Mogck&Science&30&(2015)&& & KEY&€¦ · Mogck&Science&30&(2015)&& & KEY&! 4! Topic&8:&What&is&Genetics?!& (Applicable&Reading&pgs.&78Q81)& Chromosomes&are!strands!of!DNA!that!contain!the!instructions!for

Mogck&Science&30&(2015)&& & KEY&

! 1!

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! 2!

KEY&TERMS&FOR&GENETICS&

Term& Definition&&

Chromosome! !Gene! !Deoxyribonucleic!acid!(DNA)! !Genetics! !Karyotype! !Centromere! !Amniocentesis! !Autosomal!cell! !Homologous!chromosomes! !Replicate! !Daughter!cells! !Mitosis! !Diploid!cells! !Asexual!reproduction! !Gamete! !Meiosis! !Crossing!over! !Haploid!cell! !Selective!breeding! !Cross!pollination! !Self!pollination! !Acquired!traits! !Inherited!traits! !Allele! !Dominant! !Recessive! !Genotype! !Punnett!square! !


! 3!

Homozygous! !Heterozygous! !Phenotype! !Sex!linked!inheritance! !Autosomal!inheritance! !Nucleotide! !Base!pair! !Histone! !Replication! !Amino!acid! !DNA!tiplet!code! !Mutation! !Point!mutation! !Frameshift!mutation! !Genetic!disease! !Carrier! !Mutagen!! !Carcinogen! !Pedigree! !Transformation! !Plasmid! !DNA!fingerprint! !Transgenics! !Genetic!engineering! !Genetically!modified!organism!(GMO)! !Bioweapons! !Recombinant!DNA! !Gene!therapy! !

& &


! 4!

Topic&8:&What&is&Genetics?!&

(Applicable&Reading&pgs.&78Q81)&

!

!&

Chromosomes&are!strands!of!DNA!that!contain!the!instructions!for!making!proteins.!!• Occur!in!pairs!(1!strand!from!your!mother,!1!strand!from!your!father)!• Chromosomes!are!generally!long!thin!strands!that!are!coiled!around!a!protein!• Most!often!photographed!during!cell!division,!when!each!chromosome!produces!an!

identical!copy!of!itself!that!remains!attached!at!one!point!(looks!like!an!X)!!Genes&are!a!segment!of!DNA!that!carries!instructions!that!result!in!the!production!of!proteins!!DNA&or!Deoxyribonucleic&acid&is!the!twisted!ladder!shaped!molecule!that!contains!genetic!information!of!cells!

• The!codes!that!make!up!a!gene!


! 5!

Human&Karyotype&

!The!human!body!contains!23!pairs!of!chromosomes!jumbled!up!in!the!nucleus.!A!karyotype!is!an!image!that!organizes!the!chromosomes!of!a!cell!in!relation!to!number,!shape!and!size.!Geneticists!use!three!features!to!identify!and!match!up!chromosomes:!!

• The!length!of!the!chromosome!(longest!is!#1!–!to!shortest)!• The!pattern!of!dark!bands!produced!on!each!chromosome!• The!position!of!the!chromosome’s!constricted!part!called!the!centromere!

!!

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Sex&Chromosomes!!

The!pair!of!chromosomes!matched!at!chromosome!23!determine!the!

sex!of!the!individual!!!!!!!!!!!!!!!! !


! 6!

Pros&

• test&for&abnormalities&

• recognize&and&prepare&for&issues&

• choice&of&abortaing&if&major&issues&

arise&

Cons&

• playing&God&• abortion&based&on&gender?&

• dangerous&to&fetus&

Amniocentecis&

(Applicable&Reading&pgs.&83)&

!!

Amniocentesis!is!a!prenatal!test!done!to!look!at!the!karyotype!of!an!unborn!child.!During!the!test!a!small!amount!of!amniotic!fluid!is!drawn!out!with!a!large!needle!from!the!area!around!the!fetus.!The!cells!are!examined!for!genetic!abnormalities!such!as!Down!syndrome.!!!Use!a!Venn!Diagram!to!weigh!the!pros!and!cons!of!the!Amniocentecis!procedure:!!!!!!!!!! !!!!!!!!!!!!!!!!!!!!!


! 7!

Proteins&


!The!major!types!of!proteins!found!in!organisms!are!listed!in!the!table!below.!Using!the!given!example,!discuss!what!you!think!the!general!role!of!each!type!of!enzyme!provided.!!!Type&of&Protein& Role&of&Protein& Example&

!Enzyme!

!!

&

Speed&up&chemical&

reactions&

Amylase!is!a!digestive!enzyme!in!your!saliva!that!breaks!down!long!starch!molecules!into!shorter,!more!digestive!glucose!molecules.!!!

!Structural!!

!!

&

Supports&are&created&to&

attach&to&proteins&

Keratin!is!a!structural!protein!that!makes!up!your!hair!and!nails.!Collagen!is!a!structural!protein!that!provides!a!framework!for!skin!and!internal!organs.!!!

!Transport!

!!

&

Materials&are&moved&

within&the&cell&or&body&

Cell!membrane!proteins!form!channels!and!pumps!in!the!cell!membrane!to!help!needed!materials!flow!into!the!cell!and!unwanted!materials!flow!out!of!the!cell.!!!

!Hormone!

!!

&

Signals&to&coordinate&and&

regulate&activities&

Insulin!is!a!hormonal!protein!that!regulates!blood!sugar.!Insulin!is!produced!in!the!pancreas!and!moves!in!the!bloodstream!to!other!organs!to!influence!their!use!of!glucose.!!!

!Contractile!

!!

&

Change&shape&and&create&

movement&&

Actin!and!myosin!are!proteins!that!band!together!to!allow!muscles!to!contract.!!!!

!Defensive!

!!

&

Protect&the&body&against&

disease&

Antibodies!are!proteins!that!act!in!the!body!by!attaching!to!disease_causing!pathogens!and!foreign!material.!!!!

!Energy!!

!!

Source&of&chemical&

potential&energy&released&

by&decomposition&and&

metabolism&

Casein!is!an!energy!protein!found!in!milk.!!!!!!

!


! 8!

Topic&9:!Mitosis&and&Meiosis&(Applicable&Reading&pgs.&84Q88)&

!Prior!to!learning!about!mitosis!and!meiosis,!it!is!important!to!have!the!basic!understanding!of!the!terms!we!will!be!using.!Define!the!words!below:!!!Word:!! Definition:!!&

Autosomal&Cell&

&

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A&cell&of&the&body&not&involved&in&sexual&reproduction!

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Homologous&Chromosome&

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A&pair&of&chromosomes&that&would&be&matched&during&

karyotyping&because&the&have&the&same&length,&

centromere&position&and&staining!&

Replicate&

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To&produce&an&exact&copy&of&a&DNA&strand!

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Daughter&Cells&

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The&two&identical&cells&produced&during&mitosis!

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Mitosis&

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The&division&of&an&autosomal&cell&into&two&identical&

daughter&cells!

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Diploid&Cells&

&

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Cells&with&pairs&of&homologous&chromosomes!

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Asexual&Reproduction&

&

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The&production&of&genetically&identical&offspring&from&

on&individual!

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Gamete&

&

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A&sex&cell,&such&as&sperm&and&an&egg,&produced&during&

meiosis&with&only&one&copy&of&each&chromosome&type!

&

Meiosis&

&

&

A&2&stage&form&of&cell&division&that&produces&gametes&

with&only&half&the&number&of&chromosomes&as&the&

original&cell!&

Crossing&Over&

&

&

The&exchange&of&corresponding&segments&of&DNA&

between&maternal&and&paternal&chromosomes&during&

meiosis!&

Haploid&Cell&

&

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A&cell&that&has&only&one&member&from&each&pair&of&

homologous&chromosomes&(23&non&pairs)!

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Fertilization&

&

&

When&sperm&meets&egg,&and&they&combine&to&create&an&

autosomal&cell&(23&pairs)!

!! !


! 9!

Mitosis&

!

!!

Meiosis&

!!!!

!!!!!!!!!!!!!!!!!!!!!!!


! 10!

Fertilization&

!When!chromosomes!in!male!gametes!join!with!chromosomes!of!a!female!gamete!during!fertilization,!the!fused!cell!contains!the!two!sets!of!chromosomes!found!in!an!autosomal!cell.!Thus,!the!fertilized!cell!is!able!to!grow!and!develop!through!the!process!of!mitosis.!!!List!3!benefits!of!sexual!reproduction:!!!

Genetic&diversity&

&

Evolution&

&

Survival&of&the&fittest&

!!!!!

!!

!!!!!

!!

