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Darius Goes West

A study of Human Genetics and Disease

Day 1

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Why do I look the way I

do?

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http://www.lwtech.edu/ima es/Acedamics/!ocial"2#!e$%ices/!ocial&Human&!e$%ices&G$oup.'p

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It(s all in you$ genes )not 'eans*

Inside the nucleus of e%e$y cell ofan o$ anism a$e st$uctu$es calledch$omosomes.

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D,A-h$omosomes a$e

made of ti htly coiledD,A ) d eo y$i o n ucleica cid* molecules.

D,A is the maste$ copyof an o$ anism(s code

When mitosis takesplace0 D,A is copiedand passed to new cells

D,A cont$ols theacti%ities of cells

%e$y cell contains D,A

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GenesGenes a$e sections ofD,A.Genes cont$ol thep$oduction of p$oteins

in the cells.3$oteins dete$minethe traits of ano$ anism.Humans ha%e 2+

pairs ofch$omosomes fo$ atotal of 4 )do themath*

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4What a$e enes? 6 %ideo

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)7a el dia $am as $e%iew f$om Day 1*

Day 2

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Day 2

,o$mal D,A !t$uctu$e D,A is in the shape of adou le heli . twistedladde$

8he 9hand$ails of theladde$ a$e two twistedst$ands of su a$ andphosphate molecules)hand$ails*9!tai$s of the ladde$ a$emade up of moleculescalled nit$o en ases

kinds of nit$o en asesincludin adenine0

uanine0 cytosine0 andthymine

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,o$mal D,A !t$uctu$e

,it$o en <ase 3ai$s:

◦ Adenine only pai$swith thymine

◦ Guanine only pai$swith cytosine

<uild a D,A model :

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What disease does

Darius have?

How did Darius get thisdisease?

1#

Day +

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Whe$e did my t$aits come f$om?

11Each human sex cell has 23 chromosomes. Whenthey join, the ofspring (you) has 23 pairs, ½ rom

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All of my family mem e$s ha%e$own eyes0 mine a$e lue>>>

y new a y siste$ has $ed hai$0the $est of us ha%e $ownhai$>>>>.

y mom and dad a$e $i hthanded0 I am left handed>>

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<@8>>>>>..

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Human inhe$itanceA num e$ of human t$aits a$econt$olled y a sin le ene with 2alleles )one f$om each pa$ent*

8he 3unnett sBua$e can e usedto p$edict the p$o a ility that ano sp$in will ha%e a speciCc t$ait.

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om and Dad oth ha%e $own eyes )<*0 ut theyoth ca$$y the $ecessi%e allele fo$ lue eyes ) *.

-ould thei$ o sp$in ha%e lue eyes?

-omplete the sBua$e to Cnd out

< Dad

<

om

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What(s the p$o a ility of the o sp$in ha%in$own eyes? <lue eyes?

A$e mom and dad homo y ous o$hete$o y ous fo$ eye colo$?

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How is ende$dete$mined?

-h$omosomepai$ E2+ a$e these

ch$omosomes. 8hey a$e theonly pai$ that donot match.A i$l has 20 Fch$omosomesA oy has an F

and a 14

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<oy o$ i$l? 8he answe$ is inthe 3unnett sBua$e

1

What is the p$o a ility that the

o sp$in will e a i$l? A oy? ideo

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D,A utationsA mutation is a chan e in theD,A seBuence of a ene.

utations can e◦ 1. AcBui$ed when an en%i$onmental

facto$ dama es D,A.◦ 2. Inhe$ited f$om pa$ents

!ome a$e ha$mless0 othe$s cancause diso$de$s/diseases

1;

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Ha$mless D,A mutations

1=

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Genetic Diso$de$sA enetic diso$de$ is an a no$mal condition that ape$son inhe$its th$ou h enes o$ ch$omosomes.

Just like physical t$aits0 enetic diso$de$s can alsoe passed f$om pa$ent to o sp$in .

Genetic diso$de$s can e caused y1. utations in the D,A of enes2. -han es in the st$uctu$e of

ch$omosomes+. -han es in the num e$ of

ch$omosomes

2#

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Kecessi%e diso$de$s

3assed f$ompa$ents too sp$in when

oth pa$ents a$eca$$ie$s of thediso$de$.3a$ents may notknow they a$eca$$ie$s

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Kecessi%e Diso$de$s-ystic Li $osis 6 ody p$oduces a no$mallythick mucus that Clls the lun s and makesit diMcult to $eathe.

!ickle -ell Anemia 6 $ed lood cells a$esickle6shaped instead of disc6shaped. -ellscan(t deli%e$ enou h o y en and clo lood%essels

8ay !achs Disease N fatty p$oteins uild upin the $ain dest$oyin ne$%e cells in the

$ain and spinal co$d.

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!e 6linked $ecessi%e diso$de$s

Inhe$ited conditions that a$e linked withF and ch$omosomes

◦ Hemophilia N <lood clots %e$y slowly o$ not atall. Occu$s mo$e f$eBuently in males

◦ Duchenne uscula$ Dyst$ophy N p$o $essi%eloss of muscle st$en th that e%entuallya ects the hea$t and lun s. It caused y alack of the p$otein0 dyst$ophin. Occu$s mo$ef$eBuently in males.

2+

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-h$omosomal Diso$de$s

Down(s !ynd$ome is an e ampleof a ch$omosomal diso$de$A pe$son with Down(s synd$omehas an e t$a copy of ch$omosome21.

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Genetic 8estin 8oday0 medical ad%ances ha%e de%elopedsc$eenin tests fo$ many enetic diso$de$s.

Puestions to ponde$>>.◦ !hould couples who mi ht pass alon a enetic

diso$de$ to child$en e tested to decide whethe$o$ not to ha%e such child$en?

◦ !hould people e tested fo$ enes fo$ a futu$ediso$de$ if the$e is no cu$e a%aila le fo$ thediso$de$?

◦ -ould someone e disc$iminated a ainst yemploye$s o$ health insu$ance companies if theyhad knowled e of the e istence of a diso$de$?

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