RECAPITULARE GENETICA SEM I

Dogma centrala: ADN -> ARNm -> PROTEINE

Diferente intre ADN!"# $i ARN!%# : "- &'l& catenar(contine )
e*o+iri'o*a(contine introni(molec&la foarte $ta'ila(molec&la )
l&nga(contine timina,% - monocatenar(contine ri'o*a( NU
contine )
introni(molec&la in$ta'ila ce $e egraea*a foarte
&$or(molec&la mai )
$c&rta ecat cea e ADN(contine &racil,
O gena contine introni $i e+oni,Nr introni)-Dnr e+oni-"
" GENA )-D " PROTEINA ...
ADN -> ARN /reme$ager!tran$cri/t /rimar# ->ARNm!tran$cri/t
$ec&nar#,
)-DORGANI0AREA STRUCTURALA A ADN-ULUI UMAN)-D
-- ori "1 la /&terea 2 !- miliare# e /erec3i e 'a*e,
-Coloana 4erte'rala fo$fogl&ciica,
-Lant&ri laterale : 'a*e a*otate)-D /&rine5 /irimiine!/&rinele
a& % )
cicl&ri iar /irimiinele a& " cicl& e atomi e car'on#
-Sen$ e citire(&/licare $i tran$cri/tie: 6/rim -> - /rim,
-Con$tit&ienti /rinci/ali: ri'o*a /t ARN $i e*o+iri'o*a /t ADN,
-... ACGT(U /t ARN,
-Str&ct&ra e 'a*a a ADN:
NUCLEOTIDUL)-Dgl&ci5fo$fat5'a*a a*otata,
-ADN: &'l& catenar!com/lementar#&'l& 3eli+(anti/aralel,
A)-DT 7 C8G : 'a*e com/lementare,
-Reg&la 9at$on-Cric: : nr A)-Dnr T $i nr C)-Dnr G,
-;i'rii*area are loc /e 'a*a com/lementaritatii 'a*elor,
)-DCODUL GENETIC)-D
Unitatea e 'a*a e$te CODONUL format /rin $&cce$i&nea a -
n&cleotie,
" CODON)-D-NUCLEOTIDE)-D"AMINOACID,
-Nr e cooni /o$i'ili)-D<=!com'inari e = l&ate cate -#
-a4em oar %1 aa -> oricare aa e coi>cat e - cooni,
AUG )-D metionina)-D coon $tart al oricarei gene,
- Str&ct&rile ADN-&l&i: -$tr /rimara)-Dcatena e ADN
-$tr $ec&nara)-D&'la catena e )
ADN
-$tr tertiara)-D&'l& 3eli+
-$tr c&aternara)-Dim/ac3etarea in )
cromo*omi!incolacirea /e 3i$tone->$olenoi->cromo*omi#
-N&cleo*omii $&nt conectati /rin ADN, " n&cleo*om)-D"
3i$tona5ADN )
im/ac3etat /e el,
)-DCROMO0OMI)-D
ADN e $&' forma e cromo*omi n&mai in i4i*i&ne
!metafa*a#...
- " cromo*om)-D% 'rate! / $i ?# ce a& la mi@loc &n centromer,
-in tim/&l 4ietii cel&lare(ADN-&l e econen$at(ra$/anit in tot
)
n&cle&l,
Carioti/&l &man: i/loi(%- /erec3i e cromo*omi!%% /er
a&to*omi $i " )
/er 3etero*omi#
-Genom&l e i/loi,
-colorati: G(M(A(C,
)-DANOMALII CITOGENETICE)-D
-Con$tit&tionale(e+ Sinrom&l DoBn
-Do'anite(e+(cromo*om&l P3ilael/3ia !tran$locatia 2-
%%(mar:er /t )
le&cemii(re*&lta /rin f&*ionarea a o&a gene normale-
>oncogena,#,
-la $e+&l feminin e$te /re*ent cor/&$c&l&l Carr,
-Sinrom&l Dlinefelter a/are oar la $e+&l ma$c&lin
)-DPCR)-D
PolEmera$e c3ain reaction)-D/rimer5TAA!Termo/3il&$ )
A?&atic&$-en*ima#n&cleotie, ->/olimeri*area ADN,
Form&la e m&lti/licare a ADN: % la /&terea n(n)-Dnr e )
m&lti/licari(n)-D-1!nr ma+im e m&lti/licari#
Mito*a 4$ Meio*a:
Mito*a: ->% cel&le >ice ientice intre ele $i ientice c& cel&la
mama,
Meio*a:-are /rofa*a(metafa*a(,anafa*a $i telofa*a,
-$e/arare /rin $c3im' intre % cromo*omi )
omologi)-Dcro$$ing-o4er,-> GGcloneGG ale cel&lei /rinci/ale,
-meio*a I :m&lti/licarea ADN $i $e/ararea in cromatie,-
> )
cel&le 3a/loie!gametice#,
la $e+&l feminin:" cel->" gamet!atorita glo'&lilor /olari#
la $e+&l ma$c&lin:"cel ->=gameti!= cel&le DIFERITE#
Deci(in meio*a ->= cel&le iferite,
Meio*a are cro$$ing-o4er(mito*a n&,
In i4i*i&ne are loc organi*area ADN in cromo*omi $i &/licarea
)