Selective&Breeding&

!!Before!chromosomes!were!ever!discovered,!farmers!used!the!likeness!of!offspring!to!their!parents.!The!practice!of!selective!breeding!allowed!farmers!to!create!stocks!that!met!their!particular!needs.!!!The!aboriginal!people!of!North!America!employed!selective!breeding!to!grow!domesticated!crops!like!corn!for!thousands!of!years!!!!!

Selective&Breeding&Fun&Poster&Project&

!Out!of!a!hat,!choose!2!similar!organisms!that!you!will!selectively!breed!for!specific!traits.!Draw!a!picture!of!your!selectively!bread!animal!(or!plant)!and!describe!what!you!focused!on!for!your!selective!breeding!experiment!!! !


! 11!

Topic&9&Practice&Questions&

!1.!Describe!the!function!of!proteins!in!cell!membranes.!!!

Transport&to&allow&nutrient&to&cross&the&membrane&

!!2.!a.!Describe!how!selective!breeding!differs!from!the!process!of!natural!selection.!!!

Selective&breeding&does&not&happen&naturally,&it&is&breeding&

for&a&purpose&or&a&specific&trait&

!!b.!Describe!how!selective!breeding!is!similar!to!the!process!of!natural!selection.!!!

Natural&selection&authentically&allows&the&strongest&traits&to&

be&passed&on&&

!!3.!Genetic!engineering!can!be!defined!as!the!manipulation!of!genes!in!organisms!to!produce!desirable!characteristics!and!to!eliminate!undesired!characteristics:!Explain!how!selective!breeding!is!a!form!of!genetic!engineering.!!!

This&is&the&same&definition&however&selective&breeding&s&

manipulated&by&humans&and&bred,&not&just&the&DNA&

!!4.!How!many!chromosomes!are!in!a!normal!human!autosomal!cell?!How!many!chromosomes!are!in!a!normal!human!gamete?!!

Autosomal&=&23&pairs&(46),&Gamete&=&23&chromosomes&total&

!!5.!Determine!the!gender!of!an!individual!who!has!two!X!chromosomes!in!each!autosomal!cell!instead!of!an!X!and!Y!chromosome?!!

XX&=&female.&XY&=&male&

!!6.!!Explain!why!the!usual!number!of!chromosomes!in!autosomal!cells!for!any!species!is!always!an!even!number?!!

It&will&always&be&even&because&you&get&one&from&the&mother&

and&one&from&the&father&in&fertilization&

!


! 12!

Topic&10:!Inheritance&(Applicable&Reading&pgs.&90Q91)&

!The!development!of!the!simple!microscope!allowed!for!the!discovery!of!cells,!such!as!sperm!and!eggs,!but!these!instruments!were!not!powerful!enough!to!observe!chromosomes.!During!the!17th!and!18th!centuries,!the!theory!of!preformation!was!popular.!!!Preformation&is!the!idea!that!all!body!parts!are!already!formed!at!the!beginning!of!development!and!simply!grow!from!a!very!time!full_formed!body!into!a!larger!body.!!!In!the!19th!century,!Charles&Darwin!used!his!studies!of!the!natural!world!to!develop!and!publish!his!theory!of!evolution.!His!theory!sated!that!organisms!best!suited!to!their!environment!survived!to!pass!on!their!characteristics!to!their!offspring,!but!Darwin!was!not!able!to!explain!how!characteristics!are!passed!on.!!!In!the!1860s,!Gregor&Mendel!was!the!first!person!to!undertake!detailed!and!systematic!studies!into!the!inheritance!of!the!characteristics.!Mendel!was!a!monk!who!became!interested!in!the!breeding!of!pea!plants!that!grew!in!the!monastery!where!he!lived.!Gregor!Mendel!is!now!known!as!the!father!of!genetics.!!!Common!garden!pea!plants!were!good!test!subjects!for!Mendel’s!research!because!they!are!easy!to!grow!in!large!numbers!and!the!can!be!manipulated!by!transferring!pollen!from!one!plant!to!another!in!a!process!called!cross&pollination.&Mendel!also!tested!plants!by!self!pollination,!and!was!surprised!by!the!results.!Mendel!discovered!that!several!traits!in!pea!plants!were!easy!to!recognize!and!occurred!in!2!ways:!purple!flowers!or!white!flowers,!round!seeds!or!wrinkled!seeds,!yellow!seeds!or!green!seeds!and!other!forms.!!!From!his!pea!plants,!Mendel!made!the!following!conclusions:!!

!1.&The&inheritance&of&traits&must&be&determined&by&factors&

(now&called&genes).&&

&

2.&Individuals&randomly&inherit&one&factor&(gene)&from&each&

parent.&

&

3.&Genes&are&independently&passed&to&the&offspring.&&

&

4.&Some&genes&are&more&powerful&than&others;&so&&a&trait&may&

not&appear&in&an&individual&because&&the&more&powerful&gene&

masks&it,&but&it&can&still&be&passed&onto&the&individual’s&

offspring.&&

! !


! 13!

Inheritance&


&

!List!5!traits!you!may!have!inherited!from!your!parents:!!!!!!!!List!3!acquired!traits!you!have:!!!!!!Alleles!are!the!parts!of!the!gene!that!are!responsible!for!a!certain!characteristic.!!!For!example,!you!may!have!the!allele!on!a!gene!that!encodes!your!ability!to!roll!your!tongue.!An!alternate!allele!for!the!tongue!rolling!may!encode!you!not!able!to!roll!your!tongue.!Individuals!possess!2!alleles!for!every!trait,!located!at!specific!sites!on!homologous!chromosomes.!Since!homologues!separate!during!meiosis,!only!one!of!these!alleles!is!passed!onto!each!gamete.!!!Dominant!traits!are!caused!by!dominant!alleles.!If!an!offspring!receives!even!one!dominant!allele,!the!dominant!trait!will!appear!in!that!offspring.!!!Recessive!traits!are!only!expressed!when!an!offspring!receives!two!copies!of!the!recessive!allele.!!!Homologous!or!homozygous!alleles!occur!when!both!alleles!are!the!same!(either!both!dominant!or!both!recessive).!!!Heterologous!or!heterozygous!alleles!occur!when!the!alleles!are!different!(one!dominant!and!one!recessive).!!The!above!definitions!refer!to!a!person’s!genotype.!That!is!the!descriptions!of!the!alleles!present!within!the!cell.!In!contrast,!more!often!people!will!discuss!the!phenotype!of!others.!!!Phenotype!refers!to!the!physical!and!physiological!trails!of!an!organism.!Below!are!examples!of!phenotype!dominance.!!

!!

Brown eyes are dominant vs green , grey , hazel or blue eyes

Dark ha ir i s dominant vs blonde , red and l ight as i s Curly ha ir vs stra ight

Extra d ig its i s dominant vs normal d ig i ts !! !


! 14!

Punnett&Squares&

!1. Draw!a!square!and!then!label!each!row!and!column!with!the!alleles!of!each!gamete!2. Fill!in!the!square!with!the!offspring!genotype!3. Determine!the!fraction!of!the!offspring!with!each!genotype!of!an!individual!offspring!

possessing!a!particular!genotype!!Example!problem:!!

• 2!pea!plants!in!the!parent!generation!each!contain!the!dominant!allele!P!that!codes!for!purple!flowers!and!the!recessive!allele!p!that!codes!for!white!flowers.!Use!a!Punnett!square!to!predict!the!percentage!probability!that!a!plant!in!the!first!generation!of!offspring!will!have!white!flowers.!!

!

! P& p&

P& PP! Pp!p& Pp! pp!

!!!!!!!!&

&

!


! 15!

Genetics&of&Blood&Typing&!!

(Applicable&Reading&pgs.&99)&

!Not!all!traits!are!controlled!by!one!gene!or!have!only!two!alleles!for!a!gene.!Hair!and!eye!color!do!not!appear!only!in!2!forms!because!they!are!controlled!by!more!than!1!pair!of!genes.!Blood!type!is!an!example!of!a!trait!with!more!than!2!possible!alleles.!There!are!three!forms!or!alleles!of!the!blood_type!gene,!represented!by!the!letters!A,!B!and!O.!These!three!alleles!can!produce!4!phenotypes.!Using!a!Punnett!square,!determine!the!4!possible!blood!genotypes:!!!

& A& B& O&

A& AA! AB! AO!B& AB! BB! BO!O& AO! BO! OO!

!!

Phenotype& Genotype& %&Probability&

!Blood!Type!O!! OO& 11%&!Blood!Type!A!! AA&/&AO& 33%&!Blood!Type!B!! BB&/&BO& 33%&!Blood!Type!AB!! AB& 22%&

!!! !


