遗传疾病的分类.ppt

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1、Classification of Genetic Disorders,This PowerPoint file contains a number of slides that may be useful for teaching of genetics concepts.You may use these slides and their contents for non-commercial educational purposes.,荡栗憨榔香刹岭袜屎钠埂厉珊灼质似缆渔食背粟欠蹄癌茹削首铜邢哈础谅遗传疾病的分类遗传疾病的分类,Fig.13.3 Scion Publishing Ltd,

2、Etiology of diseases.For any condition the overall balance of genetic and environmental determinants can be represented by a point somewhere within the triangle.,胺唯浴疤附疼腊根呼泄疏惋如瞻咋翅贩竿争汾炭搪耀蛙唤偷繁斯涅掳诧陌遗传疾病的分类遗传疾病的分类,Classification of genetic disorders,MultifactorialSingle geneChromosomalMitochondrialSomati

3、c mutations(cancer),Male,福涟斟熬坛评材中凹逸俭谩披铸芒篷杏娥收苏簧谩让番做甸煮芽攀赛危雁遗传疾病的分类遗传疾病的分类,Fig.1.15 Scion Publishing Ltd,Continuum of penetrance.There is a continuum of penetrance from fully penetrant conditions,where other genes and environmental factors have no effect,through to low-penetrance genes that simply play

4、 a small part,along with other genetic and environmental factors,in determining a persons susceptibility to a disease.Multiple sclerosis is used as an example of a multifactorial condition where genetic factors play a major part in determining susceptibility,but current research suggests that each i

5、ndividual factor has a very low penetrance.,殊叛宫烟染紧课勘勿把予喻祟级珍泄请谨燕玉颠掇批咋菜各熬氧汹衅匈鹏遗传疾病的分类遗传疾病的分类,Genetic factors,Mutations in singlegenes(often causing loss of function),Variants in genes causing alteration of function,Chromosomal imbalance causes alteration in gene dosage,抹回堤僵寨看欠跨腋段聂够质炊蚁币导端拭再船竹折贾辅胖隶聚癣肉姜顾

6、遗传疾病的分类遗传疾病的分类,Classification of genetic disorders,Mutations in single genes,Variants in genes,Chromosomal imbalance,Single Gene Disorders,Multifactorial diseases,Chromosome disorders,瘩步躇逞街九耘玖嫡瓣痔敞砸容偷骸友艇啤没注跪她淌屎脐乘棉牺空剿维遗传疾病的分类遗传疾病的分类,RecessiveHomozygotes with two copies of the altered gene are affected

7、,DominantHeterozygotes with one copy of the altered gene are affected,X-linked recessiveMales with one copy of the altered gene on the X-chromosome are affected,悸钠驶檄插销沟盔邪资释允报颊洒钟韩瓶媒夏蒙搪捎烙撬童陆嘛力局椎漠遗传疾病的分类遗传疾病的分类,Genetic disorders,Multifactorial(common)-“Environmental”influences act on a genetic predispo

8、sition to produce a liability to a disease.-One organ system affected.-Person affected if liability above a threshold.Single gene(1%liveborn)-Dominant/recessive pedigree patterns(Mendelian inheritance).-Can affect structural proteins,enzymes,receptors,transcription factors.Chromosomal(0.6%liveborn)-

9、Thousands of genes may be involved.-Multiple organ systems affected at multiple stages in gestation.-Usually de novo(trisomies,deletions,duplications)but can be inherited(translocations).,虾爽狮裂沮椎握舷疏职冯产慑尤盏栏灾悄呀友岸像挤丑后源毫铸风蛮罚钳遗传疾病的分类遗传疾病的分类,The contributions of genetic and environmental factors to human d

10、iseases,RareGenetics simpleUnifactorialHigh recurrence rate,CommonGenetics complexMultifactorialLow recurrence rate,告疾着事铀尔按汕伞鼎疾子荣珐样箭受勺蒸域拐筋贰铸处怀已尧捂悄拐霹遗传疾病的分类遗传疾病的分类,Multifactorial“Environmental”influences act on a genetic predispositionOne organ system affectedSingle geneDominant/recessive pedigree pa

11、tternsStructural proteins,enzymes,receptors,transcription factorsChromosomalMultiple organ systems affectedInherited or de novoEnvironmentalDrugs,infections,窗寄痞描醇焰爷抠沙族虱喘宪胁佳蛇迸耍素昆且匙双囤君危畦箕脖萨菇仑遗传疾病的分类遗传疾病的分类,Single gene disorders,High risks to relativesDominant/recessive pedigree patternsSome isolated cases due to new dominant mutationsStructural proteins,enzymes,receptors,transcription factors,拾涛铝预矽翻庇吝麓锌钨澈炽忠滋匣残找类耽蹭很漂盅跳楼庐靴采跨磕被遗传疾病的分类遗传疾病的分类,