Académique Documents
Professionnel Documents
Culture Documents
Year2,5YearCurriculum
Tutorial4
Reproductivesystem(L2226)
&Genetics(L2729)
2016040708:3010:20
1
Sexdetermination
Humansexcanbedefinedat3levels:
Chromosomalsex
1._______________________________
homogametic
a.Female XX,allfemalegametescontainXch. (_________________)
heterogametic
b.Male XY,malegametescontaineitherXorYch. (______________)
Gonadalsex
2.________________________
a.Female Ovaries
b.Male Testes FunctionalSRY geneismandatory
c.Ovotestis
Phenotypesex
3.________________________
a.Female vulva,femalegenitalduct
b.Male penis,scrotum,malegenitalduct Testosteroneneeded
c.Ambiguousgenitalia
Sexualdifferentiationanddevelopment
Before6week(foetalage),male
andfemaleembryosare Bipotential gonad
indistinguishable
_______________________; Mllerian
Duct
theycontain
Bipotential gonads
1. __________________which
Wolffian
testes
canbecomeeither________ Duct
NoSRY
ovaries
or_______________ Notestosterone
SRY
Mllerian
2. ______________ductsthat NoAMH( AntiMllerian
Testosterone hormone)
becomethefemalegenital AMH
ducts(regressinmale)
Wolffian
3. ______________ductsthat
becomethemalegenital
ducts(regressinfemale)
http://www.ncbi.nlm.nih.gov/books/NBK27042/figure/uterinestemcells.F2/?report=objectonly 3
https://courses.washington.edu/conj/bess/differentiation/differentiation.htm 4
Question1
Whichofthefollowingstatementsregardingsexual
developmentofhumanfoetusisCORRECT?
theSRYgene
A. Thesexofanindividualisdeterminedbyasinglegeneon
theYchromosome.
B. Thesexofanindividualisdeterminedbyasetofgenesof
theXchromosome.
C. Thedevelopmentofthefoetalgonadintoovarydepends
onthepresenceofoestrogen.
D. Sexualdevelopmentofafoetuswillalwaysfollowthe
malepatterninthepresenceofaYchromosome.
notiftheSRYgeneis
missing/defective(veryrare)
5
Question2
Undernormalsituation,developmentofthemalegenitalducts
dependsontheeffectof
6
Question3
Whichofthefollowingdisordersaffectsthedevelopmentfemale
externalgenitaliaduringfoetal stage?
A. 5 alphareductasedeficiency
B. Androgeninsensitivitysyndrome
C. Congenitaladrenalhyperplasia
D. Klinefelters syndrome
E. Turnerssyndrome
7
5 alphareductasedeficiency
testosterone
5 alphareductaseisanenzymethatconverts_____________into
5dihydrotestosterone(DHT)
______________________________,whichisessentialfor:
masculinization
1. _______________oftheexternalgenitalia Ambiguous/female
externalgenitalia
prostate
2. developmentofthe______________ Underdevelopedprostate
descend testis
3. ___________ofthe______________ Cryptorchidism
8
Androgeninsensitivitysyndrome(AIS)
Androgeninsensitivitymeansthecellshavereducedresponsiveness
towardsandrogens.Itisaresultofmutationofthe
androgenreceptorgene
__________________________thatmakethereceptordefective.
Androgensareessentialfor:
Wolffianduct
1. _______________development
masculinization
2. _______________oftheexternalgenitalia
PartialAIS
CompleteAIS
*Symptomdependsonhow
defectivethereceptoris
9
Congenitaladrenalhyperplasia
Congenitaladrenalhyperplasiaismostcommonlyduetodeficiency
in21hydroxylase,whichisanenzymeneededforthesynthesisof
cortisoland/oraldosterone
__________________________intheadrenalgland.Deficiencyin
thisenzymeresultsinexcessiveproductionof__________________
androgens
bytheadrenalgland,leadingtovirilization oftheexternalgenitalia
female
ofa__________foetus.
