Genetic Disorders Webquest

A. Sickle Cell Disease

Name marge simpson Date 12.10.2013 Period 7th / 8th

Go to: A Mutation Stor ! a P"S #ideo $%ip a&out ho' the gene (or si$)%e $e%% anemia has had &ene(its in the hetero* gous (orm. +at$h the #ideo and ans'er the ,uestion. 1. +hat does the si$)%e $e%% mutation prote$t against- MA.A/0A 1se http://'''. g h.org/si$)%e/'hatisit.htm to ans'er ,uestions a&out Si$)%e 2e%% Anemia. 2. 3o' is S2A inherited- +hen the (ather $arries an S gene and the mother $arries an S gene4 i( the t'o genes $ome together the o((spring 'i%% ha#e si$)%e $e%% anemia 5/e$essi#e trait6 3. +hat happens to the red &%ood $e%%s o( indi#idua%s 'ith S2A- 7he red &%ood $e%% $an &e shaped strange% and a%so mo#e strange% . 7he are si$)%ed4 sti%%4 and sti$) and $an $ause se#ere pro&%ems in the organs. 8. +hat are some o( the other s mptoms o( S2A Some s stems are pain in the &%ood #esse%s4 the &%o$)ed #esse%s $an %ead to sp%een4 %ung4 and heart damage and stro)e. 9. +hat t pes o( treatments are a#ai%a&%e to those a((%i$ted 'ith this disorderSome treatments $an &e a &one marro' transp%ant or ta)ing the h dro: urea drug.

Hemophilia
Go to: http://'''.hemophi%ia!in(ormation.$om/ Se%e$t ;3emophi%ia "asi$s< (rom menu on %e(t. 1. +hat is hemophi%ia- 3emophi%ia is an inherited &%eeding disorder that a%most a%'a s a((e$ts ma%es. A person 'ith hemophi%ia has %o' or non!e:istent %e#e%s o( &%ood $%otting protein $a%%ed (a$tor. Go to ;Geneti$s< 2. +ho tends to get hemophi%ia- MA.=S 3. +h - >!.0N?=D D0S@/D=/ Go to ;7 pes< 8. Des$ri&e the %e#e%s o( hemophi%iaa6 Se#ere 0A ! 1A (a$tor %e#e%. A&out 80A o( hemophi%ia su((erers are $onsidered se#ere. Se#ere hemophi%ia su((erers 'i%% ha#e e:$essi#e &%eeding a(ter inBuries4 surger and $an a%so ha#e spontaneous &%eeding episodes. 7he $an a%so ha#e Boint &%eeding and pro%onged &%eeding into the mus$%es4 sometime times 'ithout the personCs )no'%edge. Doint &%eeding $an $ause Boint deterioration and arthritis do'n the road. &6 Moderate 1A ! 9A (a$tor %e#e%. A&out 10A o( hemophi%ia su((erers are $onsidered moderate. Moderate su((erers ma ha#e spontaneous &%eeding episodes and 'i%% pro&a&% ha#e pro%onged &%eeding a(ter inBuries. $6 Mi%d 9A ! 90A (a$tor %e#e%. A&out 10A o( hemophi%ia su((erers are $onsidered mi%d. 7hese peop%e ha#e pro%onged &%eeding a(ter a serious inBur 4 trauma or surger . 0n man $ases4 mi%d hemophi%ia is not dis$o#ered unti% there is e:$essi#e &%eeding a(ter a surger or inBur . 0n (a$t4 it ma not e#en &e dis$o#ered unti% adu%thood. Go to ;7reatment<

9. Des$ri&e a#ai%a&%e treatments (or hemophi%ia. 0n(usions4 or Ports 'hi$h are imp%anted de#i$es that a%%o' a$$ess dire$t% into the #ein. 7he are usua%% used in &a&ies and in(ants needing regu%ar in(usions. Go to ;3istor < E. 3o' 'as /asputin a&%e to gain undue in(%uen$e o#er the ro a% (ami% o( /ussia7he mon) /asputin gained great in(%uen$e in the /ussian $ourt4 part% &e$ause he 'as the on% one a&%e to he%p the oung 7sare#i$h. 3e used h pnosis to re%ie#e A%e:eiCs pain. 7he use o( h pnosis not on% re%ie#ed pain4 &ut ma ha#e a%so he%ped s%o' or stop the &o Cs hemorrhages. 7. 0n the 1F80s4 'hat happened to peop%e re$ei#ing trans(usions due to tainted &%ood"%ood storage 'as not pra$ti&%e at that time. .i(e e:pe$tan$ (or peop%e 'ith hemophi%ia 'as 13 ears a%though some %i#ed %onger.

