dihibriduli Sejvareba

20
1.5 dihibriduli Sejvareba
mendeli ar dakmayofilda niSan-TvisebaTa mxolod erT wyvilze dakvirvebiT. man
gaagrZela cdebi bardaze, radgan ainteresebda, ra kanonzomiereba gamovlindeboda
ori niSan-TvisebiT gansxvavebuli mcenareebis Sejvarebisas. man erTmaneTTan Seajvara
niSan-TvisebaTa ori wyviliT _ Teslis feriT da formiT _ gansxvavebuli homozigoturi
formebi: erTs yviTeli gluvi Tesli hqonda, meores ki _ mwvane danaoWebuli.
F TaobaSi miRebuli yvela Tesli yviTeli da gluvi iyo.
1
= TqvenTvis cnobili romeli kanonzomiereba gamovlinda am SemTxvevaSi?
= gansazRvreT dominanturi da recesiuli niSnebi.
aRvniSnoT dominanturi niSnebi A (Teslis yviTeli feri) da B (Teslis gluvi forma),
xolo recesiuli _ a (mwvane feri) da b (danaoWebuli forma) simboloebiT. qvemoT
mocemulia F Taobis hibridebis miRebis sqema:
1
P AABB aabb
F 1 AaBb
rogorc xedavT, F hibriduli Taoba heterozigoturia niSan-TvisebaTa orive wyvi-
1
lis mixedviT. aseT individebs diheterozigoturi ewodeba.
mendeli dainteresda, rogor gamovlindeboda niSan-Tvisebebi F TaobaSi. man F 2 1
Taobis hibridebs TviTdamtvervis saSualeba misca. F Taobis mcenareebidan sul 556
2
Tesli Segrovda. mSobliuri formebis garda, gamovlinda axali fenotipebi: mwvane
gluvi da yviTeli danaoWebuli Teslebi. fenotipebis raodenobebi ase ganawilda:
yviTeli gluvi _ 315
yviTeli danaoWebuli _ 101
mwvane gluvi _ 108
mwvane danaoWebuli _ 32
fenotipebis raodenobrivi Tanafardobis dasadgenad TiToeulis raodenoba gavyoT
umciresze:
315
:
101
:
108
:
32
anu 9 : 3 : 3 : 1
32 32 32 32

SevecadoT, avxsnaT es Sedegi.
yoveli niSan-Tvisebis (Teslis rogorc feris, ise formis) ganmsazRvrel alelur
genTa wyvilidan gametebSi TiTo xvdeba. amitom F Taobis hibridi _ diheterozigo-
1
turi individi _ 4 saxis gametas warmoqmnis. esenia: AB, Ab, aB da ab.
SevadginoT penetis cxrili, sadac horizontalurad CavwerT yvela saxis mamrobiT,
xolo vertikalurad _ yvela saxis mdedrobiT gametas, horizontaluri da vertikaluri
svetebis gadakveTaze ujrebSi ki am gametebis Sexvedris Sedegad warmoqmnili 16
genotipi Caiwereba (sur.1).
AB
Ab
aB
ab
AB Ab aB ab
AABB AABb AaBB AaBb
AABb AAbb AaBb Aabb
AaBB AaBb aaBB aaBb
AaBb Aabb aaBb aabb
sur.1. penetis cxrili dihibriduli SejvarebisaTvis
pebi. ramdeni genotipi `imaleba~ TiToeuli fenotipis ukan?
1. ramdeni saxis fenotipi
miviReT? daTvaleT Ti-
Toeuli saxis fenotipis
raodenoba. miiReT Tu ara
mendelis msgavsi Sedegi _
9 : 3 : 3 : 1?
2. daiTvaleT, ramdeni saxis
genotipi miiReT?
3. axseniT, ratom sWarbobs
genotipebis raodenoba
fenotipebis raodenobas.
4. amowereT yvela saxis: yvi-
Teli da gluvTesliani,
yviTeli da danaoWebu l-
Te sliani, mwvane da gluv-
Tesliani da mwvane da danaoWebulTesliani
feno-
tipebis Sesabamisi genoti-
5. axla cal-calke daiTvaleT yviTeli da mwvane fenotipebis raodenoba da ipo-
veT maT Soris Sefardeba. aseve daiTvaleT gluvi da danaoWebuli fenotipebis
Sefardeba. rogori Sedegi miiReT? ras emTxveva Tqven mier miRebuli
Sefardeba?
aseTive Sedegi (orive SemTxvevaSi 12 : 4, anu 3 : 1) miiRo mendelmac da daaskvna, rom
niSan-TvisebaTa erTi wyvili (am SemTxvevaSi feri) meore wyvilze (am SemTxvevaSi formaze)
damokidebuli ar aris. isini erTmaneTisgan damoukideblad iTiSebian TanafardobiT
3:1. SeiZleba iTqvas, rom dihibriduli Sejvareba ori erTmaneTisgan damoukideb-
21