10
Desmolase 17 Hydroxylase C17,C20Lyase
Cholesterol DHEA
3 hydroxysteroid 3HSD 3HSD
dehydrogenase
(3HSD)
Androstenedione
X 21hydroxylase X 21hydroxylase Peripheraltissues
Testosterone
11 hydroxylase 11 hydroxylase
Cortisol
18hydroxylase
18oxidase
Aldosterone
11
Question3
Whichofthefollowingdisordersaffectthedevelopmentfemale
externalgenitaliaduringfoetal stage?
A. 5 alphareductasedeficiency
B. Androgeninsensitivitysyndrome
C. Congenitaladrenalhyperplasia
D. Klinefelters syndrome XXYmale
E. Turnerssyndrome XOfemale
12
Pregnancy,parturitionandlactation
Afterfertilization,thediploidzygoteundergoescleavagetoformmorula
blastocyst
andthen______________,whichisreadyforimplantation.
4cellstage
2cellstage Earlymorula
Compactmorula
Innercellmass
embryo
amnion
Trophoblasts
chorion
Human placenta
development
Blastocyst
13
Somematerialisexchangedacrossplacentalmembraneby
simplediffusion,butothermaterialmustbetransported
Amnion
Maternal
blood
vessels
http://www.colorado.edu/intphys/Class/IPHY3430200/024reproduction.htm 14
Question1
cytotrophoblast
Whichofthefollowinghormonesissecretedbysyncytiotrophoblast
duringearlypregnancy?
FunctionssimilartoGH,
A. Oestrogen inducesinsulinresistance
B. Progesterone gestationaldiabetes
C. Placentallactogen
D. Gonadotrophinreleasinghormone
E. Humanchorionicgonadotropin
formaintainingcorpusluteum
asmarkerforpregnancytest
http://www.colorado.edu/intphys/Class/IPHY3430200/image/2626.jpg 15
Question2
Whichofthefollowinghormonesplaysthegreatestroleinstimulating
uterinecontractionduringlabour?
B. Oxytocin fromfoetus
andmothers
posteriorpituitary
C. Prolactin
D. Oestrogen
Induceoxytocin
E. Progesterone receptorsonuterus
Stimulatesuterine
contractions
Stimulatesplacenta
tosynthesize
Prostaglandins
Labourinduction
withprostaglandins
Morevigorous
uterinecontraction
http://bmc1.utm.utoronto.ca/~amanda/visualtoolssite/postdates_options/induction.html 17
Question3
Duringpregnancy:
A. progesteronealonestimulatesthedevelopmentoftheduct
systemofthemammarygland. oestrogen,GH&adrenalsteroids
B. oestrogenalonestimulatesthedevelopmentofthelobuloalveolar
systemofthemammarygland. E,P,prolactin,GH&adrenalsteroids
C. progesteroneinhibitsmilkproductionbythemammarygland.
D. prolactinstimulatesmilkproductionbythemammarygland.
http://www.intechopen.com/books/autophagyadoubleedgedswordcellsurvival
ordeath/autophagyindevelopmentandremodellingofmammarygland1 18
Question4
The2majorhormoneinvolvedinlactationare
prolactin
1. _______________,whichstimulates
alveolar
the_____________cellsinthe
mammaryglandtoproducemilk
oxytocin
2. _______________,whichstimulates
myoepithelial
contractionof______________cellsin
themammaryglandforejectionofmilk
Thesecretionofbothhormonesisstimulated
sucklingonthenipple
by_____________________
19
NeonatalCirculatorysystem
Q1.Whatarethefeaturesofthefoetalcirculatorysystem?
