BMSN2201LifeScienceII

Year2,5YearCurriculum
Tutorial4
Reproductivesystem(L2226)
&Genetics(L2729)

2016040708:3010:20

1
Sexdetermination
Humansexcanbedefinedat3levels:
1._______________________________
a.Female XX,allfemalegametescontainsXch. (_________________)
b.Male XY,malegametescontainseitherXorYch. (______________)

2.________________________
a.Female Ovaries
b.Male Testes
c.Ovotestis

3.________________________
a.Female vulva,femalegenitalduct
b.Male penis,scrotum,malegenitalduct
c.Ambiguousgenitalia
 Sexualdifferentiationanddevelopment
Before6week(foetalage),male
andfemaleembryosare Bipotential gonad
_______________________; Mllerian
Duct
containing
1. __________________which
Wolffian
canbecomeeither________ Duct
NoSRY
or_______________ Notestosterone
SRY
2. ______________ductsthat NoAMH( AntiMllarian
Testosterone hormone)
becomesthefemalegenital AMH
ducts(regressinmale)
3. ______________ductsthat
becomesthemalegenital
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?

A. Thesexofanindividualisdeterminedbyasinglegeneon
theYchromosome.
B. Thesexofanindividualisdeterminedbyasetofgenesof
theXchromosome.
C. Thedevelopmentofthefoetalgonadintoovarydepends
onthepresenceofoestrogen.
D. Sexualdevelopmentofafoetuswillalwaysfollowthe
malepatterninthepresenceofaYchromosome.

5
Question2
Undernormalsituation,developmentofthemalegenitalducts
dependsontheeffectof

A. antiMllerian hormoneonMllerian duct.

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

6
Question3
Whichofthefollowingdisordersaffectthedevelopmentfemale
externalgenitaliaduringfoetal stage?
A. 5 alphareductasedeficiency
B. Androgeninsensitivitysyndrome
C. Congenitaladrenalhyperplasia
D. Klinefelters syndrome
E. Turnerssyndrome

7
5 alphareductasedeficiency
5 alphareductaseisanenzymethatconverts _____________into
______________________________,whichisessentialfor:

1. _______________oftheexternalgenitalia

2. developmentofthe_______________

3. ___________ofthe______________

8
Androgeninsensitivitysyndrome(AIS)
Androgeninsensitivitymeansthecellshavereducedresponsiveness
tothepresenceofandrogen.Itisaresultofmutationofthe
__________________________thatmakethereceptordefective.
Asandrogensarerequiredforthedevelopmentofessentialfor:

1. _______________development

2. _______________oftheexternalgenitalia

*Symptomdependsonhow
defectivethereceptoris

9
Congenitaladrenalhyperplasia
Congenitaladrenalhyperplasiaismostcommonlyduetoadeficiency
in21hydroxylase,whichisanenzymeneededforthesynthesisof
__________________________intheadrenalgland.Deficiencyin
thisenzymeresultsinexcessiveproductionof__________________
bytheadrenalgland,leadingtovirilization oftheexternalgenitalia
ofa__________foetus.

10
 Desmolase 17 Hydroxylase C17,C20Lyase
Cholesterol DHEA
3 hydroxysteroid 3 HSD 3 HSD
dehydrogenase
(3 HSD)
Androstenedione
X 21hydroxylase X 21hydroxylase Peripheraltissues
Testosterone
11 hydroxylase 11 hydroxylase

Cortisol
18hydroxylase

18oxidase

Aldosterone
 Pregnancy,parturitionandlactation
Afterfertilization,thediploidzygoteundergoescleavagetoformmorula
blastocyst
andthen______________,whichisreadyforimplantation.

4cellstage
2cellstage Earlymorula

Compactmorula
Inner cell mass
_____________
embryo
amnion
Trophoblasts
_____________
chorion
Human placenta
development

Blastocyst
https://www.youtube.com/watch?v=8d1IGG5BlI 12
 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 13
 Question1
Whichofthefollowinghormonesissecretedbysyncytiotrophoblast
duringearlypregnancy?
GH
Functionssimilarto_____,
A. Oestrogen insulin resistance
induces________________
by corpus luteum gestational diabetes
____________________
B. Progesterone
C. Placentallactogen
D. Gonadotrophinreleasinghormone
E. Humanchorionicgonadotropin
formaintainingcorpusluteum
asmarkerforpregnancytest

http://www.colorado.edu/intphys/Class/IPHY3430200/image/2626.jpg 14
 Question2
Whichofthefollowinghormonesplaysthegreatestroleinstimulating
uterinecontractionduringlabour?

