致病的类型; 基因突变对表型的影响大致上通过以下两种主要途径而实现： （一）影响其产物组成或结构 （二）影响其表达的量;(一)基因突变改变表达产物组成和结构; ????????????????????????????????????????????????????????;*; 移码突变（frame-shift mutation）： 当基因核苷酸序列插入或丢失1个、2个或不构成三联体密码或其倍数的多个碱基后，在插入或丢失部位后面的三联体密码会发生移码，造成其表达的多肽链截短或延长，从而丧失或大大减弱正常多肽链的功能。 ;;染色体易位 （Translocation） ;Abnornal Processing of the β Globin primary RNA Transcript; 有不少疾病基因本身并无突变发生，但调控疾病基因的基因发生了突变，这些突变可以发挥正调控作用，也可以发挥负调控作用，其产物通过改变疾病基因的表达程度而引起相应表型的改变。 如某些酶基因表达缺失或过量引起的遗传性疾病就是这种情况。 ;Blood samples - the most widely used source of DNA from adults. Mouthwashes or buccal scrapes - being noninvasive, they are especially favored for population screening programs. Mouthwashes yield sufficient DNA for a few dozen tests, and by using whole genome amplification more extensive testing of a single sample may be possible. Chorionic villus biopsy samples - the best source of fetal DNA (better than amniocentesis specimens). One or two cells removed from eight-cell stage embryos, for pre-implantation diagnosis after in vitro fertilization. Hair, semen, etc. for criminal investigations. Archived pathological specimens, for typing dead people when no DNA has been stored, or testing tumors for genetic changes. Only short sequences, 250 bp or less, can be reliably amplified from fixed tissue specimens. Guthrie cards - these are the cards on which a spot of dried blood is sent to a laboratory for neonatal screening for phenylketonuria (PKU) in the UK and elsewhere; not all the blood spot is used for the screening test. They are a possible source of DNA from a dead child.;基因诊断的特点;Methods and techniques used in genetic testing基因诊断的方法和技术;;Polymerase Chain Reaction (PCR) ;PCR;in situ PCR