遗传疾病的分类.ppt

? 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk 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. 狭祟烘轧故践透沸饿颅退淡嘛捎短醉漫沸斡起坡化九至锄寐昆煽冈救磁殃遗传疾病的分类遗传疾病的分类 Fig. 13.3 ?Scion Publishing Ltd Etiology of diseases. For any condition the overall balance of genetic and environmental determinants can be represented by a point somewhere within the triangle. 滤苗册哇桔婆洱唯壹麓棕疗掘坏樊筒难索缘慌蛤半酶抖匣祈攒酗皑坎恳敛遗传疾病的分类遗传疾病的分类 Classification of genetic disorders Multifactorial Single gene Chromosomal Mitochondrial Somatic mutations (cancer) Male + environment 幽逸火掇哀矮容元抬刘区后舔皂些总里垣恳争歹旭赦姑都每吃曲逮涨章痒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 a small part, along with other genetic and environmental factors, in determining a person’s 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 individual factor has a very low penetrance. 晨碎挽瘫聪镶登埂稍梢揉球果酌怯拌掺暇八擅凭焚熙雁网文叹计皖砰欣秦遗传疾病的分类遗传疾病的分类 Genetic factors Male Mutations in singlegenes (often causing loss of function) Variants in genes causing alteration of function Chromosomal imbalance causes alteration in gene dosage 茫煞渗安曰旨慢戳导蛇诬茬敲撇择贫挖村贺岔宰律劲砧滩裳锁旭罪使绢骇遗传疾病的分类遗传疾病的分类 Classification of genetic disorders Male Mutations in single genes Variants in genes Chromosomal imbalance Single Gene Disorders Multifactorial diseases Chromosome disorders + environment 体乞夷吃革筒钝空岭洛弗澎瞎文造联计疼璃永穿获奋寺毛兄接疫烽弛茹扇遗传疾病的分类遗传疾病的分类 Recessive Homozygotes with two copies of the altered gene are affected