! 16!

Gender&and&Genetics&


!You!can!also!use!a!punnett!square!to!illustrate!how!gender!is!determined!by!an!offspring’s!inheritance!of!the!X!and!Y!sex!chromosomes.!!!Since!the!female!only!has!X!chromosomes,!all!her!eggs!produced!during!meiosis!normally!contain!a!single!X!chromosome.!The!male!has!either!an!X!or!Y!chromosome.!Using!a!punnett!square,!you!can!see!that!there!is!always!a!50%!chance!of!the!offspring!becoming!a!boy!or!a!girl.!!!

& X& X&

X& XX! XX!Y& XY! XY!& 50%! 50%!

!!

The!X!and!Y!chromosomes!that!determine!gender!also!carry!other!genes!that!do!not!determine!the!sexual!characteristics!of!the!individual.!Genes!like!these!are!said!to!be!responsible!for!sex!linked!inheritance.!!!Genes!carried!on!the!other!22!pairs!of!chromosomes!are!said!to!be!responsible!for!autosomal!inheritance.!!!!With&a&parter,&find&4&sex&linked&inherited&traits&and&complete&the&chart&for&them&below:&&

&

Trait& Carried&on&

the&X&or&Y?&

Description&of&the&phenotype& %&of&the&population&

with&this&phenotype&

!Color!Blindness!

&

&

&

X&

&

Cannot&see&colors&

7%&of&men&

0.4%&of&

women&

!Male!Pattern!Baldness!

!

&

X&

Balding&on&the&male,&

from&the&mother’s&

father&

&

85%&of&men&

!Hemophilia!

!!

&

X&

&

Muscle&weakness&

&

1&in&3000&

males&

!Retinitus!Pigmentosa!!

!

&

Y&

Hairs&coming&out&of&

ears&and&growing&on&

the&ears&

&

1&in&2000&


! 17!

&

Sex&Linked&Inheritance&EXAMPLE&Problem:&&

!A!homozygous!woman!who!has!two!alleles!for!full!color!vision!has!children!with!a!color!blind!man.!!!a.!Describe!the!genotype!of!each!parent!!

XBXB&&and&XbY&

!b.!Build!a!Punnett!square!to!predict!the!possible!genotypes!of!their!children!!

! XB! XB!Xb! XBXb!XBXb!Y! XBY! XBY!

!c.!Use!the!Punnett!square!to!explain!why!the!sons!have!full!color!vision!even!though!their!father!is!color!blind.!!!

Boys&receive&X&chromosomes&from&their&mother,&therefore&a&

homozygous&mom&will&only&give&a&dominant&allele&

!d.!Use!the!Punnett!square!to!explain!why!the!daughters!are!carriers!for!the!color_blind!allele!even!though!they!have!full!color!vision.!!

!The&father&will&only&donate&an&Xb&chromosome&therefore&the&

girls&will&always&be&carriers!!!!!

!


! 18!

75%&tongue&rollers&

25%&nonQtongue&rollers&

50%&tongue&rollers&

50%&nonQtongue&rollers&


!Use!the!following!information!to!answer!the!following!4!questions:!!&

In&human&beings,&the&ability&to&roll&one’s&tongue&is&dominant&over&notQtongue&rolling.&

As&you&solve&the&following&4&questions,&use&R&to&represent&the&dominant&allele&for&

tongue&rolling&and&r&to&represent&the&recessive&allele&for&nonQtongue&rolling.&&

&

1. Two!parents!each!possess!the!dominant!allele!R!and!the!recessive!allele!r.!Use!a!Punnett!square!to!determine!the!percentage!probability!that!their!offspring!will!be!able!to!roll!their!tongues.!!

!!

!2. One!parent!possesses!the!dominant!allele!R!and!the!recessive!allele!r.!The!other!

parent!possesses!two!copies!(being!homozygous)!of!the!recessive!allele!r.!!!

a. Are!both!of!these!parents!able!to!roll!their!tongues?!

&

No,&rr&is&not&able&to&roll&their&tongue&

!b. Use!a!punnett!square!to!determine!the!percentage!probability!that!their!

offspring!will!be!able!to!roll!their!tongues.!!!

& R& r&

r& Rr! rr!r& Rr! rr!

!3. Use!letters!to!describe!the!genotype!of!each!of!the!following!individuals:!!

a. a!homozygous!tongue!roller!=!RR!!

b. a!heterozygous!tongue!roller!=!Rr!!

c. a!homozygous!non_tongue!roller!=!rr!!! !

& R& r&

R& RR! Rr!r& Rr! rr!


! 19!

100%&tongue&rollers&

&

4. Draw!a!Punnett!square!for!the!cross!of!a!homozygous!tongue!roller!with!a!homozygous!non_tongue!roller.!!

!

& R& R&

r& Rr! Rr!r& Rr! Rr!

!a. State!the!likely!percentage!probability!that!the!offspring!will!be!able!to!roll!

their!tongues!=!100%!!

b. State!the!likely!percentage!probability!that!the!offspring!will!not!be!able!to!

roll!their!tongues!=!0%!!

c. State!the!likely!percentage!probability!that!the!offspring!will!be!able!to!roll!their!tongues!but!will!also!carry!the!recessive!non_tongue!rolling!gene!=!

100%!!

5. List!some!reasons!why!pea!plants!are!so!well!suited!for!genetic!studies.!!!

Fast&reproduction,&easy&to&see&traits,&easy&to&manipulate,&

multiple&plants&available&&

!!

6. Describe!the!Controlled,!Manipulated!and!Responding!variables!in!Mendel’s!studies!using!the!chart!below:!!

!Controlled&Variables&(3)& Manipulated&Variable&(1)& Responding&Variables&(3)&

Type&of&pea&plants&

&

Dominant&and&recessive&

combinations&

Flower&color&

Length&of&growing&

season&

Manipulation&of&

alleles&

Plant&height&

Process&of&

fertilization&

& Wrinkly&or&smooth&

peas&

!7. Sexual!reproduction!creates!beneficial!genetic!diversity.!List!some!possible!

advantages!of!asexual!reproduction.!!

&

Fast,&easy,&only&need&one&parent


! 20!

Nn&=&50%&fuzzy&

&

NN&=&0%&&

&

nn&=&50%&smooth&

&

100%&carriers&for&smooth&

Use!the!following!information!to!answer!the!following!3!questions:!!!Nectarines&and&peaches&are&genetic&variations&of&the&same&fruit.&The&fuzzy&skin&of&a&

peach&is&produced&by&a&dominant&allele,&N,&and&the&smooth&skin&of&a&nectarine&is&

produced&by&a&recessive&allele,&n.&&

&

8. State!whether!the!skin!phenotpe!of!the!following!individuals!is!fuzzy!or!smooth:!!

a. NN!=!Fuzzy!!

b. Nn!=!Fuzzy!!

c. nn!=!Smooth!!

9. State!the!likely!genotype!of!each!example:!!

a. a!smooth!skinned!nectarine!=!nn&!

b. a!fuzzy!skinned!peach!bred!from!a!cross!between!a!peach!producing!tree!

and!a!nectarine!producing!tree!=!Nn!!

c. a!fuzzy!skinned!peach!produced!from!a!long!line!of!peach!producing!trees!=!

NN!!

10. Draw!a!Punnett!square!for!a!cross!between!a!heterozygous!peach!and!a!homozygous!nectarine:!!

!!

!a. Use!you!Punnett!square!to!determine!the!probability!of!this!cross!producing!

the!genotype!NN,!Nn!and!nn.!!!

b. Determine,!from!this!cross,!the!probability!of!offspring!produces!with!the!smooth!skinned!nectarine!phenotype!and!the!probability!of!offspring!produced!with!the!fuzzy!skinned!peach!phenotype.!!

!c. Determine!which!percentage!of!the!offspring!is!a!carrier!of!the!allele!for!

smooth!skin!!

d. Is!it!possible!for!a!nectarine!to!be!heterozygous!for!the!smooth_type!trait?!Explain.!!

!

NO,&&a&recessive&allele&must&be&homozygous&to&be&visible&

& N& n&

n& Nn! nn!n& Nn! nn!


! 21!

Daughters&=&0%&color&blind,&

100%&carriers&of&the&allele&

&

Sons&=&50%&color&blind&

11. Draw!a!sex!linked!Punnett!Square!for!the!cross!between!a!man!with!full!color!vision!and!a!woman!with!full!color!vision!who!is!a!female!carrier!of!the!recessive!color!blind!allele.!!

a. Determine!the!percentage!probability!of!their!sons!being!color!blind!b. Determine!the!percentage!probability!of!their!daughters!that!will!be!carriers!

of!the!recessive!color!blind!allele!!