lad mimdinare monohibriduli Sejvarebaa. SemdgomSi am daskvnebma kanonis forma miiRo
da mas mendelis III _ genebis damoukideblad ganawilebis kanoni ewoda.
rogoria genebis damoukideblad ganawilebis qromosomuli meqanizmi?
gametebis Camoyalibebis procesSi I meiozuri gayofis dros erTmaneTs Sordebian da sxvadasxva
ujredebSi xvdebian gaormagebuli homologiuri qromosomebi (sur.2). xolo II meiozuri
gayofisas erTmaneTs scildeba qromatidebi da maTSi lokalizebuli aleluri genebi.
sur.2. gametebis Camoyalibeba meiozis procesSi
sqemaze meiozis procesSi F Taobis hibridis (diheterozigoturi individis) gaor-
1
magebuli homologiuri qromosomebis da maTSi lokalizebuli alelebis dacilebis a
da b variantebia warmodgenili.
daakvirdiT sqemas da moifiqreT:
1) romeli genebi moxvdeba I meiozuri gayofis Sedegad miRebul TiToeul ujredSi
a da b variantebSi?
2) ramdeni saxis gameta miiReba II meiozuri gayofis Sedegad a da b variantebSi?
3) Tanabaria Tu ara TiToeuli saxis gametis warmoqmnis albaToba? pasuxi daasabuTeT.
22
I meiozuri gayofa
a) b)
A
B
A
B
a
b
a
II meiozuri gayofa
b
a
diheterozigoti
individi
gametebis warmoqmnis yvela SesaZlo varianti
B
a
B
A
b
A
b

ogorc sqemidan Cans, sxvadasxva niSan-TvisebaTa ganmsazRvrel genTa alelebi qro-
mosomaTa sxvadasxva wyvilSia lokalizebuli, amitom maTi ganawileba gametebSi erTmaneTisgan
damoukideblad xdeba.
1. romeli alelebis matarebeli gametebi unda Sexvedrodnen erTmaneTs,
rom fenotipi yviTeli da danaoWebuli yofiliyo? dawereT yvela
varianti.
2. gametebis rogori kombinacia iZleva mwvane gluvTeslian
bardas?
3. miRebuli variantebidan romeli fenotipis mixedviT SeiZleba genotipis
gamocnoba?
4. rogori iqneba Teslis feris mixedviT heterozigoti, xolo Teslis
formis mixedviT recesiuli homozigoti bardis genotipi da fenotipi?
zRvis goWebSi bewvis xveuli forma dominirebs
sworze, bewvis Savi feri _ TeTr ferze. zemoT
ganxiluli SemTxvevis msgavsad, am niSan-TvisebaTa
ganmsazRvreli alelebi qromosomaTa sxvadasxva
homologiur wyvilebSia lokalizebuli. davuSvaT,
orive niSnis mixedviT homozigoti TeTri xveulbewviani
mdedri aseTive homozigot Sav sworbewvian mamrTan Seajvares.
1. SemoitaneT Sesabamisi aRniSvnebi.
2. dawereT mSoblebis genotipebi da maTi gametebi.
3. dawereT F 1 Taobis hibridebis genotipi, maTi gametebi da fenotipi.
4. penetis cxrilis gamoyenebiT SeadgineT F Taobis hibridebis erTmaneTTan Sej-
1
varebis Sedegad miRebuli F Taobis hibridTa genotipebi da fenotipebi.
2
5. rogoria miRebul fenotipTa raodenobrivi Sefardeba?
6. SeadareT ganxiluli magaliTi bardis dihibridul Sejvarebas da axseniT, ratom
ar hgvanan F Taobis hibridebi TavianT mSoblebs.
1
23

