[05] Genetic Disorders with Complex Inheritance

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1、GeneticsofComplexTraitsandDiseasesZHANGXian-Ning,PhDzhangxianning@zju.edu.cnTel：13105819271;88208367Office:C303,TeachingBuilding2016/03AnydiseaseistheresultofthecombinedactionofgenesandenvironmentClassificationofgeneticdisorders:1.Chromosomedisorders:2.Single-gene

2、disorders:3.Complex(multifactorial,polygenic)disorders:4.Somaticcellgeneticdisorders:5.Mitochondrialgeneticdisorders:•ABObloodgroupdepends(withrareexceptions)onthegenotypeatjustonelocus,theABOlocusatchromosome9q34.Rhesushemolyticdiseaseofthenewborndependsonthegeno

3、typesofmotherandbabyattheRHDlocusatchromosome1p36,butalsoonmotherandbaby'sbeingABOcompatible.Hirschsprungdiseasedependsontheinteractionofseveralgeneticloci.Adultstatureisdeterminedbythecumulativesmalleffectsofmanyloci.Environmentalfactorsarealsoimportantintheetiol

4、ogyofRhesushemolyticdisease,Hirschsprungdisease,andadultheightGeneticSusceptibility•Aninheritedpredispositiontoadiseaseordisorderwhichisnotduetoasingle-genecauseandisusuallytheresultofacomplexinteractionoftheeffectsofmultipledifferentgenes,i.e.polygenicinheritance

5、Liability•Aconceptusedindisorderswhicharemultifactoriallydeterminedtotakeintoaccountallpossiblecausativefactors←→susceptibilityfactor:Avariantthatprovidesincreasedriskofdevelopingaspecificdisease•Trait:Anydetectablephenotypicpropertyorcharacter•Qualitativetrait:Ag

6、eneticdiseasetraitthateitherpresentorabsent.Thepatternofinheritanceforaqualitativetraitistypicallymonogenetic,whichmeansthatthetraitisonlyinfluencedbyasinglegene•Quantitativetrait:aremeasurablecharacteristicssuchasheight,bloodpressure,serumcholesterol,andbodymassi

7、ndex.AquantitativetraitshowscontinuedvariationundertheinfluenceofmanydifferentgenesQuantitativetrait:Normaldistribution•Height•Weight•Shape•Color•Bloodpressure•metabolicactivity•reproductiveratePolygenes:small-but-equaleffectQTL(quantitativetraitloci)SuccessiveApp

8、roximationstoaGaussianDistribution:QTLthresholdFamilialaggregation:Affectedindividualstendtoclusterinfamilies.prevalenceofthediseaseintherelativesofanaf