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医学遗传学双语练习(单基因遗传)
(此练习旨在帮助同学们了解英文题目)
Short-answerQuestions简答题(用中文答题)
DrawasimplepedigreeofthreegenerationsofafamilytoillustratethetransmissionofanX-linkedrecessivedisorder.(提示:注意XR遗传的特点)
List three differences between autosomal dominant inheritance and autosomal recessiveinheritance.(提示:对比两种遗传方式的特点)
StatethecharacteristicsofX-linkeddominantinheritance.
Explainwhatismeantbyincompleteinheritance,withexample.
Explainwhatismeantbyexpressivity,withexample.
(此练习旨在帮助同学们了解英文题目)
Analysisandcalculation 分析与计算(用中文答题)
Cathyispregnant(怀孕)forthesecondtime.Herfirstchild,Donald,hasCF(囊性纤维化).Cathyhastwobrothers,CharlesandColin,andasister,Cindy.ColinandCindyareunmarried.Charlesismarriedtoanunrelatedwoman,Carolyn,andhasa2-year-olddaughter,Debbie.Cathy’sparentsareBobandBetty.Betty’ssisterBarbaraisthemotherofCathy’shusband,Calvin,whois25.ThereisnopreviousfamilyhistoryofCF.
a.Drawthepedigree,usingstandardsymbols.
b.WhatisthepatternoftransmissionofCF,andwhatistheriskofCFforCathy’snextchild?
c.Whichpeopleinthispedigreeareobligateheterozygotes(杂合子)?
d.Whoistheprobandinthisfamily? Whatarethegenotypes(基因型)oftheprobandandhis/herparents?
ThefrequencyofTay-sachs(台萨斯)carrieris1/100inapopulation.
Acouplewithnormalphenotypeisunrelated.WhatistheriskofTay-sachsdiseaseforthechildrenofthiscouple?
Anormalmanismarriedtohisfirstcousin.WhatistheriskofTay-sachsdiseaseforthechildrenofthiscouple?
Apositivecarrier(肯定携带者)ofalbinism(白化病)marrieshisfirstcousin.Whatistheriskoftheirchildren?
Donandhismaternalgrandfather(外祖父)BarrybothhavehemophiliaA(血友病A).Don’spartnerDianeishismaternalaunt’sdaughter.DonandDianehaveoneson,Edward,andtwodaughters,EliseandEmily,allofwhomhavehemophiliaA.Theyalsohaveanunaffecteddaughter,Enid.
Drewthepedigree
WhyareEl
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