STR检测在产前检查中的应用课件.ppt

单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,STR,与遗传疾病的关系及其在产前检查中的应用,What Is STR?(1),STR:S,hort,T,andem,R,epeats,or,S,imple,T,andem,R,epeats,短（串）重复序列,或者,简单重复序列,别名：,minisatellite,DNA,or,microsatellite,DNA,即,微卫星,DNA,What Is STR?(2),重复单位长度：,250bp,重复次数：,几到几百，甚至上千,STR,是遗传基因的组成成分，普遍存在于真核生物和原核生物的基因组中，,STR,占人类基因中,DNA,总量的,5%,左右,(all,repe,a,titive DNA,50%,),真核细胞的基因结构,一个典型的真核细胞基因结构示意图,编码区含有,能够编码蛋白质的序列,(,外显子,),不能编码蛋白质的插入序列,(,内含子,),真核生物的结构基因是断裂基因,非编码区,非编码区,编码区,与,RNA,聚合酶结合位点,外显子,内含子,1,2,3,4,5,STRP(,多态性,),A short tandem repeat polymorphism(STRP)occurs when homologous STR loci,differ in the number of repeats,between individuals.,一种类型占种群比例,1%,算一种多态性，,300,164500,SCA17,TBP,CAG,ORF,2544,4566,607136,The repeat expansion diseases,（,2,）,Noncoding repeats,DM1,（,肌强直性营养不良,）,DMPK,CTG,3UTR,537,502000,160900,DM2,CNBP,CCTG,Intron 1,2000,309550,FRAXE MR,（,弗里德赖希共济失调,智力迟钝）,AFF2/FMR3,CCG,5end,625,200,309548,FRA12A MR,DIP2B,CGG,5UTR,623,?,136630,FRDA,FXN,GAA,Intron 1,722,66900,229300,SCA10,（,脊髓小脑性共济失调,）,ATXN10,ATTCT,Intron 9,1029,2804500,603516,Coding and noncoding repeats,SCA8,（,脊髓小脑性共济失调,）,ATXN8/ATXN8OS,CAG and CTG,ORF and NCT,637,107250,603680,Repeats with uncertain location,HDL-2,（,2,型类,亨廷顿病,）,JPH3,CAG/CTG,?,50,606438,SCA12,PPP2R2B,CAG/CTG,?,66,604326,The repeat expansion diseases,（,3,）,TRPs may also play a key role in,modu,-,lating disease susceptibility,for a range of common,polygenic disorders,includ,-,ing various,psychiatric,and,neurological disorders,.,STR&Genetic Diseases(6),D,epression,抑郁症,B,ipolar disorder,双相型障碍,S,chizophrenia,精神分裂症,A,ttentiondeficit hyperactivity disorder(ADHD),注意力缺陷多动障碍,Alzheimer,s disease,阿尔茨海默氏病,Stroke,中风,Cardiovascular disease,心血管疾病,D,iabetes,糖尿病,C,ancer,肿瘤,STR&Genetic Diseases(6),产前遗传缺陷的诊断,产前诊断,PND,Prenatal diagnosis,植入前遗传学诊断,PGD,Preimplantation genetic diagnosis,遗传病的分子检测方法,如何选择？,根据地域、人群特点,台大医院：甲,/,乙型海洋性贫血、脊髓性肌肉萎缩症（,SMA,）、,A/B,型血友病、成骨发育不全症、软骨发育不全症、结节性硬化、先天性中枢换气不足综合征、小胖威利与天使综合征等。,根据家族性遗传病史,根据实验室条件,适合,STR,检测的分子生物学方法,PCR,毛细管电泳（,Micro-CE),谢谢,谢谢,谢谢,