BMSN2201LifeScienceII

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

A. antiMllerian hormoneonMllerian duct.

B. testosteroneonMllerian duct.
C. antiMllerian hormoneonWolffianduct.
D. testosteroneonWolffianduct.
E. placentaloestrogenonMllerian duct.

6
Question3
Whichofthefollowingdisordersaffectsthedevelopmentfemale
externalgenitaliaduringfoetal stage?

A. 5 alphareductasedeficiency
B. Androgeninsensitivitysyndrome
C. Congenitaladrenalhyperplasia
D. Klinefelters syndrome
E. Turnerssyndrome

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5 alphareductasedeficiency
testosterone
5 alphareductaseisanenzymethatconverts_____________into
5dihydrotestosterone(DHT)
______________________________,whichisessentialfor:
masculinization
1. _______________oftheexternalgenitalia Ambiguous/female
externalgenitalia
prostate
2. developmentofthe______________ Underdevelopedprostate

descend testis
3. ___________ofthe______________ Cryptorchidism

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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.

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 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

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Pregnancy,parturitionandlactation
Afterfertilization,thediploidzygoteundergoescleavagetoformmorula
blastocyst
andthen______________,whichisreadyforimplantation.

4cellstage
2cellstage Earlymorula

Compactmorula
Innercellmass
embryo
amnion
Trophoblasts
chorion
Human placenta
development

Blastocyst
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 Somematerialisexchangedacrossplacentalmembraneby
simplediffusion,butothermaterialmustbetransported

Umbilicalarteriesdeliver Chorionicvilli contain

embryonicbloodtoplacenta embryonicbloodvessels
Chorion
Umbilicalcord Maternalblood
Umbilicalvein bathesthe
carrieswell chorionicvilli
oxygenated
bloodtothe
embryo

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?

A. Relaxin Oestrogen Oxytocin

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_____________________

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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

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Foetalcirculatorybypasses

Ductus
Aorta venosus
Ductus
arteriosus

Foramen
ovale Umbilical Inferior
vein venacava

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https://en.wikipedia.org/wiki/Fetal_circulation#/media/
File:2916_Fetal_Circulatory_System02.jpg 22
 Schemeoffoetalcirculation
Pulmonarytrunk

Ductusarteriosus
Rightventricle
Pulmonaryveins

Rightatrium Foramenovale Leftatrium Leftventricle Aorta

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

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Q4.WhichofthefollowingbloodvesselshasthehighestPO2?
A. Aorta.
B. Ductusarteriosus
C. Ductusvenosus
D. Superiorvenacava

Q5.Afterbirth,thebypassesforthelungsandliverarenolonger
needed.Theductusarteriosusclosesandbecomes
A. ligamentumvenosum.
B. ligamentumarteriosum.
C. ligamentumteres.
D. fossaovalis.

Patentductusarteriosus
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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)

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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
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Genetics

28
Question1
WhichofthefollowingbasesisNOTfoundinDNA?

A. Adenine
B. Guanine
C. Cytosine
D. Thymine
E. Uracil

Adenine Guanine Cytosine Thymine 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
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 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
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Question3
Eachcodonconsistsof
______bases.

A. 2
B. 3
C. 4
D. 5

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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

Normal NormalmeiosisII Nondisjunction

meiosisII

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

Trait Afeatureof anorganism(e.g.height,eyecolour)

The observablecharacteristics(traits)ofanorganism(e.g.bluevs.brown
Phenotype
eyes)

Genotype Genetic makeupofanorganism(i.e.combinationofalleles)

Homozygous Anindividualthatcarriestwo copiesthesameallele

Heterozygous Anindividualthatcarriesonecopy ofeachofthedifferentallele

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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

Genotypeforbloodgp A: IAIA orIAi

Genotypeforbloodgp B: IBIB orIBi
Genotypeforbloodgp AB: IA IB
Genotypeforbloodgp O: ii
49