!!!!!!!!!!

12. An!expectant!father!who!is!color!blind!is!afraid!that!his!soon!to!be!born!son!will!also!be!color!blind.!Explain!to!this!father!why!it!is!best!to!look!at!the!mother’s!side!of!the!family!for!an!indication!about!whether!their!son!will!become!color!blind.!!

!

The&colorQblind&allele&is&on&the&X&chromosome,&which&comes&

from&the&mother.&The&father&only&provides&the&Y&chromosome&

for&male&offspring.&&

!13. Determine!which!gender!would!be!most!affected!if!a!trait!were!found!only!on!a!gene!from!

the!Y!chromosome?!!!

Males&=&XY&

&

&

14. A!family!has!3!girls!and!is!expecting!a!fourth!child.!What!is!the!probability!that!the!fourth!child!will!be!a!boy?!!

!

Every&time&it&is&a&50/50&chance&of&a&boy&or&girl.&&

!!

15. Explain!(using!an!example)!the!difference!between!autosomal!inheritance!and!sex_linked!inheritance.!!

&

Autosomal&=&on&one&of&the&22&pairs&of&chromosomes&(i.e.&hair&

color,&eye&color,&height,&skin&tones)&&

&

Sex&linked&=&only&on&the&X&or&Y&chromosomes&(i.e.&male&pattern&

baldness,&hemophilia)&&

&

& &

& XC& Xc&

XC& XC&Xc! XC&Xc!

Y& XCY! XcY!


! 22!

100%&heterozygous&dominant&&

&

&100%&yellow&

75%&yellow,&25%&green&

& &

50%&hetero&Yellow&

25%&homo&yellow&&

25%&homo&green&

100%&male&with&white&eyes&(XrY)&

&

0%&females&with&white&eyes&

&

100%&of&the&daughters&will&be&XRXr&

carriers&of&the&recessive&allele&

16.!In!garden!peas,!the!yellow!seed!color!is!an!autosomal!dominant!trait!over!the!green!seed!color.!!

a. Choose!letters!to!represent!the!dominant!and!recessive!alleles!for!this!trait.!Write!the!genotypes!for!a!pea!plant!that!is!homozygous!for!yellow,!homozygous!for!green!and!heterozygous!for!yellow!

&

G&&=&dominant,&g&&=&recessive&(GG&homo&yellow,&Gg&hetero&yellow,&gg&homo&green)&

!b. Draw!a!Punnett!square!for!a!cross!between!a!homozygous!yellow!seeded!pea!

plant!with!a!homozygous!green!seeded!pea!plant.!State!the!predicted!genotypes!and!phenotypes!of!the!offspring.!!

&

& G& G&

g& Gg& Gg&

g& Gg& Gg&!

c. Draw!a!Punnett!square!for!a!cross!between!two!of!the!offspring!produced!in!the!above!section!(b).!State!the!predicted!genotypes!and!phenotypes!of!the!offspring.!

&

& G& g&

G& GG& Gg&

g& Gg& gg&!17.!The!gene!for!eye!color!in!fruit!flies!is!located!on!the!X!chromosome.!The!allele!for!the!dominant!red_eye!color!could!be!represented!by!the!allele!XR,!while!the!allele!for!the!recessive!white_eye!color!could!be!represented!by!the!allele!Xr.!!

a. Draw!a!sex!linked!Punnett!square!for!a!male!with!red!eyes!who!breeds!with!a!female!with!white!eyes.!!

!

& Xr& Xr&

XR& XRXr& XRXr&

Y& XrY& XrY&!


! 23!

Topic&11:&Investigating&Dominant&and&Recessive&Human&Traits&


!Read!pages!102K103!in!your!textbook.!Perform!the!lab!and!complete!a!writeKup!according!to!the!requirements!below.!Remember!labs!are!worth!40%!of!your!overall!grade.!!

!Labs!are!due!1!week!after!they!are!performed.!This!lab!is!due:!___________________________________________!!Background&Info:&remember!full!sentences!no!point!form!notes!!

• Describe!the!difference!between!a!genotype!and!a!phenotype,!using!an!example!of!your!choice!

• Describe!the!difference!between!homozygous!and!heterozygous!• Discuss,!using!a!specific!example,!dominant!and!recessive!traits.!!• Explain,!using!a!specific!example,!a!sex!linked!trait!

!Objective:&!

• Write!the!purpose!of!the!lab!in!a!scientific!statement!(i.e.!The!purpose!of!this!lab!was!to…)!!Variables:&&

• List!your!controlled,!manipulated!and!responding!variables!!Materials&and&Procedure:&&

• Reference!the!textbook!–!include!pages!!!Analysis&of&Results:&&

• Answer!questions!1_6!pg!103!!Conclusion:&&

• Create!a!statement!beginning!with!“according!to!the!evidence…”!and!discuss!the!percentages!of!dominant!and!recessive!traits!in!the!classroom!

• Remember!to!mention!errors!that!may!have!influenced!your!lab!!Error&Analysis:&&

• Mention!the!same!errors,!and!discuss!how!they!may!have!influenced!your!results.!Suggest!scientific!ways!to!avoid!these!errors.!!

!Follow&Up&Questions:&&

• Answer!questions!1_3!on!page!104!in!your!textbook!!Sources:&&

• Remember!MLA!format!–!they!should!be!present!throughout!–!as!well!as!a!list!at!the!end!!!

!!!


! 24!

Topic&12:&DNA!(Applicable&Reading&pgs.&106Q109)&

!!The!overall!shape!of!DNA!is!a!twisted!ladder,!composed!of!chemical!units!called!nucleotides.!!Each!nucleotide!contains!3!important!parts:!!

!1. A&phosphate&molecule&

&

2. A&sugar&called&deoxyribose&

&

3. 1&of&4&nitrogen&based&molecules&&

(Adenine,&Thymine,&Cytosine&or&Guanine)&

!!

!!!The!phosphate!and!sugar!repeat!to!create!the!“backbone”!of!the!DNA!molecule,!the!nitrogen!base!portions!stick!out!to!connect!to!the!opposite!backbone.!!!


! 25!

Discovering&the&Structure&of&DNA&

!• Erwin&Chargaff!discovered!a!one!to!one!

ratio!between!Adenosine!and!Thymine!and!between!Cytosine!and!Guanine…!but!he!couldn’t!figure!out!why?!!

!• Rosalind&Franklin!fired!a!beam!of!X!

rays!at!a!thread!of!DNA,!and!discovered!an!X!formation!created!by!the!redirected!X!ray.!!

o Franklin!interpreted!this!as!a!helix!structure.!!

o Franklin!also!discovered!the!phosphate!portion!of!DNA!was!on!the!outside!of!the!helix!

!• Maurice!Wilkins!was!Rosalind!Franklin’s!boss,!who!secretly!showed!the!results!of!

her!work!to!Canadian!team!Watson!and!Crick!without!her!permission!!

• Watson&and&Crick!were!able!to!use!the!findings!to!assemble!a!working!structure!of!DNA!

o In!1962!Watson!and!Crick!won!the!Nobel!prize!in!medicine!for!their!work!!o 4!years!earlier,!Franklin!had!passed!away!from!ovarian!cancer!

!• Histones!were!discovered!by!Albrecht!Kossel,!but!were!dismissed!until!the!1990s!

when!it!was!determined!that!because!DNA!is!so!long!it!must!be!further!compacted!and!twisted!around!a!protein!called!histones!that!acts!like!a!spool.!&

&

&

& &


! 26!

DNA&Replication&


&

!When!a!cell!needs!to!multiply!to!aid!in!the!growth!or!repair!of!an!organism,!DNA!must!first!be!copied.!It!is!important!that!each!of!the!2!daughter!cells!are!identical,!otherwise!the!cells!may!cause!mutation!(and!even!death)!!During!replication,!the!2!complimentary!strands!of!DNA!are!untwisted!and!the!bonds!between!the!bases!are!broken,!separating!like!a!zipper.!This!separation!is!aided!by!several!protein!enzymes!including!DNA&Helicase.!!!Free!floating!base!nucleotides!in!the!nucleus!attach!to!the!now!opened!DNA,!creating!two!new!DNA!molecules,!which!coil!back!into!the!double!helix!shape!as!they!are!formed.!!!

!

!Using&the&Genetic&Code:&Protein&Synthesis&

!DNA!eventually!codes!for!proteins…!but!its!not!that!easy!!DNA&triplets&code&for&AMINO&ACIDS!!!!Amino&acids!are!the!20!building!blocks!of!proteins,!determined!by!genetic!coding.!The!DNA!triplet!code!is!a!grouping!of!three!adjacent!nitrogen!bases!found!on!a!gene!that!codes!for!the!amino!acid!to!be!produced,!or!to!begin!or!end!the!reading!of!the!gene.!!!