1. high
_______heartrate&cardiacoutput
2. higher
_________Hb concentrationinfoetalRBC helpmaintainsufficientO2
deliverydespitelowPO2
3. FoetalHb (22)has________O
higher 2affinity
4. Bohreffect
______________@placentafacilitateO 2 unloadingbymaternalHbA
5. increases
O2 affinityofHbF ____________asCO 2 diffusesout
6. Threestructuresthatshuntblood
lungs liver
awayfromfoetal________and________ HbF
HbA
foramenovale
a. ______________________
ductusarteriosus
b. ______________________
ductusvenosus
c. ______________________
Bohreffect
20
Foetalcirculatorybypasses
Ductus
Aorta venosus
Ductus
arteriosus
Foramen
ovale Umbilical Inferior
vein venacava
21
https://en.wikipedia.org/wiki/Fetal_circulation#/media/
File:2916_Fetal_Circulatory_System02.jpg 22
Schemeoffoetalcirculation
Pulmonarytrunk
Ductusarteriosus
Rightventricle
Pulmonaryveins
Inferiorvenacava
Systemiccirculation
Ductusvenosus
Umbilicalarteries
Umbilicalvein
https://www.pinterest.com/pin/34480753371879946/ 23
Q2.Oxygenatedbloodtravelsfromplacentatothefoetus through
A. umbilicalvein.
B. umbilicalarteries.
C. ductusarteriosus.
D. superiorvenacava.
E. aorta.
Q3.Inthefoetus,oxygenatedbloodfromtheplacentafirstenters
whichchamberoftheheart?
A. Leftatrium
B. Leftventricle
C. Rightatrium
D. Rightventricle
24
Q4.WhichofthefollowingbloodvesselshasthehighestPO2?
A. Aorta.
B. Ductusarteriosus
C. Ductusvenosus
D. Superiorvenacava
Q5.Afterbirth,thebypassesforthelungsandliverarenolonger
needed.Theductusarteriosusclosesandbecomes
A. ligamentumvenosum.
B. ligamentumarteriosum.
C. ligamentumteres.
D. fossaovalis.
Patentductusarteriosus
25
Maleinfertility
1. Spermproduction,qualityandquantity(testicularfunction)
a. endocrinedisorders
GnRH,FSH,LHandtestosterone
b. temperature(e.g.cryptorchidism,prolongedhotbath)
c. testiculardiseases(e.g.varicocele,cancer)
d. BMI(increasedincidenceofazoospermia&oligozoospermia withhighBMI)
2. Passageofspermsoutofthebody
a. obstructionofpassageway(congenital/secondarytootherconditions)
b. erectiledysfunction(e.g.chronicillness,psychological)
c. ejaculationproblems(e.g.premature/retrogradeejaculation,anejaculation)
26
Femaleinfertility
1. Problemwithovarianfunction
a. endocrineproblems(hypothalamus,anteriorpituitaryproblems)
b. diseases/conditionsthataffectovarianfunctions(e.g.polycysticovarysyndrome)
c. results=aovulation (noovulation)
2. Tuboperitoneal problem(duetoendometriosis,pelvicinflammatorydisease,
abdominalsurgery)
a. blockageoffallopiantube
b. pelvicadhesion
3. Uterineproblem
a. endometrialproblem(toothin) hormonal
b. congenitalproblemoftheuterus
Overalleffects
4. Cervicalproblem 1.Nofertilization
2.Problemswithimplantation
cervicalmucusconsistency
3.Problemswithmaintainingpregnancy
5. Oocytequality(decreasewithage)
affectsearlyembryosurvival,establishmentandmaintenanceofpregnancy
27
Genetics
28
Question1
WhichofthefollowingbasesisNOTfoundinDNA?
A. Adenine
B. Guanine
C. Cytosine
D. Thymine
E. Uracil
29
Question2
doublehelical
DNAmoleculesassume_______________structure.The2strandsof
antiparallel
DNAmoleculesarealignedin_________________fashion,with
sugarphosphate bases
_______________backboneontheoutsideandthe_________onthe
inside.
The2DNAstrandsareheldtogetherthrough____________bonds
betweenthebases.Aalwayspairwith__andGalwayspairwith__.
Thisiscalled________________________________.