gB
gB
gb
gb
d) ramden bocvers eqneba nacrisferi bewvi da wiTeli Tvalebi? ------------
e) ramden bocvers eqneba TeTri bewvi da Savi Tvalebi? ------------
24
Semajamebeli gakveTili
genetikuri amocanebis amoxsna dihibridul SejvarebasTan dakavSirebiT
amocana 1. erT-erTi saxeobis bocvrebSi bewvis nacrisferi
Seferiloba (G) TeTrze dominirebs, Tvalebis Savi feri (B) _
wiTelze. rogori fenotipebi eqnebaT qvemoT mocemuli genotipebis
mqone bocvrebs?
Ggbb __________ ggBB ____________
ggbb _________ GgBb ____________
amocana 2. GgBb genotipis mqone bocveri ggBb genotipis mqone bocverTan Seajvares.
GB Gb gB gb
a) dawereT am individebis fenotipebi:
---------------------------------------------------------------------b)
SeavseT qvemoT mocemuli penetis cxrili, romelic am
Sejvarebas asaxavs.
g) 16-dan ramden bocvers eqneba nacrisferi bewvi da Savi
Tvalebi?
------------------
dawereT maTi genotipebi ---------------------------------------
dawereT maTi genotipebi -------------------------------------
v) ramden bocvers eqneba TeTri bewvi da wiTeli Tvalebi? -------------
z) gamoTvaleT TiToeuli fenotipis miRebis albaToba Sesabamisi formulis gamoyenebiT.
amocana 3. erTmaneTTan Seajvares SavTvaleba nacrisferi
bocvrebi, ris Sedegadac miRebuli STamomavloba SavTvalebaa.
maTi erTi meoTxedi
TeTria, xolo danarCeni nacrisferi.
penetis cxrilis gamoyenebiT
gamoicaniT mSoblebis
genotipebi.

amocana 4. zRvis binadari patara kibosnairi cxovelebis _ ciklopebis erT-erTi
saxeobis nawils Tavze jagrebiani antenebi aqvT, nawils ki _ ujagrebo. jagara ante-
nebi dominanturi niSan-Tvisebaa, ujagro ki _ recesiuli.
amave ciklopebis nawils pesticidebis mimarT mdgradobis
ganmsazRvreli recesiuli geni aqvs, xolo danarCenebs
_ misi aleluri dominanturi geni, romelic pesticidebis
mimarT cxovelis mdgradobas ar ganapirobebs.
SemoitaneT Sesabamisi aRniSvnebi da penetis cxrilis
gamoyenebiT daadgineT:
rogori STamomavloba miiReba diheterozigoturi individebis Sejvarebisas?
rogoria pesticidebisadmi mdgradi jagaraanteniani ciklopebis gaCenis albaToba?
amocana 5. STamomavalTa ra nawili iqneba qvemoT CamoTvlili Sejvarebebidan mTli-
anad homozigoturi, Tu yvela geni erTmaneTisgan damoukideblad iTiSeba?
a. AaBb+AaBb;
b. BBCC+bbcc;
g. AaBB+AABb.
amocana 6. homozigoturi wiTelyvaviliani devispiras ho-
mozigotur TeTryvavilianTan Sejvarebisas miRebuli hibridebis
yvavilebi vardisferia. aseve homozigoturi viwrofoTliani devispiras
homozigotur farTofoTlianTan Sejvarebisas miRebul
hibridebs saSualo zomis foTlebi aqvT.
penetis cxrilis gamoyenebiT gaarkvieT:
genotipTa da fenotipTa rogori Tanafardoba
miiReba STamomavlebSi, Tu
davuSvebT, rom devispiras yvavilebis
ferisa da foTlebis zomis ganmsazRvrel genTa wyvilebi
erTmaneTisgan damoukideblad iTiSebian:
a. wiTelyvaviliani saSualofoTliani mcenaris SejvarebiT vardisferyvavilian sa-
SualofoTlian mcenaresTan?
b. vardisferyvaviliani da saSualofoTliani mcenaris
SejvarebiT TeTryvavilian da viwrofoTlian
mcenaresTan?
g. ori diheterozigotis SejvarebiT?
25