The!triplet!code!key!can!be!found!in!your!Science!30!Data!Booklet!on!page!13!!

!!!!!!!!!!!!!!!!!!


! 27!


!1. The!nucleotides!are!the!building!blocks!of!the!DNA!molecule!

a. Sketch!the!nucleotide!that!has!thymine!as!its!nitrogen!base!and!label!the!three!distinct!parts!of!the!nucleotide!

!!!!!!!

b. The!DNA!molecule!has!been!described!as!a!twisted!ladder.!Add!labels!to!your!sketch!to!indicate!which!parts!of!the!nucleotide!will!form!the!rungs!of!the!twisted!ladder!and!which!part!will!form!the!long!sides!

!!2.!Write!the!base!sequence!that!makes!up!the!complementary!strand!for!the!nucleotide!sequence!of!each!provided!strand.!!!

a. AAATGTCGCCT! TTTACAGCGGT!!

b. TAGTCTA! ATCAGAT!! !

c. GATTGATTCCGGGCTAA! CTAACTAAGGCCCGTAA!!

3.!Using!what!you!know!about!DNA!structure,!account!for!the!findings!of!Erwin!Chargaff!!

Chargaff&found&that&A&and&T&are&the&same&ratio&so&A&bonds&to&

T&and&C&and&G&have&the&same&ratio&so&C&bonds&to&G.&&

!4.!Describe!Rosalind!Franklin’s!contribution!to!the!discovery!of!the!DNA!molecule’s!structure.!!&

Franklin&discovered&the&backbone&was&on&the&outside&and&

the&nitrogens&base&pairs&were&on&the&inside.&She&also&figured&

out&it&was&a&helix&structure.&&

!5.!List!the!amino!acid!sequence!that!would!be!produced!from!the!following!base!sequence!found!on!a!gene!segment!!

a.!ATAAAGCGACTTCCC!=!!isoleucine,&lycine,&arginine,&leucine,&proline&!b.!AGAGGGGGTCTAGCC!=!arginine,&glycine,&glycine,&leucine,&alanine!

!c.!GTATTAGATTACGTTACA!=!valine,&leucine,&aspartate,&tyrosine,&valine,&threonine&

& &

Long&sides&! &&

1

" &Rungs&

2


! 28!

!6.!Write!a!DNA!sequence!of!bases!that!coded!for!the!production!of!the!following!amino!acid!chains!!

a.!Tryptophan_Phenylanine_Tyrosine!=!TGG&TTT&TAT!

b.!Methionine_Glutamate_Aspartate!=!ATG&GAA&GAT!

c.!Glutamate_Methionine_Cysteine!=!GAA&ATG&TGT!!7.!Indicate!whether!each!of!the!following!is!true!or!false.!If!false,!correct!the!statement.!!

a.!A!DNA!triplet!code!is!made!up!of!three!amino!acids!!

FALSE&–&3&NITROGEN&BASES!b.!A!DNA!triplet!code!may!code!for!the!same!amino!acid!as!another!DNA!triplet!code!

TRUE!c.!Adenine!bases!can!only!bond!to!cytosine!bases!

! FALSE&&Q&A&BONDS&TO&T&

d.!A!double!helix!is!similar!shape!to!a!spiral!staircase!

TRUE!e.!Genes!provide!the!instructions!to!make!proteins!

! TRUE!f.!There!are!ten!different!amino!acids!

! FALSE&–&4&AMINO&ACIDS!g.!Histone!is!one!of!the!four!base!pairs!found!along!the!DNA!molecule!

FALSE&–&HISTONE&IS&A&PROTEIN&THAT&DNA&WRAPS&

AROUND&WHEN&IT&CONDENSES!h.!Alternating!phosphate!and!deoxyribose!sugar!make!up!the!backbone!of!a!DNA!strand!with!the!base!pairs!attached!in!the!middle!

! TRUE!i.!During!replication,!the!DNA!breaks!into!small!pieces!and!reforms!as!2!smaller!halves!

! FALSE&–&DNA&PULLS&APART&TO&ALLOW&FOR&REPLICATION!j.!A!DNA!molecule!has!three!strands!of!nucleotides!braided!together!

! FALSE&–&2&STRANDS!!8.!Draw!a!series!of!diagrams!to!show!how!DNA!is!replicated.!Use!2!colors!to!distinguish!between!the!original!DNA!strand!and!the!newly!produced!DNA!strands.!!


! 29!

Topic&13:!Mutations&and&Genetic&Disease!(Applicable&Reading&pgs.&120)&

!Genetic!diseases!are!diseases!that!are!caused!by!a!certain!allele!being!passed!on!from!your!parents.!If!a!disease!is!caused!by!a!recessive!allele,!an!individual!requires!2!copies!of!a!mutated!recessive!allele!to!develop!the!disease.!!!Complete!the!following!chart!regarding!genetic!diseases!Disease& Description& #&

Chromosome&

Dominant&

or&

Recessive?&

Occurs& Of&Note&

!Cystic!Fibrosis!

Thick&sticky&mucus&builds&up&in&

the&lungs&and&digestive&tract&

making&it&difficult&to&breath&or&

eat&food.&Prone&to&infection&

because&they&are&unable&to&

clear&bacteria.&!

&

7!&

Autosomal&

recessive!

1&in&2500&

kids&born&

in&Canada!

1&in&25&

Canadians&

are&

carriers!

!Huntingtons!

Brain&cells&die&in&particular&

regions,&causing&loss&of&control&

of&all&body&function.&Symptoms&

appear&ages&30Q45!

&

4!&

Autosomal&

dominant!

&

1&in&

10000&

Canadians!

!

!Hemophilia!

Impaired&blood&clotting&ability,&

internal&bleeding&or&

hemorrhaging&is&a&common&

risk&associated&with&this&

dangerous&condition!

&

X!&

Sex&linked&

recessive!

&

A:&1&in&

10000&

B:&1&in&

50000&

Canadians!

Males&

effected&

more&than&

females!

!!Mutations!are!like!“typos”!in!your!genes.!!!

A!MUTAGEN&is!a&substance&that&causes&a&mutation&in&the&genetic&

code&of&an&individual&&

!

Ex.!Microwaves,&radiation&&!!

A!CARCINOGEN&is!a&cancer&causing&substance&!

Ex.!Sunshine,&cigarette&smoke,&benzene,&lead&!!!! !


! 30!

Mutations&


&

Mutations!in!DNA!can!happen!when!one!nucleotide!during!replication!accidentally!gets!substituted!for!another!nucleotide.!The!amino!acid!chains!produced!from!the!mutated!sequence!(now!altered)!may!affect!protein!function.!A!nucleotide!base!substitution!is!called!a!point&mutation.&!!Ex.!The!sentence!below!will!be!mutated!by!a!point!mutation.!!!

The&fox&can&run& & & & The&box&can&run&

&

The!sentence!only!changed!the!meaning!of!the!phrase,!but!it!can!be!confusing.!!!!The!addition!or!deletion!of!a!nucleotide!can!also!affect!the!DNA!base!sequence!resulting!in!an!altered!or!incomplete!amino!acid!chain.!The!results!tend!to!be!much!more!serious,!due!to!the!fact!that!it!affects!the!rest!of!the!nucleotides!“downstream”!This!mutation!is!known!as!a!frameshift&mutation.&!!Ex.!The!sentence!below!will!be!mutated!by!a!frameshift!mutation!!

The&fox&can&run& & & ath&efo&xca&nru&n&

&

The!sentence!is!completely!garbled!and!confusing.!!!

Pedigree&Charts&&


&

A!pedigree&chart,!like!the!one!shown!below,!is!a!set!of!standard!symbols!used!as!a!tool!for!geneticists!to!trace!a!particular!trait.!It’s!like!a!genetic!family!tree!!!In!your!data!booklet,!on!page!13,!there!are!helpful!hints!to!assist!you!in!reading!a!provided!pedigree!chart!(on!your!exam)!!!

!& &


! 32!

Beneficial&Mutation&


!Sometimes!a!mutation!that!passes!on!benefits!a!species!and!allows!them!to!adapt!more!readily!to!their!environment.!This!is!Darwin’s!Survival&of&the&Fittest!&!Example!1:!The!speckled!moth!and!the!industrial!revolution!!

!!!Example!2:!Resistant!Bacteria!(superbugs)!!

!!! !


! 33!


