遗传学试题资料：Monogenic disorders.doc

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1、1. Onecharacteristicofamutationisthatitis(4.0分)A.AlmostanimprovementB.GeneticallytransmittedtofuturegenerationsC.AlwaysadominantcharacteristicD.Preventedbyusingcolchicine2.  Contrastinggenesatthesamelocusarecalled (4.0分)A.HomologusB.AllelesC.AlliesD.DifactorsE.Assoc

2、iates（等位基因）3. 某人的父亲为Huntington舞蹈病患者，他现已30岁还未发病，如果30岁时此病的外显率为30%，则他将来发病的可能性为（）。(4.0分)A.0%B.15%C.35%D.100%E.30%(患者的子代有1/2的概率患病，0.5*0.3=0.15，P78)4.Susanhadretinoblastomaasachild.Her1year-olddaughterCindyhasjustbeenfoundtohavethesameautosomaldominantcondition.Susanispre

3、gnantandconcernedthatthenewbabywillalsohaveretinoblastoma.Giventhatthepenetranceofmutationsinthecausativegene,RB,is90%,whatistheriskthatthebabywillhavethiscancer?  (4.0分)A.1%B.10%C.45%D.50%E.90%5. A34-year-oldwomanpresentstotheemergencyroomwithburning,stabbing,epiga

4、stricabdominalpain.Shereportsnauseaandvomitingoverthepast24hoursandstatesthatshethinksthatshemaybepregnant.Urinalysisispositiveforketones,WBCs,RBCs,andbacteria.Pregnancytestispositive.AnabdominalCTrevealsthrombosesinthesplenic,superiormesenteric,andleftrenalandporta

5、lveins.FurthertestingrevealsafactorVLeidenmutationinoneallele.Thereisnofamilyhistoryofthrombosisdisordersinherfamilyorherhusband’sfamily.Furtheranalysisrevealsamutationinthemother’sfactorVLeidengene;thefatherdoesnothavethemutation.Thepatientisconcernedaboutherpregna

6、ncyinlightofthesefindings.WhatistheprobabilityherchildwillbeaffectedbyfactorVLeidenthrombophila? (4.0分)A.Virtually0%B.25%C.50%D.75%E.100%（中英文版P160）6. 多指症为常染色体显性遗传病，如果其外显率为60%，两个杂合型患者婚后所生子女表型正常的概率为（）。 (4.0分)A.30%B.20%C.55%D.50%E.15%（1/2*0.4+0.25=0.45）7. Huntington舞蹈病

7、患者重复扩增的三联体是（）。 (4.0分)P79A.CAGB.GCGC.CTGD.GAAE.CGG8. 父亲为A血型，母亲为B血型，生育了1个B血型的孩子，如再生育，孩子可能的血型为（）。 (4.0分)A.A和BB.B和ABC.A、B和ABD.A和ABE.A、B、AB和O9. 一个男孩是甲型血友病（XR）的患者，其父母和祖父母均正常，其亲属中不可能患此病的人是（） (4.0分)A.外祖父或舅父B.姨表兄弟C.姑姑D.同胞兄弟10. Yourpatientisa5-year-oldgirlwhoappearstohaveDuch

8、ennemusculardystrophy.Whatisthemostlikelygeneticexplanationforthisdiseaseinagirl? (4.0分)A.Shehasa46,XYkaryotypewithsexreversal.B.Shehasske