26
drozofilas `damsaxureba~
amerikeli biologi Tomas hant morgani (1866-1945) iseve, rogorc
mendeli, genetikis erT-erTi fuZemdebelia.
1908 wels morganma, kolumbiis universitetis (niu-iorki) pro-
fesorma, specialobiT embriologma*, gadawyvita, imxanad uperspeqtivo,
magram modur mecnierebaSi _ genetikaSi emuSava, riTac didad
gaaoca universiteteli kolegebi. morgans iSviaTi Tviseba hqonda _
igi Tavis garSemo niWier adamianebs ikrebda. amis wyalobiT mis laboratoriaSi
uamravi aRmoCena gakeTda.
Tomas
morgani
morgani Cveulebriv bocvrebze, Tagvebsa da virTagvebze
muSaobda, magram universitetis laboratoriis mokrZalebuli
biujetis gamo mas didi vivariumis** aRsaWurvad fuls aravin aZlevda. sainteresoa,
rom morgans gamokvlevebSi swored is siZneleebi daexmara,
romelTac muSaobis dros waawyda. mkvlevari iZulebuli
gaxda, ufro iafi saeqsperimento obieqti eZebna da man erTi
cicqna xilis buzi _ drozofila airCia, romlis sruli
Drosophila laTinuri saxelia Drosophila melanogaster, rac `namis moy-
melanogaster
varul Savmuclians~ niSnavs. igi 3,5 mm sigrZis sxeulis mqone
wiTelTvaleba mweria da Cven araerTxel gvinaxavs gadamwifebul xilze Seseuli. drozofila
morganisaTvis, iseve rogorc mendelisTvis barda, udidesi migneba iyo (uiSviaTesi
movlena, roca mommaragebelTa siZunwem fasdaudebeli samsaxuri gauwia mecnierebas).
drozofila advilad mravldeba minis kolbebSi, romlebSic gaxexili banani an qiSmi-
Siani mananis fafaa moTavsebuli. drozofilas ZiriTadi Rirseba mis swraf gamravleba-
Sia. erTi mdedri weliwadSi 30-35 Taobas iZleva.
alfred
drozofilas ujredebis mikroskopuli ga- stertevanti
mokvlevebiT morganma da misma mowafeebma fundamenturi
faqtebi daadgines _ qromosomebis formis an
struqturis cvlilebas TviT drozofilas garegnuli
ieris cvlileba mosdevda. morganma ganaviTara
satonisa da boveris qromosomuli Teoria, daamuSava
da daasabuTa misi ZiriTadi debulebebi. morganis
mowafem alfred stertevantma pirvelma gamoTqva
mosazreba, rom qromosomebSi genebi Zafze asxmuli mZivebiviT, xazovnadaa ganlagebuli, rac
eqsperimentulad dadasturda. morganis da misi jgufis mier Camoyalibebuli memkvidreobi-
Tobis qromosomuli Teoria drozofilebze Catarebul eqsperimentTa udidesi seriis Sedegia.
Tomas morgans am gamokvlevebisTvis 1933 wels nobelis premia mieniWa.
* embriologia _ mecnierebaa adamianis, cxovelisa Tu mcenaris Canasaxis ganviTarebis Sesaxeb.
** vivariumi _ specialuri sadgomi cxovelebisTvis, maTze dakvirvebisTvis an cdebis Casatareblad.

