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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)

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Question2
Undernormalsituation,developmentofthemalegenitalducts
dependsontheeffectof

A. antiMllerian hormoneonMllerian duct.


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

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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

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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
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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

21
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

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
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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)

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
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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

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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

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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

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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
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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
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