Probleme Boli Monogenice

20
ft{r}3 a) Lur d r+6a bi G-{bi h rtui d! 1, ii, !i reia Grnbos,. r, u,), r laid h hqd d($rcjd i 16€ dr 3,rFiDhr. rhr ed i w! & rah D lrn bdEv r:^t'hi), ui snr {do! o ar. bhNi (Niokbx o hrEep hsdrda (s.ia o gI d! q nlwrii h ynd 6, 4edntoD { dobil, a s b,6d hr@!, ch@4hqd*or. or @ a ra6 r brqi bruli, o Fei. & ed.rc didg& (orad r@,$ ,i o 6ri !drvi), b rir@o'$ri! c*! dh io! h*;i&i Gsi 5cxl!6b@dp|hiv4i4 TcaEd.i$jhicl@*hcdr.0a!i6pId6l!? 3 cai !,c $dprlwnuuisobn d tuci sqii ! b: h^1 nir\r;, tae B) c!P[i bEa ho G&a6. h ir ;\iiui.-' aa ,a, a.7r"ry 1, v"^ r.rr".,. l*0, h -*'d" sd'rt a r6i. $ i.1cd,:. i"!r\ rtr

description

probleme genetica

Transcript of Probleme Boli Monogenice

Page 1: Probleme Boli Monogenice

f t { r }3

a) Lur d r+6a bi G-{bi h rtui d! 1, ii, !i reia Grnbos,. r, u,), r laid h

hqd d($rcjd i 16€ dr 3,rFiDhr.

rhr e d i w! & rah D lrn bdEv r:^t'hi), ui snr{do! o ar. bhNi (Niokbx o hrEephsdrda (s.ia o gI d! q nlwrii h ynd 6, 4edntoD

{ dobil, a s b,6d hr@!, ch@4hq d*or.or @ a ra6 r brqi bruli, o Fei. & ed.rc didg& (o rad r@,$ ,i o 6ri !drvi), brir@o'$ri! c*! dh io! h*;i&i Gsi

5cxl !6b@dp|hiv4i4

TcaEd.i$jhicl@*hcdr.0a!i6pId6l!?

3 cai !,c $dprlwnuuisobn d tuci sqii ! b: h^1

nir\r;, taeB) c!P[i bEa ho G&a6. h

ir ;\iiui.-' aa,a, a.7r"ry 1, v"^ r.rr".,. l*0,h

-*'d" sd'rt a r6i. $ i.1cd,:.

i"!r\ rtr

Page 2: Probleme Boli Monogenice

_9*. '-" i;;a"n*d a oa.t r!-si::+-!' roqg f'jrJt4{ 64n !dens!r '4 to ' : r , r ! - r ! j , - ,

" ** : r , . j l

@-****,--*. * -,,

,"r r.".. , !Y,,,,$*:i" ,**"* , rqm,.* ." " . . - . - a*; . : " , d" ; "" .

u 6d'af dottr. si n [d{r srd 6E isdMd 00

c! dtdi ddls! pqtu M3:re! dnd4s)

d"-."*,,*-i@Hi"':6'r*"'

Page 3: Probleme Boli Monogenice

f t i r r3 t

aJ .4!L roFn bi ({fto!. i ldii dc 4r arL) rj M&h (bdGL,, r di), f aq;G L

,d!s (v4D. '

b.ir brEv tNiqoiq€). o i4reruFre &h preri nfti' s! h{rchdr Grcia i liEd de r

$ri! tud dh m! nqrc;dd (3 4pdnet*ifti 'a!i0rdqchoB[qbdfl\u6!reo

o{chl i .d icg€0@hd:2Mhl iboh.n' ! i rondLied. (o fii, *dotri !i o 6d bhsa). k i pttd