1.6 genTa SeWiduloba. krosingoveri
mendelis mier aRmoCenili genTa damoukidebeli ganawilebis kanoni mxolod im
SemTxvevisTvis aris samarTliani, rodesac sxvadasxva niSan-Tvisebis ganmsazRvreli
araaleluri genebi qromosomaTa sxvadasxva homologiur wyvilSi mdebareobs. magram
ra xdeba maSin, rodesac es genebi erT homologiur wyvilSia lokalizebuli?
adamians daaxloebiT 25 000 geni aqvs, romlebic 46 qromosomaSia ganawilebuli.
amitom TiToeul qromosomaSi asobiT genia Tavmoyrili. cxadia, rom erT qromosomaSi
lokalizebuli genebi erTmaneTs ver daSordeba da damoukideblad ver ganawildeba,
amitom maT SeWidul genebs uwodeben. dihibriduli Sejvarebisas aseTi genebiT ganpirobebuli
niSan-Tvisebebi 9:3:3:1 TanafardobiT daTiSvas ar amJRavneben.
= SeiZleboda Tu ara, mendels winaswar scodnoda, rom bardis mis mier SerCeuli niSan-
Tvisebebi sxvadasxva qromosomul wyvilSi mdebare genebiT iyo ganpirobebuli?
= aRmoaCenda Tu ara mendeli genTa damoukidebeli ganawilebis kanons, cdebi SeWiduli
genebiT ganpirobebul niSan-Tvisebebze rom Caetarebina?
genTa SeWidulobis movlena pirvelad ingliselma genetikosebma
uiliam betsonma da rejinald penetim SeniSnes baRis arjakelze
(sur. 1) dakvirvebisas, magram am movlenis arsis axsna mxolod Tomas
morganma SeZlo.
Tomas morgani Tavis eqsperimentebs xilis buz drozofilaze
atarebda. rogorc iciT, drozofila genetikuri kvlevebi sTvis
saukeTeso obieqtia, radgan laboratoriul pirobebSi kargad
mravl deba da yovel 10-12 dReSi axal Taobas iZleva. mendelisagan
gansxvavebiT, morganma ukve icoda, rom niSan-Tvisebebs genebi
gansaz Rvravs, romelTa ricxvi qromosomebis ricxvs bevrad aRemateba.
morganis varaudiT, erT qromosomaSi lokalizebuli, anu
SeWiduli, genebi erTmaneTs ar dascildeboda.
Tavis erT-erT cdaSi morganma erTmaneTTan Seajvara ori niSniT
(frTebis sigrZiTa da
sur.1. baRis arjakeli
sxeulis feriT) gansxvavebuli
drozofilebi (sur.2): ruxi grZelfrTiani
(orive niSnis mixedviT dominanturi homozigoti
_ AABB) da Savi moklefrTiani (orive niSnis
mixedviT recesiuli homozigoti _ aabb). am
Sej varebis Sedegad miRebuli F Taobis yvela
1
hibridi ruxi da grZelfrTiani aRmoCnda. gamovlinda
I Taobis erTgvarobis wesi.
sur.2. homozigoti drozofilebi
27

28
= rogori iqneboda miRebuli hibridis genotipi?
morganma SerCeuli genebis qromosomebSi ganawilebis ori SesaZlo varianti iva-
rauda:
sur.3.
sur.4.
B
b
B
b
A
a
centromera
A
a
1. alelebis ori wyvili, romlebic sxeulis fersa
(A da a) da frTebis sigrZes (B da b) gansazRvravs, qro-
mosomaTa sxvadasxva homologiur wyvilSia (sur. 3).
2. alelebis es ori wyvili SeWidulia da qromosomaTa
erT homologiur wyvilSia lokalizebuli (sur. 4).
amis Semdeg man gamaanalizebeli Sejvareba Caatara,
anu miRebuli hibridi orive niSniT recesiul (Sav da
moklefrTian) individTan Seajvara.
daadgineT, rogor Sedegebs eloda morgani cdis TiToeuli variantisTvs.
am mizniT:
1. sur. 3-is da sur. 4-is mixedviT orive variantisTvis SeadgineT F Taobis
1
hibridTa gametebis qromosomebis sqemebi (gaiTvaliswineT, rom gametaSi qromosomebis
TiToeuli homologiuri wyvilidan mxolod erTi xvdeba);
2. penetis cxrilis gamoyenebiT SeadgineT F Taobis hibridebis genotipebis
2
qromosomaTa sqemebi orive variantisTvis;
3. daadgineT F Taobis hibridebis fenotipebis procentuli Tanafardoba Ti-
2
Toeuli variantisTvis.
amgvarad, Tu mkvlevari am Sejvarebis Sedegad, mSoblebis msgavsi individebis garda,
imave raodenobis axal kombinaciebs miiRebda (e. i. TiToeul kombinacias 25-25%-s),
CaTvlida, rom frTebis sigrZisa da sxeulis feris ganmsazRvreli genebi qromosomaTa
sxvadasxva homologiur wyvilSia. xolo Tu mxolod mSoblebis msgavs individebs miiRebda
Tanabari raodenobiT (anu 50-50 %-s), CaTvlida, rom es genebi SeWidulia.
morganma mravaljer Caatara aRwerili eqsperimenti, magram Tavis mier navaraudevi
verc erTi Sedegi ver miiRo. mis mier miRebuli Sedegebi ase gamoiyureboda (sur. 5):

