肌营养不良症DMD基因检测PPT课件.pptVIP

.-*k*实验四进行性肌营养不良症（DMD)基因检测进行性肌营养不良症(Duchennemusculardystrophy,DMD)是肌肉组织的遗传病,特点是进行性加重的肌肉萎缩和无力。本病呈X连锁隐性遗传,一般男性儿童发病。*GeneticsofDMDOMIM#310200occurringinabout1in3500males,X-linkedrecessive,lethalinmales,1/3ofpatientsarenewmutants;2/3havecarriermothers,GenelocationXp21,largegene(morethan2000kb),79exons.Highmutationrate,60%to65%ofthemutationsaredeletions,andabout6%areduplications,Allelicmutationsinthesamegenecauseamilderdisorder,Beckermusculardystrophy.**DuchenneMuscularDystrophy,DMD*DMD基因定位于Xq