$rh .{! dh iou istuchd, (slidi sdi & s rprbhi)

rb4briib@d!f! r[e0

i@n,lfusdli!6ortbsmbgiq

]ceftdipldd,p{lDatcet4dwdft*d

3c*$€gf ld ipu|erna!@eb[da

3) dp[r rorrcu h Gbrol h !r4! i. 4r oD ri M1r6 (!idid, ]7 !rD, * Fq ,, h

Page 4: Probleme Boli Monogenice

5, o hra rd,oss! ur enl !or!q ilt $6)r...!!Midrsri$EidiGen iGni & 4 Fr!'h')

i , ( ! ruv! , . i r r ! L ib iJ"hi

sireeL o 6ir. DdtL (qe !E o rd4c Gtgnni 4 6 lth !6eG) i u hid. vsG !trrir4

6hsi cridda). i PEz4r Eld nid di

p4or erhihd i*dE o0 {F&6,i)

T ceddiddd pgh d€@d@erclnn? r

.. c* *.;.ui,,.,.,".r"it '"

*" dc ewtrt a Ekr€:.te ! 6 s'ao6i1

,r' .q€d.ft{r uchqb&!sqw6pi:rebi? :

P Dd bdrd tqh e h 9s lrsid 4

,Lcc dk FmD, h fid & tor rt M

Page 5: Probleme Boli Monogenice

(vs,L), u, Mbr hoho (ori[), o turtrup@ & arcb,Moa lnc ir&hdi Gdd s cl & r{ uled i ;

aerroiduhhqinsr o&r6drqoj.d.b).o&( $t3tud dh !ar*dtrdGffi;itu 6r &sr

rmri i !6d d! 1 drdhht

fter brflyi E!r4 d4ic dh c4 ru rald: o lde & 8!noj diieri G ffri bha* !j u bdddd,Gt hr b fefr sri! e€ dh mu ris&.ju6 cach, h qd e ro spus.iD

lD4u|j&ortgqE]qiq

2 a lb & boni&odd cdr! ri nd&1r .edirdi prdd FiD e4@ &ncawdd! I

edlrie I !!. hi hla, d.. n ridb6,! J

3 D*. olbju !{ dq'oiju o rqsd

Page 6: Probleme Boli Monogenice

D) c4hr bE$n bD Gtuiis, h mEd de , a!) ri M.fu Gtonaq. r $t. n p@ ir, k

hs oftd&), o rrd sdbls! ur lrh lortuy hrd I i!po, M4 ! sr iftifthd. G{cia 4 rd

ro ri rr:d. s Eri & s&r ii6i (]nur Mfti rr td rui ron si rc0

riDaa 5b ic&.hd, G'qDa a .d & fx o6aLh, fi r&d & z srffi|

!si. .u 6r dr6, o rd lubd (odi!). i ,rbr sfl 6hd ih !@ iistuild Meh nd &

e' i .1 j | fuIdlgq€dqiq!

tu e6 siditsr ri4ruirkdl I.u. ec plblbiridd siriii tus &

'd!t, s Dddd, d! r r *ddn? {

escFo'j@lNofu,u|uiEti.i l

Page 7: Probleme Boli Monogenice

I '

TEsr \R ] .6

+. c4rd.&pedql&dJ4ra]-*qrrj"!.d_rEl+l!*ad+enailed

etu.6n' r o nr sdrc.n): h sed sd ftinnq

rcodllGehgjllddo6neiear.qdr$rDi

R.sdc|ihum,@defudl|i:

l 'DiuldoEL$Edqic66JidjnbdlnLofloljofitl

nos ii rqdtu s6mu Gldi dd6t

, .!@6€ gndinr geD4ibrrhrd

r, cudd bea bi GioaoE 50 uD t M&h (*nRusi. r0 mi) e prtld, pd,ru s6, sfldt

irq!!s! & arch, (fii tuasl o 6i, {

r $$nhi (n' & R\ n!sdh):

bDeb$fujndmjMrid0m' iodahft innhi) ;

Page 8: Probleme Boli Monogenice

. t . * i r1od. *r 'o Liq qi i rhr$as.r&

hE en.65e{ida & r {odndr (€' & ni .ri atr

lD.ssliebtL$idd!.6hsidsi'

? Dd Eid t Mbi6 i rst N @!ir, !&

iNn dh FF|4a @qLi an { ff dd. s dM ur

is. Nft ie decseiF moddi, dei rdli chlm.n h

Page 9: Probleme Boli Monogenice

r€.83 ttr

d) dprd lolr.s r4 ($dror ! vrd de { dl ri M@ Gioaosa 17 uD, F pdi€ r:

!@btiaftUdkDo!@jdMilElrcefududid

I delrlur rcr4! roi d kh I l& jd'o6q u]fu saoq vaib n h p€4 M,ir !#hs&dftdGmd ra*s&i d!de)

bn'ft"DiFdtu{ofu3!bbav!!44!@6 d e &hd ri o nd .tuiM

muc, uoh@. * o $ibh!4 bidq lee

$&q o tdboli'€ oriobl o turuptutudGdd o e &!{ltllldnv&dd! }rlrtu.tu)

Iqldeo'ddDi,.E46davj'db!6dqlMd6ohq61tdge,eo6

di.& r ahi r liiqi ehi, o lde de s@e d?i3or (o nd 'brod

'i o.!d br@dt iE

iprq4r $|! credi@i*lieu(lsbrofr ed rdiiihvd&2r srptud)ldd br@ rd ! ef dev n ! d*d

rl4c4' lou b Fphri. fio Doo

r Ddd4i d.sdotq

6'ce!sPdinidssdihc$d.ft|uli.lDddqea6lMdl

r & !tu isol bi Gr6,!r. d. rBu qi dldd

3 clE !*! @dpr edd *ob d tu6 soFi I rd bd

0dMl.o|ddo8sdbFFj ' !8!JE\. f |6fus

I0!uv4leelvaotb|.id4iljd

0d$ng?&&e{dhiirud,ddtdltdmi]l

B) c4Li r()IEw b Gtoror h *n! & 4? ei) ri Mda (dotsi 37 dl E prdd hhoFedot4i ! !M! i ! i5ancd4dahrr4nnbl

Page 10: Probleme Boli Monogenice

4dEdq I dddd rrvr u $rd rto&6 (!odo, o tu! stoibE. $ i @!ft rsh en,i .s !u ' ( !eai ! . |Ee-3sPhdl

r@ eq o u6 d E4 qqi brGwt ddlid q wqhr3u4d4 v4tu, qe * les(ndd! d n* d mlsa Era.t Di u

0rbrda) $ to p&d* Eqa es tu&liud (4 dprffi) tua d@i nlr de ui tuc md 4iqsdh,didoohd.sb6sr,([email protected]@u'dd1apitub!!6a!iGe4b

! b!(I'dLir@ jdMddn4o cbsbebctu&od a o ndtr ffba:, .&tud6 did.d s imb 2.ei tur! E bdat i o i,a o

lud oroii t hi rd 6i hi b sd tu&odi mri u dl@' toF@ ed{t d, dohiq!,6eF 6d b popLF u0 @o

5c4*sctdpdldvdL?4 cs*seiribb @dib o4 icsdu& rE@( &i 6 tu&oult7 tu * dd ii GhlodE de a !s @ 6pr !fu?

pdl@hiq*t6 ' !@bbrd9!!Eo!@il

Qc@d&@dpdrd€id4e&fuIgb1

nGd!P€Eo@ine&IdJiMshnn&neddsldld!r!n!]r'd4id6!cc6qik

Page 11: Probleme Boli Monogenice

7!

r, -add !oss!r!!!4s1,.1.0-ej!l]!l!!qci!i1qri.:5 ia) !, Fe,e !e41iq.91c!:,

G! . fo! idid dih'n .u o neh rfitn* v@[q eitun! dm @! u tqh o nd

sdo6t d tsrcde de sffii dtisoli (u btu tut ti o nd n'd$i Ioi &e o sd m !m,

!14 srtu6{ cHdd a u ftd sdrs E d 2 bli!.d ri I rdq sdqi. ui tsia 6obav 6t Ji

ldli i luibEndl#rndinu!lncdM.

.hrs ru! rqrd uddi @ti o tor

Fd&alneisebadd!3dpdnd:

reFod4jLud'odifub&i.r !c!@n dd 4dodq6rdd dnhdfr @46ljodq

,2cei ip&fufu<#hndF

dbtu @da!asldi Gftidtud)!

.,fu.de3dPl$maldvilali!