sur.5. F 2 Taobis hibridebi
41,5%
ruxi da
grZelfrTiani
41,5%
Savi da
CanasaxovanfrTiani
8,5%
Savi da
grZelfrTiani
8,5%
ruxi da
CanasaxovanfrTiani
es Sedegebi ufro axlos iyo meore savaraudo variantTan, romlis mixedviT sxeulis
ferisa da frTebis sigrZis ganmsazRvreli genebi SeWidulia da qromosomaTa erT homologiur
wyvilSi mdebareobs. amrigad, Sedegis mixedviT SeiZleba iTqvas, rom genebi
SeWidulia, magram es SeWiduloba sruli ar aris, mas raRac arRvevs da amaze axali
kombinaciebis arseboba metyvelebs. SeWidulobis darRveva morganma meiozis dros homologiur
qromosomebs Soris monakveTebis gacvlis SesaZleblobiT axsna.
jer kidev 1909 wels belgielma mecnierma
iansensma I meiozuri gayofis profazaSi SeamCnia
gadajvaredinebuli qromosomebi (qiazmebi) (sur. 6).
morganma gamoTqva azri, rom gadajvaredinebisas
sur.6. qiazmebi
qromosomebi erTmaneTs monakveTebs ucvlian, ris
Sedegadac erTi qromosomis genebi SeiZleba meore homologiur
qromosomaSi moxvdnen. am movlenas krosingoveri ewoda. krosingoveris
morganiseuli sqema Semdegnairad gamoiyureba (sur. 7):
momdevno gamokvlevebma daadastura morganis mosazrebebi.
Tanamedrove warmodgeniT krosingoveris movlenas Semdegi sqema sur. 7. krosingoveris
sqema morganis mixedviT
asaxavs (sur. 8):
homologiuri
qromosomebi
qromosomebis
gaormageba krosingoveri rekombinacia
gametebi
sur. 8. krosingoveri Tanamedrove
warmodgeniT
29

30
morganis laboratoriis Semdgomma gamokvlevebma cxadyo, rom meiozis dros qromo-
somebis monakveTebis gacvla TiTqmis yvela homologiur wyvilSi xdeba, ris Sedegadac
gametebSi genebis axali kombinaciebis mqone genebi xvdeba. am process rekombinacia
ewodeba, xolo `axali~ qromosomebis mqone gametebis SeerTebiT miRebul fenotipebs
_ rekombinantebi.
krosingoveris meSveobiT genebis axali kombinaciebi warmoiqmneba. amitom igi memkvidreobiTi
cvalebadobis erT-erTi mizezia.
1. gamoiCekeboda Tu ara Savi da grZelfrTiani drozofila, krosingoveri
rom ar xdebodes? pasuxi daasabuTeT.
2. ra movlenam gamoiwvia erT qromosomaSi arsebuli SeWiduli genebis
sxva dasxva gametaSi moxvedra?
3. drozofilas romeli fenotipebi SeiZleba CaiTvalos rekombinantebad
zemoT ganxilul magaliTSi?
ganixileT mocemuli sqe-
ma da moifiqreT:
1. rogoria mSoblebis, F1 da F Taobis individTa
2
genotipebi?
2. gamovlinda Tu ara I Taobis
erTgvarobis wesi?
3. rogoria daTiSva F Tao-
2
baSi? SeadareT miRebuli
Sedegi bardis dihibriduli
Sejvarebis Sedegebs.
ra gansxvavebaa maT
Soris?
4. ratom ver miviReT axali
kombinaciebi?
P 1
gametebi
F 1
gametebi
F 2
A B
A B
A B
A B
a b
A B
A B a b
A B
A B
a b
A B
A B A B
a b
a b
a b
a b a b
A B
a b
a b
a b
a b