!1. The!bolded!code!below!shows!two!DNA!strands!–!the!lower!strand!is!a!product!of!

replication.!A!mutation!occurs!in!the!middle!of!a!gene!sequence.!The!sequence!of!bases!gets!changed!from!TAT!to!TAA.!!

!Original!DNA!strand:!! ! CGTATCG&

&

Replicated!DNA!strand:!! ! CGTAACG&

!

a. Is!this!a!point!mutation!or!a!frameshift!mutation?! Point!!

b. Identify!what!amino!acid!corresponds!with!the!DNA!sequence!of!TAT!

Tyrosine!c. What!corresponds!with!the!DNA!sequence!TAA?!! STOP!

!d. Explain!what!effect!the!change!to!the!DNA!sequence!has!on!the!production!of!

the!amino!acid!chain.! coding&would&continue,&instead&of&

stopping.!!

2. A!gene!sequence!reads!GGATTAGAG.!A!mutation!occurs!and!the!sequence!now!appears!as!GGGATTAGAG.!!

!a. Identify!the!sequence!change!as!either!a!point!mutation!or!a!frameshift!mutation!

Frameshift&&

&

b. List!the!amino!acid!sequence!produced!by!the!original!DNA!strand! &

GLY&LEU&&GLU&

&

c. List!the!amino!acid!sequence!produced!by!the!replicated!mutated!DNA!strand!!

GLY&ISO&ARG&…&

&

d. !Explain!the!effect!of!this!sequence!change!on!the!production!of!the!amino!acid!chain.!

The&sequence&is&completely&different&other&than&the&

glycene&at&the&beginning&

!!! !


! 34!

25%&of&children&will&have&CF&

&

75%&of&children&will&be&carriers&

&

25%&children&will&not&have&the&allele&

Possible&genotypes&=&Hh&or&hh&

&

50%&chance&of&children&having&

Huntington’s,&50%&chance&of&

children&not&having&Huntington’s&

3. A!couple!discover!that!they!both!have!a!family!history!of!cystic!fibrosis.!They!are!thinking!of!having!a!child,!and!they!ask!for!a!genetic!test!to!be!done.!Both!the!man!and!the!woman!discover!that!they!are!carriers!of!the!recessive!cystic!fibrosis!allele!!

a. Build!a!Punnett!square!to!describe!the!cross!!

& F& f&

F& FF! Ff!f& Ff! ff!

!b. What!is!the!percentage!probability!that!their!child!will!develop!cystic!

fibrosis?!!

c. What!is!the!percentage!probability!that!their!child!will!be!a!carrier!of!the!cystic!fibrosis!allele?!

!d. What!is!the!percentage!probability!that!their!child!will!not!inherit!the!cystic!

fibrosis!allele?!!

4. A!man!is!heterozygous!for!the!dominant!Huntington!allele,!and!he!has!a!child!with!a!woman!who!does!not!have!a!Huntington!allele!

a. Build!a!Punnett!square!to!describe!the!cross!!

& H& h&

h& Hh! hh!h& Hh! hh!

!b. Write!the!possible!offspring!genotypes!from!this!cross?!

!c. What!is!the!percentage!probability!that!their!child!will!not!have!

Huntington’s?!!

d. What!is!the!percentage!probability!that!their!child!will!have!Huntington’s?!!!!! !


! 35!

25%&children&will&have&hemophilia&

&

50%&of&the&boys&

&

0%&of&the&girls&# &&

5. A!woman!carries!one!of!the!defective!recessive!alleles!on!her!X!chromosome!that!causes!hemophilia.!She!has!a!child!with!a!man!who!does!not!possess!the!hemophilia!allele.!!

a. Build!a!Punnett!square!to!describe!the!cross!

!

& XB& Xb&

XB& XBXB! XBXb!Y& XBY! XbY!

!b. What!is!the!percentage!probability!that!their!child!will!develop!hemophilia?!

!c. What!is!the!percentage!probability!that!their!son!will!develop!hemophilia?!

!d. What!is!the!percentage!probability!that!their!daughter!will!develop!

hemophilia?!!

6. Sonja!is!not!able!to!roll!her!tongue!but!her!brother!Mikail,!can!roll!his!tongue.!When!Sonja!surveys!her!family!members,!she!finds!that!her!mother!is!a!tongue!roller,!and!her!father!is!not.!Her!father’s!only!sister!and!brother!cannot!roll!their!tongues!either.!The!two!grandparents!on!Sonja’s!father’s!side!are!also!non_tongue!rollers.!For!the!grandparents!on!the!mother’s!side,!the!grandfather!is!a!tongue!roller,!but!the!grandmother!is!not.!Develop!a!pedigree!for!the!family!described.!!

!!!!!!!!!!!!

7. Define!Mutation.!!

!A&mutation&is&a&heritable&change&in&the&sequence&of&nitrogen&

bases&along&a&DNA&molecule&

!8. Explain!why!a!doctor!may!ask!questions!about!the!history!of!certain!traits!or!

illnesses!in!your!family.!!!

Family&history&is&sort&of&a&verbal&pedigree.&It&may&indicate&

some&genetic&disorders&or&issues&that&could&be&passed&on.&


! 36!

9. List!4!mutagens!that!can!increase!the!frequency!of!mutation!!

UV&rays,&electromagnetic&rays,&cigarettes,&smoke,&pesticides,&

chemicals,&PCBs&

!10. List!2!similarities!and!2!differences!between!Punnett!squares!and!pedigree!charts!

!

Similarities:&both&deal&with&genetics,&both&detail&effected&

people&

Differences:&pedigrees&show&multiple&generations&and&

marriages&

!11. Despite!new!therapies!and!other!medical!breakthroughs,!cystic!fibrosis!and!other!

genetic!diseases!can!still!cause!death!before!adulthood.!Identify!the!significance!of!the!symptoms!of!Huntington!disease!not!usually!appearing!until!later!in!a!person’s!life.!!

&

People&are&able&to&have&kids,&and&then&they&develop&the&

disease,&passing&it&on.&Which&makes&it&more&likely&that&

children&will&have&the&disease&

!12. Explain!why!your!reproductive!organs!are!usually!shielded!with!lead!sheets!during!

an!Xray!!

Mutation&of&the&gametes&would&cause&defective&sexual&

reproduction&or&possible&mutations&in&an&unborn&child.&&

!13. The!royal!family’s!ancestry!is!well!documented.!There!is!no!history!of!hemophilia!in!

an!y!of!Queen!Victoria’s!ancestors,!however!her!son!Leopold!had!hemophilia,!as!do!3!of!her!grandsons!and!6!of!her!great!grandsons.!!

a. Explain!how!you!think!the!hemophilia!defect!appeared!in!her!genes?!!

It&is&likely&the&cause&of&hemophilia&is&associated&with&some&sort&

of&mutated&genes&accidentally&coding&for&the&disease.&&

!b. Explain!why!the!individuals!with!hemophilia!are!all!males?!

!

Hemophelia&is&an&X&linked&recessive&gene.&In&order&for&it&to&

show&on&a&female&both&parents&would&have&to&be&carriers&of&the&

gene.&Males&only&have&one&X&chromosome,&so&if&the&mother&

carries&the&gene&and&it&is&passed&on,&the&hemophelia&will&be&

present.&&

!!! !


! 37!

Topic&14:&Genetic&Technologies&

Mind&Map&Project&


!Create!a!mind!map!of!the!following!information.!You!are!able!to!work!with!1!partner.!!!Your!mind!map!must!contain!information!regarding!the!following!topics.!The!topic!must!also!be!applied!to!a!real&life&example…!(ie.!Cystic!Fibrosis…)!!

o DNA&fingerprinting&

o What!is!it?!o What!do!we!use!it!for?!o How!is!it!applied!to!Medicine!and!Gene!Therapy?!

!o Transgenics&

o What!is!it?!!o What!do!we!use!it!for?!o How!is!it!applied!to!Medicines!and!Gene!Therapy?!

!o Genetic&engineering&&


!o Bioweaponry&

o What!is!it?!!o What!do!we!use!it!for?!o How!is!it!dangerous!to!our!population?!

!o Gene&Therapy&


!!!!!!!! !


! 38!

Unit&A&Review&(KEY&FOLLOWING&on&Pg&45)&(Applicable&Reading&pgs.&145Q149)&

!1. Provide!the!word!described!by!each!definition!below!

a. One!of!the!heart’s!upper!chambers!that!receives!blood!returning!to!the!heart!b. One!of!the!heart’s!lower!chambers!that!pumps!blood!from!the!heart!c. A!thick!wall!of!muscle!that!divides!the!left!and!right!sides!of!the!heart!d. A!thin!flap!of!tissue!inside!the!heart!that!regulates!the!direction!of!blood!flow!within!

the!heart!by!preventing!the!backflow!of!blood!e. The!large!vein!that!collects!oxygen!poor!and!carbon!dioxide!rich!blood!from!the!

upper!body!and!the!lower!body!f. The!vessel!that!carries!blood!away!from!the!heart!towards!the!lungs!g. The!vessel!through!which!oxygen!rich!blood!flows!toward!the!heart!h. The!body’s!largest!artery!

