thinkings of medical genetics医学遗传学思考.pdfVIP

Thinkingsofmedicalgenetics

Chapter1~3

（Introduction，Genestructureandfunction，Monogenicdiseases）

1.Explaintheconcepts:

a.gene,b.allele,c.genomicimprinting,d.dynamicmutation,e.carrier,f.alleles,g.multiplealleles,

h.exon,i.intron

2.Multiple-choicequestions

a.19,20,21,22,23,24and25inpage180and181ofthetextbook

b.i.Foradiseasetobeconsideredageneticlethal,itmustcausethepatienttodiebeforehe/she

reachespuberty.

ii.Whenanindividualinheritsadisease-causingmutantgenefromaparent,thegeneispresentin

uteroandthereforeispresentatbirth;therefore,allhereditarydiseasesarecongenital.

iii.Wheneveranautosomaldominantdiseaseoccursinachildborntotwounaffectedparents,the

diseaseistheresultofanewmutation.

iv.Itisunlikelythataparenthasageneticdisorderifhe/sheistheonlyoneinthefamilywiththe

disease.

(Anwsers;i.False,ii.False,iii.False,iv.False)

3.Short-answerquestions

a.WhataretheMajortypesofgeneticdisease

b.7,8and15inpage184ofthetextbook

4.Essayquestions

a.Toanalysepedigreeasfollows:

.

i.Whatisthegeneticpatternofthispedigree?-ad

ii.Howmanyevidencesdoyouhavedemonstratedthispattern?

b.Toanalysepedigreeasfollows:

i.Whatisthegeneticpatternofthispedigree?-ar

ii.Howmanyevidencesdoyouhavedemonstratedthispattern?

c.Toanalysepedigreeasfollows:

i.Whatisthegeneticpatternofthispedigree?-xr

ii.Howmanyevidencesdoyouhave