CatherineLigad(82912483)[pleasedisregardtheotherHWthatIturnedin]

EllyLilagan(46554241)
ProblemSet1
Question1:
a)CharliesufferedfromDiamondBlackfanAnemiaSyndrome.
b)TheacronymforthediseaseisDBA,anditsOMIMnumberdependsonthechromosome(andsubsequent
ribosomalprotein)itaffects.Forexample,DBA1hasanOMIMnumberof105650,butbelongstoaphenotypic
seriesDBAthataffectsother(different)chromosomesalsohavetheirownOMIMnumbers.IfoundtheOMIM
numbersonhttp://www.omim.org/.
c)OMIMstandsfortheonlineMendelianinheritanceinman.Itisageneticdiseasedatabase.
d)ThelocuspositionofDBA1is19q13.2(RPS19).
e)Thegene(RPS19)thatseemstocausethisdiseasearemutationsinthegeneencodingribosomeprotein
S19.Instudies,theproteinwasfoundtobedetectedprimarilyinthenucleoli,whereRPS19colocalizedwith
nucleolin,anucleolarprotein.TwokeymissensemutationsidentifiedinDBA(val15phe&gly127glu)failed
tolocalizeRPS19tothenucleolus.
CITATION:http://www.omim.org/entry/603474
f)

g)IwouldvotetogivetheWhitakerspermissiontousethescreeningtechniquetochooseanembryothat
matchedCharles.Theydidnotpresentharmtothefutureembryo/fetus/child(i.e.theywerenotgoingtocreateit
onlytosaveCharleslifeandthendiscarditafterwards),butinsteadindicatedthattheywouldgiveitasmuch
careandattentionasachildthattheydidnotgeneticallyscreen.

Question2:
a)Black(B)isdominant,white(b)isrecessive.

b)

ii

Bb

Bb

BB

Bb

Bb

bb

Bb

Bb

Bb

bb

Bb

bb

Heterozygous(black):50%
Homo.Dom(black):25%
Homo.Rec(white):25%
1:2:1

Heterozygous(black):50%
Homo.Dom(black):0%
Homo.Rec(white):50%
1:1

c)Theblacktraitisgenotypicallyheterogeneous,withthecatbeingblackwitheitherBBorBbgenes.
d)Tyrosinase,ifmutated,couldcausealbinism.Theenzymetyrosinaseisinvolvedinpigment,namelymelanin,
production.Iftheenzymeismutated,itcanleadtolackofmelaninsynthesis.Hence,theappearanceofwhite
color(albinism)couldbeobserved.

Question3:
Chromosome18:

Normal:R
Chromosome22:

Normal:P

a)rrPPXrrPP

OMIM:CYB5Acausedbyhomozygousrecessive
CYB5A:r
OMIM:CYB5R3causedbyhomozygousrecessive
CYB5R3:p
*assumingnormalchromosome22forbothparents

rr

rr

PP

PP

rr

rr

PP

PP

Heterozygous(pink):0%
Homo.Dom(pink):100%
Homo.Rec(blue):0%

Heterozygous(pink):0%
Homo.Dom(pink):0%
Homo.Rec(blue):100%

ThegenotypethatcouldbeproducedasaresultofthisunionisrrPP.

b)Chancesthattheirchildrenwillbeblueis100%,becauseeventhoughtheirchromosome22genesare
normal,theirchromosome18genescarrythetraitfortypeI:CYB5A.

c)rrPPXRRpp
*assumingnormalchromosome18(notindicatedtobeheterogeneous)

Rr

Rr

Pp

Pp

Rr

Rr

Pp

Pp

Heterozygous(pink):100%
Homo.Dom(pink):0%
Homo.Rec(blue):0%

Heterozygous(pink):100%
Homo.Dom(pink):0%
Homo.Rec(blue):0%

ThegenotypethatcouldbeproducedasaresultofthisunionisRrPp.Thechancesthattheoffspringofthis
unionwouldbeaffectedbybluebloodis0%,sincebothgenesareheterozygous.

d)RrPpXRrPp

RR

Rr

PP

Pp

Rr

rr

Pp

pp

Heterozygous(pink):50%
Homo.Dom(pink):25%
Homo.Rec(blue):25%

Heterozygous(pink):50%
Homo.Dom(pink):25%
Homo.Rec(blue):25%

Thechancesthatanoffspringwouldbeaffectedwouldbe43.75%.

e)RrPpXRrPp

RR

Rr

PP

Pp

Rr

rr

Pp

pp

Heterozygous(pink):50%
Homo.Dom(pink):25%
Homo.Rec(blue):25%

Heterozygous(pink):50%
Homo.Dom(pink):25%
Homo.Rec(blue):25%

Thegenotypesthatincestuouschildrensoffspringwouldbe:
RRPP
6.25%

RrPP
12.5%

rrPP
6.25%

RRPp
12.5%

RrPp
25%

rrPp
12.5%

RRpp
6.25%

Rrpp
12.5%

rrpp
6.25%

f)Genesonseparatechromosomessortindependently(MendelII).Ignoringchromosomalrecombination,genes
onthesamechromosomedonotseparateindependently.

Question4:

ThelastdaytodropthisclassisOct.7.

Question5:

Notealsothatdisseminationofcoursematerialsto3rdpartiesorpostingonwebsitesetcotherthanthe
classwebsiteconstitutestheftofhaploinsufficientcopyrightedmaterial.