5 3
A T
G C
G C
C G
T A
T A
A T
G C
C G
3 5
30
Formationofphosphodiester bond
5endhasafreephosphategroup(onC5)
H2O
3endhasafreeOHgroup(onC3)
http://meddic.jp/phosphodiester_bond 31
Question2
doublehelical
DNAmoleculesassume_______________structure.The2strandsof
antiparallel
DNAmoleculesarealignedin_________________fashion,with
sugarphosphate bases
_______________backboneontheoutsideandthe_________onthe
inside.
hydrogen
The2DNAstrandsareheldtogetherthrough____________bonds
T C
betweenthebases.Aalwayspairwith__andGalwayspairwith__.
complementarybaseparing
Thisiscalled________________________________.
5 3
A T
G C T A
G C
C G
T A
T A
A T
G C C G
C G
3 5
32
Question3
Eachcodonconsistsof
______bases.
A. 2
B. 3
C. 4
D. 5
33
Question4
Translationreferstotheprocessof
A. DNAsynthesisfromaDNAtemplate. DNAReplication
B. RNAsynthesisfromaDNAtemplate. Transcription
C. DNAsynthesisfromanRNAtemplate. Reversetranscription
D. proteinsynthesisfromaDNAtemplate.
E. proteinsynthesisfromanRNAtemplate. mRNA
34
Question5
WhichofthefollowingtypesofRNAcarriesaminoacidstothe
ribosomeduringtranslation?
A. MessengerRNA Aminoacid
B. RibosomalRNA
C. TransferRNA
D. MicroRNA
E. SmallinterferingRNA
Anticodon
Translation
https://www.youtube.com/watch?v=zb6r1MMTkc 35
RibosomeisacomplexofproteinsandrRNA
http://serc.carleton.edu/microbelife/research_methods/genomics/ribosome.html 36
Question6
WhichofthefollowingchangestoaDNAsequencewouldNOT produce
frameshiftmutation?
A. Insertionof1basetotheDNAsequence
B. Insertionof2basestotheDNAsequence
C. Deletionof2basestotheDNAsequence
D. Deletionof3bases
E. SubstitutionofabaseintheDNAsequencebyanotherbase
TAT TCT AGT ACA T Tyr Ser Ser Thr ?
Deletion
TAT TGG CTA GTA CAT Tyr Trp Leu Val His
Insertion
TAT TCG GCT AGT ACA T Tyr Ser Ala Ser Thr
Substitution
TAT TGG CAA GTA CAT Tyr Trp Gln Val His
37
Question7
Whichofthefollowingabnormalitiesmightoccurduring
anaphaseIofmeiosis?
A. Nondisjunctionofsisterchromatids
B. Nondisjunctionofhomologouschromosomes
C. Deletionofpartofachromosome
D. Duplicationofpartofchromosome
MeiosisI
MeiosisII
38
aneuploidy
Nondisjunctionofchromosomesleadsto______________
e.g. Downsyndrome(Trisomy21)
Turnersyndrome(44,XO)
Klinefelter syndrome(44.XXY)
Nondisjunction Normal
meiosisI
http://www.mhhe.com/biosci/genbio/maderbiology7/student/olc/chap13outline.mhtml 39
Question7
Whichofthefollowingabnormalitiesmightoccurduring
anaphaseIofmeiosis?
A. Nondisjunctionofsisterchromatids
B. Nondisjunctionofhomologouschromosomes
C. Deletionofpartofachromosome
ProphaseI Pairingupof
D. Duplicationofpartofchromosome homologues
chromosomes
Crossingover
Unequalcrossingover
40
Typesofinheritance
1. Autosomaldominant
:inheritanceofautosomaldominantgenes
:1alleleisenoughfortheexpressionofaparticularphenotype
e.g.earlobe,Huntingtondisease,VonWillebrand disease
2. Autosomalrecessive
:2allelesrequiredfortheexpressionofaparticularphenotype
:e.g.albinism,cysticfibrosis
3. Xlinkeddominant
:inheritanceofXlinkeddominantgenes(onXchromosome)
4. Xlinkedrecessive
5. Ylinkedinheritance
6. Codominance
:theallelesareequallystrong
41
Basictermsingenetics
Term Definition
Allele Alternativeversionsofagene
Dominant Anallelethatdeterminesthephenotypeofanorganismwhenpairedwith
allele adifferent(recessive)allele
The observablecharacteristics(traits)ofanorganism(e.g.bluevs.brown
Phenotype
eyes)
42
Question1
Huntingtonsdiseaseisarareautosomaldominantdiseasethatcauses
abnormalinvoluntarywrithingmovementscalledchorea.Marywas
diagnosedwithHuntingtondisease.WhatisthechanceforMarysunborn
childtohaveHuntingtondisease?