1.10 alelur genTa urTierTqmedeba
germanelma mecnierma avgust vaismanma me-19 saukunis bolos gamoTqva mosazreba,
rom organizmi memkvidruli faqtorebis mozaikas warmoadgens, anu organizmis genotipi
calkeuli, erTmaneTisgan damoukidebeli genebis jamia.
• rogor fiqrobT, ris safuZvelze SeeZlo a. vaismans am mosazrebis gamoTqma?
Semdgomma gamokvlevebma cxadyo, rom es Sexeduleba mcdaria. sinamdvileSi organizmSi
xSir SemTxvevaSi erTmaneTze zemoqmedebs rogorc erTi da imave alelis, ise
sxvadasxva alelis mravali geni. genTa urTierTqmedebis movlena 1909 wels aRmoaCina
uiliam betsonma, rasac genetikis ganviTarebisaTvis didi mniSvneloba hqonda.
arCeven alelur da araalelur genTa urTierTqmedebas.
alelur genTa urTierTqmedebis tipuri magaliTia TqvenTvis kargad cnobili sruli
dominirebis SemTxveva, rodesac dominanturi niSan-Tviseba (mag., bardis Teslis yviTeli
Seferilobis) Trgunavs recesiuls (Teslis mwvane Seferilobas); agreTve arasruli dominirebis
movlena, romlis drosac erTi
aleli nawilobriv axSobs meoris moqmedebas,
ris gamoc F Taobis heterozigot (Aa)
1
organizmebSi orive mSobliuri formisaTvis
damaxasiaTebeli Sualeduri niSan-Tviseba
mJRavndeba (sur.1.). ase magaliTad, gulisabas
an mixakis wiTelyvaviliani (AA) da TeTryvaviliani
(aa) mcenareebis SejvarebiT miRebul
hibridebs (Aa) vardisferi yvavilebi aqvT.
ganxilul magaliTebSi yovel niSan-Tvisebas erTi genis ori saxis aleli (mag. A da a)
gansazRvravda. aris SemTxvevebi, roca erTi niSan-Tviseba ramdenime gansxvavebuli (orze
meti) aleliT aris ganpirobebuli. aseT movlenas mravlobiTi alelizmi ewodeba. magali-
TisTvis ganvixiloT sisxlis jgufebis damemkvidreba adamianSi.
adamianis sisxlis jgufebi autosomuri I geniT ganisazRvreba, romelic me-9 qromosomaSia
lokalizebuli da sami: IA , IB da i aleliTaa warmodgenili. IA da IB alelebi erTnairi
xarisxiT dominireben i-ze, romelic recesiulia orives mimarT. IA da IB sur.1. arasruli dominireba mixakebSi
alelebi
eriTrocitebis zedapirze A da B antigenebis _ aglutinogenebis sinTezs gansazRvraven,
i alels ki antigenebis sinTezis unari ara aqvs. garda
amisa, sisxlis plazmaSi SeiZleba arsebobdes α da β antisxeulebi
_ aglutininebi. antigenisa (aglutinogenis) da
Sesabamisi antisxeulis (aglutininis) urTierTSexvedris
(A+α da B+β) SemTxvevaSi xdeba eriTrocitebis Sewebeba _
aglutinacia (sur.2).
sur.2. eriTrocitebis aglutinacia
45

• Tqveni azriT, ra Sedegebi mohyveba aglutinacias?
sisxlis jgufebis SeuTavsebloba swored am movlenazea damokidebuli. eriTrocitebis
zedapirze antigenebisa da sisxlis plazmaSi aglutininebis Semcvelobis mixedviT
adamianTa populacia oTx jgufadaa dayofili.
46
sisxlis jgufi I jgufi (0) II jgufi (A) III jgufi (B) IV jgufi (AB)
eriTrocitebi
plazma
genotipebi
ar aris antigenebi antigeni A antigeni B antigenebi A da B
α da β aglutininebi β aglutinini α aglutinini
sqemis mixedviT gaarkvieT:
aglutininebi
ar aris
i i I A I A an I A i I B I B an I B i I A I B
sur.3. sisxlis jgufebi
a) II da III jgufebis sisxli Seicavs rogorc antigenebs, ise antisxeulebs. ratom
ar xdeba aglutinacia am jgufebis mqone adamianTa sisxlSi?
b) Tqveni azriT, ratom ar Seicavs I jgufis sisxlis eriTrocitebi aglutinogenebs?
g) Tqveni azriT, ratom ar Seicavs aglutininebs IV jgufis sisxli?
sisxlis jgufebis codnas didi mniSvneloba aqvs sisxlis gadasxmis dros, radgan
antigenisa da Sesabamisi antisxeulis urTierTSexvedram SeiZleba adamianis daRupva
gamoiwvios.
sisxlis jgufebi 1900 wels aRmoaCina avstrielma
eqimma karl landStainerma (sur.4.), risTvisac mas
1930 wels nobelis premia mieniWa.
sisxlis jgufebis gamokvleva farTod gamoiyeneboda
sasamarTlo medicinasa da kriminalistikaSi,
rogorc damnaSave piris gamosavlenad, ise adamianTa
Soris naTesauri kavSiris dasadgenad. axla am mizniT
genetikur testebs iyeneben, romelsac mogvianebiT
gaecnobiT.
sur.4. karl landStaineri