A. Relaxin Oestrogen Oxytoxin

B. Oxytocin fromfoetus
produced in hypothalamus; released in posterior pituitary 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 15
 Question3
Duringpregnancy: no milk production during pregnancy

A. progesteronealonestimulatesthedevelopmentoftheduct
systemofthemammarygland.
B. oestrogenalonestimulatesthedevelopmentofthelobuloalveolar
systemofthemammarygland.
C. progesteroneinhibitsmilkproduction.
D. prolactinstimulatesmilkproduction.

http://www.intechopen.com/books/autophagyadoubleedgedswordcellsurvival
ordeath/autophagyindevelopmentandremodellingofmammarygland1 16
Question4
The2majorhormoneinvolvedinlactationare
Prolactin
1. _______________,whichstimulates
alveolar
the_____________cellsinthe
mammaryglandtoproducemilk
oxytocin
2. _______________,whichstimulates
myoepithelial
contractionof______________cellsin
themammaryglandforejectionofmilk
Thesecretionofbothhormonesisstimulated
sucking on the nipple
by_____________________

17
NeonatalCirculatorysystem
Q1.Whatarethefeaturesofthefoetalcirculatorysystem?
high
1. _______heartrate&cardiacoutput
O2
helpmaintainsufficient____
higher
2. _________Hb concentrationinfoetalRBC low PO2
deliverydespite__________
3. FoetalHb ( higher
2 2)has________O2affinity

Bohr effect
4. ______________@placentafacilitateO2 unloadingbymaternalHbA

increases
5. O2 affinityofHbF ____________asCO2 diffusesout

6. Threestructuresthatshuntblood HbF
Text
awayfromfoetal________and________ HbA

a. ______________________
b. ______________________
c. ______________________

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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 20
 Schemeoffoetalcirculation
Pulmonarytrunk

Ductusarteriosus
Rightventricle
Pulmonaryveins

Rightatrium Foramenovale Leftatrium Leftventricle Aorta

Inferiorvenacava
Systemiccirculation

Ductusvenosus
Umbilicalarteries

Umbilicalvein

https://www.pinterest.com/pin/34480753371879946/ 21
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.Theductsarteriosusclosesandbecome
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. Passageofspermoutofthebody
a. obstructionofpassageway(congenital/secondarytootherconditions)
b. erectiledysfunction(e.g.chronicillness,psychological)
c. ejaculationproblems(e.g.premature/retrogradeejaculation,anejaculation)

24
Femaleinfertility
1. Problemwithovarianfunction
a. endocrineproblems(hypothalamus,anteriorpituitaryproblems) excess androgen
b. diseases/conditionsthataffectovarianfunctions(e.g.polycysticovarysyndrome)
c. results=aovulation (noovulation)
2.Tuboperitonealproblem(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
25
Genetics
Question1
WhichofthefollowingbasesisNOTfoundinDNA?

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

Adenine Guanine Cytosine Thymine Uracil

27
Question2
DNAmoleculesassume_______________structure.The2strandsof
DNAmoleculesarealignedin_________________fashion,with
double helical
____sugar phosphate___________backboneontheoutsideandthe
anti-parallel
____bases_____ontheinside.
The2DNAstrandsareheldtogetherthrough_____Hydrogen_______
bondsbetweenthebases.Aalwayspairwith_T___andGalwayspair
with__C___.Thisiscalled_______complementary base
paring_________________________.
5 3
A T
G C A
G C
C G
T A
T A
A T
G C G
C G
3 5
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 Formationofphosphodiester bond
5endhasafreephosphategroup(onC5)

H2O

3endhasafreeOHgroup(onC3)

http://meddic.jp/phosphodiester_bond 29
Question3
Eachcodonconsistsof
___3___bases.