cromatielor,Cromatie $&rori)-Da/artin acel&ia$i cromo*om,
)-DNONDISHUNCTII CROMO0OMALE5CROMATINIENE)-D
-La i4i* I(noni$@&nctia e mai gra4a eoarece toti gametii $&nt
)
afectati,
-La i4i* II $&nt afectati 61I
-are loc o recom'inare /e 'rat e cromo*om,
-e+i$ta = mo&ri e tran$mitere a 'olilor: a&to*omal
omimant!DJD $a& )
DJ# $a& rece$i4!J# $i K-lin:at(ominant $i rece$i4,
Rece$i4)-D caracter&l $e manife$ta aca am'ele allele $&nt
/re*ente,
;etero*igot)-D% allele iferite(&na ominanta $i &na rece$i4a,
Coli AR !a&to*omale rece$i4e#
-/arintii 5 co/ii $&nt normali,
-am'ii /arinti $&nt 3etero*igoti
-'oli rare
-ma@oritatea $&nt /&rtatori
-a/ar in $it&atii e con$ang4initate !n& INCEST...#
-3etero*igotii $ecreta /rin allela f&nctionala $&>cienta /roteina
)
normala ->3a/loin$&>cienta,
Coli AD!a&to*omal ominante#
-fenoti/ normal : J
-fenoti/ anormal : DJD $a& DJ
-allela anormala e ominanta iar allela normala e rece$i4a,
-fenoti/&l 3omo*igot ominant e letal,
-o allela efecta e /re*enta in >ecare generatie,
)%1
Coli K rece$i4
-/reomina la 'ar'ati!% allele efecte#
-la 'ar'ati(oar mama /oate a4ea allela efecta,
e+:3emo>lia(i$tro>a m&$c&lara D&c3enne,
)-DMUTATII)-D
-ni4el&l e m&tatii e $ca*&t
-re/re*inta erori e co/iere a ADN in re/licare!frec4ente#
-factori ce /ro4oaca)-Draiatii5meta'oliti,
-e+i$ta $i$teme e re/arare
-m&tatiile $im/le $&nt cele mai frec4ente,
-m&tatiile enogenice)-Dm&tatii $/ontane!$e inloc&ie$c %
'a*e#($&nt cele )
mai com&ne7 c& acelea$i 'a*e)-D tran*itii(c& 'a*e )
iferite)-Dtran$4er$ii,
-con$ecinte ma@ore ale m&tatiilor $&nt a/ro+ -I
-TIPURI e m&tatii:
-$ilentioa$e!$inonime#:n& $c3im'a $ec4enta genei $i n&
/ro&c )
efect fenoti/ic,
-ne$inonime:a& efect noci4J$&nt fara efectJa& efect
'ene>c,
-m&tatiile ne$inonime fara efect:/roteina c& $tr&ct&ra
iferita(care )
e+ercita aceea$i f&nctie,
-Unitatea f&nctionala a genom&l&i)-Dgena,
-Com/o*itia genom&l&i:coon $tart(introni(e+oni(coon $to/,
-Str&ct&ri a$ociate:/romoter(regi&ni $tim&latorii!en3ancer5
$ilencer#
-S/licing-&l are loc intr-&n intron,
-M&tatii:-non$en$:&n intron e tran$format intr-&n coon $to/-
>re&cere )
in f&nctia genei,
-mi$$en$e-con$er4ati4e $i noncon$er4ati4e,
)-DGRUPE DE SANGE)-D
Intre'are /o$i'ila: Care e reactia care $ta la 'a*a moi>carii )
/atologice in incom/ati'ilitatile e tran$f&*ie8De$crieti
$&cce$i&nea )
moi>carilor /atologice,
-Fenoti/&l Com'aE:li/$a $&'$tantei ;!leaga antigen&l e
3ematie#
-Gr&/ele e $ange $&nt coi>cate /e cromo*om&l 2,
)-DIMUNOGENETICA)-D
-Linie e a/arare cel&lara
-$emnali*ea*a /ro'lemele $i$tem&l&i im&n,
M;C la om )-D;LA!;&man Le&:ocEte Antigen#
-Caractere M;C:-/oligenic:coi>ca mai m&lte gene
-/olimor>c:/oate coi>ca mai m&lte 4ariatii )
ale aceleia$i gene c& f&nctii $imilare
-con$er4at in e4ol&tie la mamifere
... ORICARE no&a /ro4ocare antigenicaJm&tagenica are ne4oie
e &n no& )
M;C,Oricare /roteina are M;C-&l ei,Un M;C are o $ing&ra
/roteina )
$/eci>ca.
-e+/re$ie M;C -coominanta,
-Proce$area &nei /roteine n& generea*a /e/tie c& $ec4enta
ca/a'ila $a )
$e lege e M;C,
-Re$trictia $i$tem&l&i rec&noa$te n&mai COMPLEKUL ANTIGEN
PEPTIDIC5M;C,
Cea mai frec4enta ca&*a a m&tatiilor ADN)-D erorile e
m&tatie,
De in4atat $c3emele $i$temelor AC1 $i R3!R3e$&$#,
FARA INTRECARILE : %=(%6(-<(6-(66,