,r0ce!d.$@endDdFobdil'1N

e'is!rededdedalisoft:',eidn.bfld.b

D. .qhr b!6o b! Gtoio, 50 D4 ,! M! (nDao6[ 30 ot & Pldi rhN $r Fdp

Pnad3mh!hatr&Nlul,cbjd

ifrhrc & rdB. (tu sud): o 6ii nd

r0$rdd(e&!dsErurtr),

b' es uebi1ro,@ d kd (b! ji llwr Mind M h!)l

Page 12: Probleme Boli Monogenice

hi lt o sd Dd r&c tu (fs'r udr.t. 5b!b6! ddrod fl u tud srtib< Fi ,i

Mda!foudElbfuLd!,b'b'Ghseledlididdi!E&6fu!, 'EoaEb!aEt

dFd o dF. @csd a u u6d s#roq Mhd opb dqr ubtu a ea ctudii d eo4c

bobvi o f!! s6!@ bn:4 h eied Bb!.si3kiild de I dped (rd & u ftninii)]

rtuEhodtuib*i

[email protected]|ru4addbdd:

r D@ari abd€ esdosio tuobd bbtunc @rclsoe:

3. crdrddidoft lbdFhun1'etu8*?4fudefuisdihdd!.6d!!co' lcd,

t Dd h' riMhd & fi id m 6!il @

di' !@darja 3ffid4 @ { ff jusb d dbr uo

[email protected]@dpdE!d,!

rd k !$ Fdd lwtudLiqdr,

ulis!e&&Eddmnj,d.dt.b!r.d.i4jL

Page 13: Probleme Boli Monogenice

ri us & .$bln a kid $ rE d€ddr, h ffdrir lor

laid @ tu stobq o nd .frbd n b F.4 ki. d lfud (.!d rn €d de 23

b!!6iiiddletu o o Gdde rMbla cI@. dh m N @\4 3 b.ci sdbn,i ,

4 pqgr@: ufu| d! E ira b6' Dd4d{rd@o@etue4dlFo&c&ru j.,fu2 dli 3Mb,i (d r6d $ o a6 _ dL}o

.*!d;d$0nd!'o}bshcbob.l'd!@od!d! d4i&s q o ed.ie lob€ Bb4 ldde dh a€ dr reartdi 2 eild hordvi, E en

sop! de&n'ishild(ddbv&d&Friprdd)

N8Fb.i Em.6rbbadrirda

FEcL!trE bos h p4d& ,r @

3'clddlFndFh'k@&!@vN!l

r cs€ *! ed br6ndsh &; sd un o,r d6hr!3ca.d!@dan!d[dFobbldm

plEr *&os! irji po4rda sedd @e & i p*b rq

e n$ Ee e d!$doi amd! dd iabur. d@4i h

B) currd b'!$ bD Gbrot jr vhi de 4r ai) ,i Ma t,tu6n r di), s F@ri Li aG & 4dqj€ r Mrti q n. dddi, rbin br

Page 14: Probleme Boli Monogenice

rt!rcdldd aupldqir.raLwbiia 6bi o 6r. sidcri !!biftehavffid I hredluld

btr !i M. turt Gd d sadll idi (ffi. Mcj.i ri ldur rui Iq $r frlF)

Tdnhj16!rof i 'ddcdfr i lo ' !

sturli o r.s, lsLel Ge & o dad€ d€eiid o u btrn s&d i ui bih!, v*iro. u6q d

a dihnd d s{ @od o o tuh 3tutu!5r, !&aode db c@ 4 d@ ? 4n g@n alm {i

bh,s (Ni@lda), h pFd B{;6od & eu htui3r!. kcdtoy&d de 14 dFbd

futceuitnddqGqbibdEa

iuialdrhr€1i6ob!otubdevaipl.dqtutudbtu(rofprld)