B. Tay Sachs
Go to: http://'''. g h.org/ta /'hatisit.htm 1. +hat $auses 7a Sa$hs- 7a !Sa$hs disease o$$urs 'hen the &od %a$)s he:osaminidase A4 a protein that he%ps &rea) do'n a $hemi$a% (ound in ner#e tissue $a%%ed gang%iosides. +ithout this protein4 gang%iosides4 parti$u%ar% gang%ioside GM24 &ui%d up in $e%%s4 espe$ia%% ner#e $e%%s in the &rain. 2. +hat is the treatment (or 7a !Sa$hs- Present% there is no treatment (or 7a !Sa$hs disease. Anti$on#u%sant medi$ine ma initia%% $ontro% sei*ures

D. Down s Syndrome
Go to http://'''.)idshea%th.org/)id/hea%thGpro&%ems/&irthGde(e$t/do'nGs ndrome.htm% 1. +hat $auses Do'nHs s ndrome- Do'n s ndrome 5or Do'nCs s ndrome6 is a $hromosoma% disorder $aused & an error in $e%% di#ision that resu%ts in an e:tra 21st $hromosome. 2. +hat is %i(e %i)e (or $hi%dren 'ith Do'nHs s ndrome- Man )ids 'ith Do'n s ndrome go to regu%ar s$hoo%s and ma attend regu%ar $%asses. Some need spe$ia% $%asses to he%p them in areas 'here the ha#e more trou&%e %earning. 7heir parents 'or) 'ith tea$hers and others to $ome up 'ith a p%an (or the &est 'a (or ea$h $hi%d to %earn. 3. Des$ri&e $ommon hea%th pro&%ems asso$iated 'ith Do'nHs s ndrome. ?ids 'ith Do'n s ndrome are more %i)e% to get in(e$tions that a((e$t their %ungs and &reathing. +hen the do get in(e$tions4 the o(ten %ast %onger. 7he ma ha#e e e or ear pro&%ems or digestion pro&%ems %i)e $onstipation. Some ma de#e%op %eu)emia4 a t pe o( $an$er. =a$h person 'ith Do'n s ndrome is di((erent and ma ha#e one4 se#era%4 or a%% o( these pro&%ems.

!. Cystic "ibrosis
Go to http://)idshea%th.org/parent/medi$a%/%ungs/$(.htm%I 1. +hat is $ sti$ (i&rosis- 2 sti$ (i&rosis 52J6 is an inherited disease that $auses the &od to produ$e mu$us thatCs e:treme% thi$) and sti$) . 2. +hat $auses 2J- 2J o$$urs &e$ause o( mutations in the gene that ma)es a protein $a%%ed 2J7/ 5$ sti$ (i&rosis transmem&rane regu%ator6. 3. Des$ri&e 'hat the de(e$ti#e 2J7/ protein does- A person 'ith 2J produ$es a&norma% 2J7/ protein K or no 2J7/ protein at a%%4 'hi$h $auses the &od to ma)e thi$)4 sti$) mu$us instead o( the thin4 'ater )ind. 8. @n 'hi$h $hromosome is the de(e$ti#e 2J gene (ound- 2 sti$ (i&rosis is an inherited disease $aused & mutations 5$hanges6 in a gene on $hromosome 74 one o( the 23 pairs o( $hromosomes that $hi%dren inherit (rom their parents. 9. +hat is a $arrier- Peop%e 'ith one norma% and one de(e$ti#e gene.

E. 3o' man $arriers are there in the 1.S.- 12 mi%%ion Ameri$ans 7. +hat are the $han$es that 2 parent $arriers 'i%% ha#e a $hi%d 'ith 2J- 29A 8. 3o' $ommon is 2J in 2au$asians- =L7/=M=.> in A(ri$an Ameri$ans- Not as $ommon in Asian Ameri$ans- Not as $ommon F. S$ientists ha#e e#iden$e sho'ing the 2J gene he%ped prote$t ear%ier generations (rom G it he%ped to prote$t ear%ier generations (rom the &a$teria that $ause $ho%era4 a se#ere intestina% in(e$tion. GG 10. Des$ri&e a#ai%a&%e treatments (or 2J. =n* me supp%ements4 drugs that he%p &rea) up mu$us4 anti&ioti$s4 i( needed a %ung transp%ant $an &e used.