!2. Complete!the!chart!below,!describing!the!differences!between!arteries,!veins!and!capillaries.!!

& Artery& Vein& Capillary&

&

&

Sketch&

&

&

! ! !

&

Role&

&

! ! !


a. A!cell!that!defends!the!body!against!disease!b. A!yellowish!liquid!like!broth!of!a!soup!made!up!mostly!of!water!with!substances!

dissolved!or!floating!in!it,!found!in!your!blood!c. A!blood!cell!that!contains!hemoglobin!and!transports!oxygen!from!the!lungs!to!the!

body’s!cells!d. A!very!tiny!cell!fragment!that!helps!seal!skin!cuts!by!initiating!clot!formation!

!4. State!2!similarities!and!2!differences!between!the!following!3!disorders:!angina,!heart!attack!

and!stroke.!!!!!!!!! !


! 39!

5. Determine!the!role!of!each!of!the!following!types!of!which!blood!cell!provided:!!Type&of&&Cell& Role&

!Macrophage!

!

!

!B!Cells!

!

!

!Suppressor!T!Cells!

!

!

!Memory!B!and!T!Cells!

!

!

!Helper!T!Cells!

!

!

!Antigens!

!

!

!Antibodies!

!

!


a. All!chromosomes!from!one!nucleus!matched!into!their!respective!pairs!and!arranged!from!the!largest!pair!to!the!smallest!pair!

b. A!sex!cell,!such!as!a!sperm!or!an!egg,!produced!during!meiosis!c. A!molecule!that!forms!a!twisted!ladder!shape!d. A!segment!of!DNA!molecule!that!carries!information!resulting!in!the!production!of!a!

specific!protein!!e. One!of!20!possible!building!blocks!used!to!form!proteins!as!determined!by!the!

sequence!of!bases!along!a!DNA!molecule!f. The!condensed!form!of!all!DNA!visible!when!cells!are!viewed!with!a!microscope!g. A!molecule!made!from!a!chain!of!amino!acids!that!serves!as!a!variety!of!functions!in!

the!body,!including!transport,!communication!and!regulation!h. Three!adjacent!nitrogen!bases!found!along!a!DNA!molecule!that!code!for!an!amino!

acid!to!be!produced!or!begin!or!end!the!reading!of!a!gene!!

7. Completely!draw!and!label!a!DNA!molecule.!Your!diagram!should!include!3!separate!components.!!

! !


! 40!

8. Drosophila!melanogaster!is!a!commonly!studied!species!of!fruit!fly!having!normal!sized!wings.!Drosophila!is!dominant!over!a!fruit!fly!having!much!smaller!wings,!called!vestigial!wings.!Use!the!symbol!W!to!represent!the!allele!for!normal!sized!wings,!and!symbol!w!to!represent!the!allele!for!vestigial!wings.!!

a. Write!the!possible!genotypes!for!a!fruit!fly!with!normal!wings!!!

b. Write!the!genotype!for!a!fruit!fly!with!vestigial!wings!!!

c. Write!the!possible!genotype!of!the!gametes!for!a!fruit!fly!that!is!heterozygous!for!the!wing!size!trait!

!!

d. State!the!phenotype!of!a!fruit!fly!with!the!ww!genotype!!!

9. Identify!the!key!characteristics!in!the!following!genetic!diseases!a. An!autosomal!dominant!disease!

!!

b. An!autosomal!recessive!disease!!!

c. A!sex!linked!disease!!!

10. List!the!basic!steps!involved!in!producing!and!using!a!DNA!fingerprint!to!positively!identify!biological!evidence!left!at!a!crime!scene!

!!!!!!!!!!!!

11. A!patient!has!a!blood!sample!taken.!Describe!the!possible!symptoms!a!patient!will!likely!experience!given!each!of!the!following!blood!test!results.!!

Blood&Test&Results& Possible&Symptoms&

!A!low!red!blood!cell!count!!

!

!A!high!white!blood!cell!count!!

!

!A!very!low!T!cell!count!!

!

!A!low!platelet!count!!

!


! 41!

!12. A!baby!will!occasionally!be!born!with!a!hole!in!the!septum!between!the!right!and!left!

ventricles.!This!causes!the!flow!of!blood!through!the!heart!to!be!disrupted.!Septal!defects!result!in!a!large!amount!of!blood!bypassing!the!lungs!as!it!leaks!through!the!septum.!This!impairs!the!efficient!delivery!of!oxygenated!blood!to!the!body.!A!small!hole!in!a!baby’s!septum!usually!closes!up!on!its!own,!but!larger!holes!require!surgery!to!be!sealed.!Babies!born!with!this!defect!are!often!referred!to!as!blue!babies!because!they!have!a!bluish!tinge!to!their!skin.!!

!Explain!why!the!skin!of!a!baby!with!a!septal!defect!might!seem!bluer!than!the!usual!pinkish!red!colored!skin!of!a!newborn!baby.!!!!!

!!!

13. Blood!types!are!determined!by!the!presence!of!antigens!on!the!surface!of!a!red!blood!cell.!One!type!of!antigen!is!called!the!Rhesus!factor!or!Rh!factor.!The!production!of!the!Rh!antigen!is!determined!by!a!single!gene!with!two!different!alleles.!The!Rh!positive!allele!produces!the!antigen!and!the!Rh!negative!allele!does!not!produce!the!antigen.!The!Rh+!allele!is!dominant!over!the!Rh_!allele.!!

a. Draw!a!punnett!square!for!a!cross!between!a!male!with!the!genotype!Rh+/Rh_!and!a!femail!with!the!genotype!Rh_/Rh_!

!!!!!!

b. State!the!percentage!probability!that!the!offspring!will!have!the!Rh+!blood!type!!!

c. State!the!percentage!probability!that!the!offspring!will!have!the!Rh_!blood!type!!!

d. State!the!percentage!probability!that!the!offspring!will!have!the!Rh+!blood!type!but!be!a!carrier!of!the!Rh_!allele!

!!

e. Individuals!with!the!Rh!negative!phenotype!produce!an!immune!response!to!the!presence!of!blood!cells!possessing!the!Rh!antigen.!Describe!the!action!of!the!immune!system!if!someone!with!the!Rh_!phenotype!is!given!a!transfusion!of!blood!containing!cells!that!are!Rh+.!!

! !


! 42!

14. Scientists!are!using!genetic!engineering!to!develop!pigs!that!incorporate!human!genes.!The!pigs!can!then!produce!human!antigens.!The!purpose!of!this!technology!is!to!make!organs!from!the!genetically!engineered!pigs!usable!for!transplantation!into!humans.!!

a. Explain,!in!general!terms,!how!the!process!of!genetic!engineering!can!be!used!to!place!human!genes!into!pigs.!!

!!!

b. List!one!risk!and!one!benefit!of!using!genetic!engineering!to!produce!these!modified!pigs!

!!!

15. A!karyotype!of!an!individual!is!completed!by!using!samples!of!the!individual’s!blood.!State!what!a!karyotype!distinguishes!and!explain!its!uses.!!

!!!!

16. A!gardener!crossed!a!white_flowered!tulip!with!a!red!flowered!tulip.!He!then!collected!the!seeds!from!the!offspring!of!this!cross!and!later!planted!them.!The!offspring!from!this!cross!grew!all!red!flowers.!!

a. Identify!which!color!is!dominant!!!

b. State!the!genotype!for!offspring!of!the!cross!of!the!2!parents.!Using!a!punnett!square!to!explain!the!results.!!

!!!!!

17. Examine!the!three!different!point!mutations!that!have!occurred!in!in!copies!of!the!same!DNA!sequence.!Identify!the!mutation!with!the!greatest!effect!on!the!amino!acid!chain!produced!relative!to!the!original!strand.!!

!Original!DNA!! ! AGGGCGCCGTTATAT!!!Mutated!DNA!#1!! CGGGCGCCGTTATAT!!!Mutated!DNA!#2!! AGGGCGCCGTAATAT!!!Mutated!DNA!#3!! AGGGCGCCGTTATAC!

!! !


! 43!