Bdd atu d rli rd ri \,t&i. o rbs lb&oii asbii !u dd& tu{! d&d d! tur,Fq

'Dd@do"Leos4i

3 ccdhddeddrdtu aLso@{@{

le!dsdluld&trfuiE|@i,

-cr lddc@!!e! t€J@D' '6

3 cm e s4@Fr slubiDudl

e. Dd e 'de

btulr4 *. s t rm&t Dddd & i aE u @!d lMoe

r0'adfu|dgbldI@BedflvesFddNrc|@w€[trdlqd.]ag

n ceeraso@ide&b r i6!otucne & eddF momd, @ rtue

Page 15: Probleme Boli Monogenice

A) c@hr P4€d to! (nlfroc io vM e 4r at) !r Mln o&iri r et, $ pErrd h@t4iePem!efula3efuh

d (v8i1r, D bfid boLe (ontuI o 6eREe de s.jii

ron a id biJjd ieftdi a o Gde !bbr.r, dd. did €e & ar13 bljori ldqi i 2

d56 d o rdd. 6&oe.. dde d ce 4 rqn@ u! b!j! ffir ri ! bd boiar or@hl o@fr sda nhd & @ btud (&hr d 6i dc s

r.dhr Yrdr de a dpMd).

Mdidftodlfibd!iufurtbo1e!'[email protected]

ftndttuhrdsdn dda@ub&jdG'ddi*ci&r0sglntoj)p&irdi Msid: nad. ron bohld n ! {@d 1! !&$ & s

-! d de e&s

rltsrts bdii iipoldllje ,r M0

r D6@! dodsdahsiq

j crc lne sediod ru D!dd?

TcGe'enolLic&dgh&!e!EsDldr,&1

w6r sld do Popd! 8nd.ri er n tr nwr

Page 16: Probleme Boli Monogenice

B) oprd b,qu bo Gtoiiol b drd de , d) ,i Mrd! Gb&o6r, 37 st, s sdn 6

:6s odhro, o firi tues, ni bhd 6!:a h6d !i ii

Fde' Mda.* iedi.6 Gdd a ft & s rdh i! @n6 & r npd6i)

briMrrulEi&sdidi(E!@Md'ibdrbihsfr nr'j).

bi * o $d mn @ bbdr, Ddd4 E e o Eralie adldid au hlba bobsa dFrdb.roEab,eiqi6ohi,o6€bb!.l

rdd! !e i!.tr'.6 (ftid o ft e !d tururiA i vdde?4 drtutoi)

tur ofir #oq o nd Nod (orjir, i FedBru tud dji tu6sdid @j! dde

Bddi @@d i M r4 n k!. D 64 6h'i dr & ded 1* @ rddd d€ daFrFrc'dF bbi to FFhdq r[ d0.

1 Nruf qb@L sdosiq

5.cd..d.@'pdLi$luhiEhldl

@4.;E' i6aebe!A64kPJful

9MN@k!.a61&d@!e9P1

tce*@'iPd!rcfuufuil|@I

rL. q db plEod. i ei & b! !i Ma @ tu Drc & &FdmF md! dd lde

Page 17: Probleme Boli Monogenice

!) clphr roF$ btr (bdm\ i! ldj d. 4: !d) ri Mdi Gbeqs n &t i pEzhd k

bohl (v4iL) o rai tu&o6a ri h pqsi vbr 6ris&riMi Gsod o ii & s r!fth. i !e, & ?3 s,Ftud)

roi aron i'nFd dlao 4otdd.hh.

,girod.ofilfoii@laDech,!fteo

ard! d€irini { F ebd sdoc d4ie dh wr 3! dbr I 6!ii $ndr: Gn bi F o tu). o

Du[ a 6rd di io! td&ci$d (3 drtimtu]

Iosaj !eufue'?,srgi ! ,bohr,e

c dugd (o tu. sifto*! n o h{ bordw). o @

rtuErGdopd! bip'!ar Eia e'! dhiouhtuld 00 {p,hd)

