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1、ConstraintswithRespecttotheHDBeliefNetworkAfterthedependencygraphhasbeen,definedinthenextsteptheconstraintswithrespecttothecontentsoftheprobabilitytablehadtobespecified.Themainsourceforderivingtheconstraintswasthediseasefileitself,aswellasinformationgatheredfromameetingwithaHuntingtondiseas
2、eexpert.ThissectiondiscussestheproblemsinusingtheknowledgefromthesetwosourcestodesignGBBN33.(C0)“PriorofHuntingtondiseaseisbetween3/100000and7/100000.”InthefollowingHDrepresentstheeventofbecomingHD-phenotypicalinthelifetime.”0.00003
3、on’sCAG-repeatsarebelow35;thatimpliesthatifgenetictesting;r10_35isequivalenttotheeventoftestingnegativefortheHD-mutation.“ThefactthatHDisconstrainedalsoconstrainstheprobabilityforapositiveHD-mutation-test(1-r10_35),whoseprobabilityshouldbeslightlylargerbecauseofthepossibilityofpartialpenetr
4、ace”:(C1a)0.00003<=P(HD)<(1-r10_35)(C1b)(1-r10_35)<0.0001(higherthan0.00007becauseofpartialpenetrance)(C2)“Thereisnooccurrenceofthediseasewith10-35CAGrepeats”P(HD
5、r10_35)=0(C3)“ThereisareducedpenetranceofHDinthe36-41range”0.87
6、r36_41)<0.96(C4)“ThereisastrongpenetranceofHDinthehigherran
7、ges”0.96
8、42_47)
9、r48_120)<1.0(C5)Theconstraintslistedheredealwiththeimportanceofdifferentsymptomgroups,namelyChoreaandpsychiatricdisturbances,andabnormalitiesincognition.(C5a)“ChoreaisquitesuggestiveforHD”0.4>P(HD
10、Chorea)>0.1(C5b)“Psychiatricdisturbanceshavesomesignificancefordiagn
11、osingHD”P(HD
12、Psy_Dist)>0.01(C5c)“ChoreaissignificantlymoresuggestiveforHDdiseasethanpsychiatricdisturbances,andpsychiatricdisturbancesaresignificantlymoresuggestiveforHDthanabnormalitiesincognition.”(C5c1)P(Abn_Cog
13、notHD)>P(Psy_Dist
14、notHD)>P(Chorea
15、notHD)(C5c2)P(Chorea
16、HD)>P(Psy_Dist
17、HD)(C5
18、c3)P(HD
19、Chorea)>2.2*P(HD
20、Psy_Dist)(C5c4)P(HD
21、Psy_Dist)>3*P(HD
22、Abn_Cog)(C5d)“IndiagnosingHD,theevidenceofbothPsy_DistandAbn_Cogpresentisapprox.equivalenttotheevidenceofsolelyChoreabeingpresent(theproductofprobability-multipliersofPsy_DistandAbn_Cogarewith