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

AUG is the start signal

30
Question4
Translationreferstotheprocessof

A. DNAsynthesisfromaDNAtemplate. DNA replication

B. RNAsynthesisfromaDNAtemplate. Transcription
C. DNAsynthesisfromanRNAtemplate. Reverse Transcription
D. proteinsynthesisfromaDNAtemplate. Never happens
E. proteinsynthesisfromanRNAtemplate. Translation: mRNA

T--> U

31
 Question5
WhichofthefollowingtypesofRNAcarriesaminoacidstothe
ribosomeduringtranslation?
A. MessengerRNA
B. RibosomalRNA
C. TransferRNA
D. MicroRNA
E. Smallinterfering
RNA

anticodon

https://www.youtube.com/watch?v=zb6r1MMTkc
 RibosomeisacomplexofproteinsandrRNA

http://serc.carleton.edu/microbelife/research_methods/genomics/ribosome.html 33
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
34
Question6
Whichofthefollowingabnormalitiesmightoccurduring
anaphaseIofmeiosis?

A. Nondisjunctionofsisterchromatids
B. Nondisjunctionofhomologouschromosome
C. Deletionofpartofachromosome
D. Duplicationofpartofchromosome

35
 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 36
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

37
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

38
 Question1
Huntingtonsdiseaseisarareautosomaldominantdiseasethatcauses
abnormalinvoluntarywrithingmovementscalledchorea.Marywas
diagnosedwithHuntingtondisease.WhatisthechanceforMarysunborn
childtohaveHuntingtondisease?

A. 0%
Marysgenotype:_____________________
B. 25% Husbandsgenotype:__________________
C. 50%
D. 100% Mother(Mary)

___:Dominantdiseaseallele
Father

___:Normalrecessiveallele

Chorea:http://www.youtube.com/watch?v=OveGZdZ_sVs 39
Question2
Acouple,bothhavingnormalskincolour,haveasonwhohasalbinism.
Thiscanbeconcludedthatalbinismfollows______________________
inheritancepattern.
_____________________:
A. autosomaldominant Bothparentare____________________
Mother
B. autosomalrecessive
C. Xlinkeddominant

Father
D. Xlinkedrecessive
E. Cannotbeconcluded
Mother
________________:
Normalfather: _____

Father
Carriermother:_____

40
 Moreinformationisneeded.
Bothpedigreesshowrecessiveinheritance

Whichofthemisautosomalrecessive?

______________areequallyaffected
autosomalrecessive

Mainly________areaffected
Xlinedrecessive

http://www.cubocube.com/dashboard.php?a=1183&b=1269&c=103 41
Question3
Maletomaleinheritancecanbeobservedinwhichofthefollowing
patternsofinheritance?
__________________canreceivestheaffected
A. autosomaldominantautosomaldominantallelefromfather
B. autosomalrecessive
C. Xlinkeddominant ___chromosomepassesfrom
D. Xlinkedrecessive fatherto_________butnot_____

E. Ylinkedinheritance Sonsreceive____chromosomefromfather

42
Question4
Whichofthefollowingis/areTRUEaboutXlinkedrecessivedisease?

A. Anaffectedfatherwillneverproduceanaffectedsons.
B. Alldaughtersofanaffectedfatherwillbeaffected.
C. Halfofthedaughtersofacarrierfemalewillbeacarrier.
D. Maternalageisafactorinpassingtheabnormalgenetotheoffspring.
Higherrateof_______________abnormalitieswithaging
morechildwithgeneticdisorderborntomother______ofage

Mother

Normalfather:_______
Father

Affectedmother:_____ Alldaughtersare_______
Allsonsare___________

43
Question5
AfatherwithHuntersyndromehastwodaughterswhoareallcarrierof
thediseasealleleandasonwhoisunaffected.Thetwodaughtershave
threesonsofwhichtwoareaffectedandoneisnot,andthreedaughters
ofwhichoneiscarrierandtwoarenot.Itcanbeconcludedthatthe
Huntersyndromeshows

A. autosomaldominantinheritance.
B. autosomalrecessiveinheritance.
C. Xlinkeddominantinheritance.
D. Xlinkedrecessiveinheritance.

44
Question6
AmotherwithtypeABbloodhasachildwhoalsohastypeAB
blood.ApotentialfatherhasbloodtypeO.Itcanbeconcludedthat

A. hecannotbethefather.
B. hemightbethefather,butunlikely.
C. heisverylikelytobethefather.
D. heoranyothermaleofbloodtypeOcouldbethefather.
AlleleforAantigen: IA
AlleleforBantigen: IB
AlleleforHantigen: i

Genotypeforbloodgp A: IAIA orIAi

Genotypeforbloodgp B: IBIB orIBi
Genotypeforbloodgp AB: IAIB
Genotypeforbloodgp O: ii
45