?d4nLiI@ad!rdbh8l,i.d6.d

lDsuli6dcgddogio|oblidn6!o'd6{aqJildq

r Dd bdda !e dbi q u btbd +tu qes db F@r4! 3!nsr! d. r n tuar br di a

3 cd * dsrhidr4reh:d! a e. w 6'l arrdd

( Did e6 sbndsi ddrdi d! cModl

r cedrpee4eidddets!rhd!{is'!ed.dewdrrjucE![dldrcb6erth:t L

l) apri I6€d Io! Gtts, i rtna de !2 qt i Md Ghrbar, t &i), s Prciod h

Mdhl ie! .h!J! iq|asEci . l joc&{ohd.!Mddg6ed€da6' i .o i ibI

Page 18: Probleme Boli Monogenice

d€li r b,ir 6ec o 6i sbrac (a

!i 6Eiihiw&ni&i *Fh6,t

nai r{e d nans $Ll DD rced d{roie N rt4rk u! iiht sbros 11{u), o ird bh$ ,j h! n.sb (:4 jaFaodi). eha dso 4{ qe o sE oa&o!, dsb'i! di aE e er* I @pri *r!q:! Mea i

!! Fnq bD (Dand. ro. $ri sd) ch@ek *rcdadE4|n,@.ii*iao$,Wbd''ioraiiPea,|

ki! nhd i&iGs {r0 siptuioi)

Buoidr mur { rut&o n Mda h 6n sto

sd6 @rqi! ss6d4 k &nd$r d &.

r 'c*edd[ i fu€lcdeaaED6Piddai

a

Page 19: Probleme Boli Monogenice

{).4! PlPrq q (mq I id\. e 4l".J I

M!l,r !,!r4.L-1"!!l ! Fqtua r"

&i4i hn 5i M& !q s Mhr sdbs (v!it), o tui ehdd ji i ,tur ka ed. is:rciidi*eoM a n' !. * tuiiiq i0 rdni & $ *!6ad)

d€ o ddr ersjrini s o rmln nDa4!4 41ie dh ce o @r* 2 @pij *&qi G! brii ,j o6d). o itupse d. nrcb, o ,r sb.bt i FQd qi! 6id did mu iistrnld (s {pnhbD

Md 4d e o !d Dj nic{ ErD, bh4{ {niid d u !&b* sdros chlqgrc(ldhi), o p@b! & e!rc dii&E G h, @!od 5i o

ra€ bhaql, o ftrh ddc Gdq}ndt j! i F*d !i. .ft dn 'o!

n&.nai o0 s!/.Dad, e

l.Ib|iMaid:nd!6fbih*nad@l

rr€cvc,lr bh ir Fpht. rh tu

r. DB4at ub.h @doeic rdblhd jErorudb ftnnrodq:'cedP&!dryndddfofuli. '

7c@.,.B.m'ieuili ifupdie$dd!&lid16Dddl

alssl@ddFpdgl i lgsgd4.eu6

u 4od +041i o rd bs' rj o nn bhd {&s).

Mldaln o*i 3r d), *,ntu h! Msri n 6e d.dai ir mdii ro,

DDUd&!' 'ebdoW!$ts!ffd,6q!en6

E) .upbi ron!4 &o Gtoaor 14 y&56 & 41 ei) Jj

Page 20: Probleme Boli Monogenice

i!&s o tu n,iesi Ni6<!) jj i !r4r qrj sE

?d (rdja) ,i ui b.n bdEv ind 4 p!*ar iL4 *rcisfthdr sci. hLtud& ! 54lrtuei

b d. o sri Da ij.t Ddd. bojowi d*bid $ udir sto p,ieo, 6eo4hq $!brtn'de Dai

^ic , ndli bddd) Db ,ed.tu\m. e Iarur : @pii e,rqi, u Md (o!a!u) ,,

oo 5arbioi) psdi D4ilLi dd 4c airas ,rn:(!dsb)aroneh*nadddLlina&6: ui B!!dodenj!iDhiddeftsqdbi

ro ri Mda $fr y6Fd & end! 6ui (nds Mdd es ei d uc ! adj ruj bd&t, obi e d.d! i!r-h:d&n & .ihhli

IlffifboljhFe!4i'D'o@,

r. Dee@, nlqde3qddq

jcd.deeao6'dfuisrnuiELdJ

?Gideiulfuicb4bde..&su@piedl

4d 5a$ & @Lna eldi @! s E,o$fud|od!rlg0rcpidm,3d

r cc eodo@n&r &h* @i, a tuo& e dffi&i! rrcm!4 der rturc