A. 0%
Marysgenotype:Hh (heterozygous)
B. 25% Husbandsgenotype:hh (homozygousrecessive)
C. 50%
D. 100% Mother(Mary)
H h
H:dominantdiseaseallele
h Hh hh
Father
h:normalrecessiveallele
h Hh hh
chorea
43
Question2
Acouple,bothhavingnormalskincolour,haveasonwhohasalbinism.
Thiscanbeconcludedthatalbinismfollows______________________
inheritancepattern.
Autosomalrecessive:
Bothparentareheterozygous(Aa)
XA. autosomaldominant
Mother
B. autosomalrecessive
A a
XC. Xlinkeddominant
A AA Aa
Father
D. Xlinkedrecessive
a Aa aa
E. Cannotbeconcluded
Mother
Xlinkedrecessive: XA Xa
Normalfather:XAY
XA XAXA XAXa
Father
Carriermother:XAXa
Y XAY XaY
44
Moreinformationisneeded.
Bothpedigreesshowrecessiveinheritance
Whichofthemisautosomalrecessive?
Maleandfemale areequallyaffected
autosomalrecessive
Mainlymales areaffected
Xlinedrecessive
http://www.cubocube.com/dashboard.php?a=1183&b=1269&c=103 45
Question3
Maletomaleinheritancecanbeobservedinwhichofthefollowing
patternsofinheritance?
Bothdaughtersandsoncanreceivestheaffected
A. autosomaldominantautosomaldominantallelefromfather
X
B. autosomalrecessive
X
C. Xlinkeddominant X chromosomepassesfrom
D. Xlinkedrecessive fathertodaughter butnotson
X
E. Ylinkedinheritance SonsreceiveY chromosomefromfather
46
Question4
Whichofthefollowingis/areTRUEaboutXlinkedrecessivedisease?
A. Anaffectedfatherwillneverproduceanaffectedsons.
B. Alldaughtersofanaffectedfatherwillbeaffected. carrier
All
C. Halfofthesonsofanaffectedfemalewillbeaaffected.
D. Maternalageisafactorinpassingtheabnormalgenetotheoffspring.
Higherrateofchromosomal abnormalitieswithaging
morechildwithgeneticdisorderborntomother>35ofage
Mother
Xa Xa
Normalfather:XAY
XA XAXa XAXa
Father
Affectedmother:XaXa Alldaughtersarecarrier
Y XaY XaY Allsonsareaffected
47
Question5
AfatherwithHuntersyndromehastwodaughterswhoareallcarrierof
thediseasealleleandasonwhoisunaffected.Thetwodaughtershave
threesonsofwhichtwoareaffectedandoneisnot,andthreedaughters
ofwhichoneiscarrierandtwoarenot.Itcanbeconcludedthatthe
Huntersyndromeshows
X
A. autosomaldominantinheritance.
B. autosomalrecessiveinheritance.
X
C. Xlinkeddominantinheritance.
D. Xlinkedrecessiveinheritance.
48
Question6
AmotherwithtypeABbloodhasachildwhoalsohastypeAB
blood.ApotentialfatherhasbloodtypeO.Itcanbeconcludedthat
A. hecannotbethefather.
B. hemightbethefather,butunlikely.
C. heisverylikelytobethefather.
D. heoranyothermaleofbloodtypeOcouldbethefather.
AlleleforAantigen: IA
codominant
AlleleforBantigen: IB
AlleleforHantigen: i recessive