18. Tsarina!Alexandra!of!Russia!carried!the!recessive!form!of!the!gene!causing!hemophilia,!which!is!found!on!the!X!chromosome.!Tsar!Nicholas!II!did!not!have!hemophilia.!!

a. Construct!a!Punnett!square!to!demonstrate!the!cross!of!alleles!possessed!by!the!Russian!Monarch!Tsar!Nicholas!II!and!his!wife,!Tsarina!Alexandra.!!

!!!!!!

b. State!the!probability!of!a!male!offspring!from!this!cross!developing!hemophilia!!!!

c. Nicholas!and!Alexandra’s!only!son,!Alexei,!developed!hemophilia,!but!his!four!older!sisters!did!not!have!hemophilia.!Explain!how!it!is!possible!that!none!of!his!sisters!developed!hemophilia.!!

!!!!!

d. The!famous!historical!figure!Rasputin!gained!influence!with!the!Russian!royal!family!because!he!claimed!that!he!could!heal!Alexei’s!hemophilia.!Use!your!knowledge!of!the!circulatory!system,!and!genetics!to!explain!why!it!could!not!have!been!possible!for!Rasputin!to!cure!Alexei!of!hemophilia.!!

!!!!!

e. The!Tsar!and!his!family!were!assassinated!as!part!of!the!Russian!Revolution!of!1917.!Years!later,!a!woman!appeared!and!claimed!to!be!Anastasia,!one!of!the!daughters!of!Nicholas!and!Alexandra.!Throughout!her!life,!this!woman!maintained!that!she!was!Anastasia.!A!DNA!sample!from!a!piece!of!her!intestine!was!removed!during!an!operation!and!preserved.!This!sample!was!compared!to!DNA!from!the!royal!family!members,!whose!bodies!were!uncovered!in!1998.!This!DNA!comparison!was!used!to!prove!that!she!was!NOT!Anastasia.!How!can!DNA!be!used!to!identify!members!of!the!same!family?!!

!!!!!!! !


! 44!

19. During!the!process!used!to!create!the!clone!of!a!sheep,!scientists!took!the!egg!cell!from!one!sheep!and!removed!its!chromosomes.!An!autosomal!cell!from!a!second!adult!sheep!was!isolated!and!placed!next!to!the!egg!cell.!Electricity!was!used!to!fuse!the!two!cells!together,!and!they!began!to!divide!into!a!zygote,!which!was!genetically!identical!to!the!adult!sheep’s!autosomal!cell.!The!clone!zygote!was!implanted!into!a!third!sheep’s!uterus,!where!it!developed!into!a!baby!sheep.!!

a. Would!the!egg!cell!be!described!as!haploid!or!diploid!before!it’s!chromosomes!were!removed?!!

!!!

b. Would!the!autosomal!cell!be!described!as!haploid!or!diploid!before!it’s!chromosomes!were!removed?!

!!!

c. Would!the!clone!Zygote!produced!be!described!as!haploid!or!diploid!before!it’s!chromosomes!were!removed?!

!!!

d. Explain!why!the!chromosomes!needed!to!be!removed!from!the!egg!cell!to!create!the!clone!zygote!

!!!

e. Compare!and!contrast!the!process!of!cloning!with!the!process!of!fertilization.!!!!!!!!!

f. Even!though!the!cloned!sheep!and!the!sheep!from!which!the!autosomal!cell!was!taken!share!all!the!same!genes,!they!may!differ!slightly.!Explain!how!slight!differences!such!as!adult!size!and!behavior!are!possible.!!

!!!!!!!!!!! !!! !


! 45!

Final&Review&Key&&

1.&& a.&atrium&&

& b.&&ventricle&

& c.&septum&

& d.&heart&valve& &

& & e.&vena&cava&

& & f.&pulmonary&artery&

& & g.&pulmonary&vein&

& & h.&aorta&

&

& 2.&& Artery&–&pumps&blood&AWAY&from&the&heart&

& & Vein&–&pumps&blood&TOWARDS&the&heart&

&

& 3.&& a.&white&blood&cell&

& & b.&plasma&

& & c.&red&blood&cell&

& & d.&platelet&

&

& 4.&& angina&–&heart&spasm&causing&chest&pain&

& & heart&attack&–&blood&flow&to&part&of&heart&is&blocked&causing&damage&

& & stroke&–&blood&flow&to&brain&is&blocked,&causing&damage&

&

& 5.&& a.&Offensive&player&

& & b.&Coach’s&playbook&

& & c.&Defensive&player&

& & d.&Coach&

& & e.&Referee&

& & f.&Jersey&

&

6.&&& a.&karyotype&

& b.&gamete&

& c.&DNA&

& d.&gene&

& & e.&amino&acids&

& & f.&chromosome&

& & g.&protein&

& & h.&DNA&base&triplet&

&

& 7.&& a.&WW&or&Ww&

& & b.&ww&

& & c.&W&or&w&

& & d.&homozygous&vestigial&wing&

&

8.&& Deoxyribose&and&phosphate&create&the&backbone,&nitrogen&bases&stick&out&into&

the&inside&bonding&to&the&other&half&of&the&DNA&

&

9.&& a.&Because&it&is&dominant&it&only&requires&one&gene&to&contract&

& b.&require&2&genes&in&order&to&exhibit&the&disease,&however&could&be&a&carrier&

and&not&know&

& c.&present&on&the&X&or&Y&chromosome&

&


! 46!

10.&&

!!

11.&Septal&defect&may&cause&a&mixing&of&oxygenated&and&nonQoxygenated&blood&

therefore&the&infant&may&not&have&as&much&oxygen&being&transported&through&the&body&

&

12.&& a.&&

& RhQ& RhQ&

Rh+& Rh+RhQ& Rh+RhQ&

RhQ& RhQRhQ& RhQRhQ&

&

b.&&50%&or&½&will&be&Rh+&

c.&50%&or&½&will&be&RhQ&

d.&100%&of&Rh+&will&carry&RhQ&

e.&immune&response&(diagram)&

&

& 13.&& &Low&RBC&=&trouble&getting&O2&/&tired&

& & &High&WBC&=&infection&

& & &Very&low&T&cell&=&thyroid&issue&or&AIDS&

& & &Low&Platelet&=&tired&

&

& &


! 47!

14.&

&

&

&

&

&

&

&

&

&

&

&

&

CON&=&Transgenics&could&introduce&other&issues&such&as&an&immune&response&to&other&

possible&tissues&or&genes&present.&

PRO&=&New&cells&would&be&YOUR&OWN&human&cells&

&

15.&&& a.&if&you&take&an&immune&suppressant&it&is&easier&for&pathogens&to&harm&the&

body&and&it&is&likely&you&will&get&sick&again&

& b.&identical&twins&are&genetic&clones&of&each&other,&therefore&they&will&be&less&

likely&to&reject&them&

&

16.&Karyotype&determines&the&chromosomal&makeup&of&an&organism&

&

17.&& a.&RED&

& b.&Rr&

& c.&The&cross&between&2&Rr&type&plants&will&produce&25%RR,&50%Rr&and&25%rr&

therefore&75%&red&and&25%&white&

&

18.&& Sequence&2&will&stop&before&the&end&therefore&have&the&most&effect&on&the&

proteins&being&produced&

&

19.&& a.&&

& XH& Xh&

XH& XHXH& XHXh&

Y& XHY& XhY&

&

& & b.&The&males&have&a&50%&chance&of&developing&the&disease&

c.&&It&is&not&possible&for&the&females&to&have&the&disease&as&it&would&be&required&

to&have&both&parents&carry&the&gene&for&hemophelia&as&it&is&a&recessive&disease,&

females&would&require&both&genes&to&be&recessive&

d.&Hemophelia&is&the&inability&to&create&clotting&factors.&If&Rasputin&introduced&

new&cells,&they&would&be&killed&off&by&the&immune&system.&&

e.&DNA&fingerprinting&and&pedigree&can&be&compared&and&similar&genes&will&be&

passed&on&

&

& 20.&& a.&haploid&(1n)&gamete&

& & b.&diploid&(2n)&

& & c.&diploid&(2n)&

d.&if&you&add&diploid&cells&to&a&gamete&you&would&have&3n&present&creating&a&

disorder&and&likely&death&of&the&cell&

e.&cloning&is&asexual&so&the&offspring&is&a&genetic&clone.&Fertilization&combines&

the&DNA&from&2&organisms,&creating&a&genetically&unique&organism&

f.&nuture;&&traits&may&not&be&shown&in&the&same&way&

!

Documents

Mogck&Science&30&(2015)&& & KEY&€¦ · Mogck&Science&30&(2015)&& & KEY&! 4! Topic&8:&What&is&Genetics?!& (Applicable&Reading&pgs.&78Q81)& Chromosomes&are!strands!of!DNA!that!contain!the!instructions!for