mSoblebis sisxlis jgufebis mixedviT SesaZlebelia davadginoT, romeli jgufis
sisxli SeiZleba hqondeT maT Svilebs.
magaliTad, gamovarkvioT, romeli jgufis sisxli eqnebaT Svilebs, Tu mSoblebs I da
IV jgufis sisxli aqvT:
mSoblebis genotipebia: i i x I A I B
gametebi: i i I A I B
Svilebi: i I A an i I B
am mSoblebs SeeZinebaT II an III jgufis sisxlis mqone bavSvebi 1:1 SefardebiT, anu
TiToeuli 50%-iani albaTobiT.
ganxiluli nimuSis mixedviT gamoarkvieT:
1. rogori jgufis sisxli eqnebaT Svilebs, Tu mSoblebs heterozigoturi III jgu-
fis sisxli aqvT?
2. rogori jgufis sisxli eqnebaT I da homozigoturi II jgufis sisxlis mqone
mSoblebis Svilebs?
1. riT aixsneba is faqti, rom I jgufis sisxlis mqone adamianisaTvis mxolod
Tavisive jgufis sisxlis gadasxma SeiZleba (sxva jgufis sisxlis
gadasxma sikvdils iwvevs).
2. axseniT, ratom iTvleba I jgufis sisxlis mqone adamiani universalur
donorad.
3. axseniT, ratom iTvleba IV jgufis sisxlis mqone adamiani universalur
recipientad.
4. SeiZleba Tu ara sisxlis gadasxma da-Zmebs an mSoblebsa da Svilebs Soris
sisxlis jgufebis dadgenis gareSe?
samSobiaroSi ori axalSobili biWuna
erTmaneTSi aeriaT. erTis mSoblebs I da
II jgufis sisxli aqvT, meorisas _ II da IV.
bav Svebs I da IV jgufis sisxli aRmoaCndaT.
SeecadeT, gansazRvroT, romeli visi Svilia.
47

1.12 pleiotropia
wina gakveTilebze ganxiluli magaliTebidan Cans, rom zogierTi niSan-Tvisebis
gamovlena ramdenime genis urTierTqmedebis Sedegia. arsebobs sapirispiro movlenac,
rodesac zogierTi geni ori an ramdenime niSan-Tvisebis ganviTarebaze axdens gavlenas.
am movlenas pleiotropia (berZn. `pleion~ _ mravlobiTi, `tropos~ _ mimarTuleba), anu
genis mravlobiTi moqmedeba, ewodeba, xolo genebs, romelTac mravali gansxvavebuli
efeqti aqvT _ pleiotropiuli genebi.
mravlobiTi, anu pleiotropiuli, moqmedebis pirvel magaliTs TviT
mendelis naSromSi vxvdebiT. man aRwera, rom im wiTelyvavila mcenareebs,
romelTac foTlis iRliebSic wiTeli laqebi hqondaT, yovel-
Tvis aReniSnebodaT Teslis kanis ruxi Seferiloba da ivarauda, rom am
niSnebis damemkvidreba erTi memkvidruli faqtoriT ganisazRvreba.
genebis pleiotropiuli moqmedeba gamovlenilia adamianebsur.1.
faraoni
Sic. cnobilia dominanturi geni, romelic sayrden-mamoZravebeli
sistemis damaxasiaTebel cvlilebebTan erTad (dagrZelebuli Zvlebi,
zedmetad moZravi saxsrebi) Tvalis brolis anomaliebs da gulis
manksac gansazRvravs. am daavadebis niSnebi pirvelad frangma eqimma
exnatoni
a. marfanma aRwera 1896 wels. amitom mas
marfanis sindromi uwodes.
varaudoben, rom marfanis sindromiT iyvnen
daavadebuli faraoni exnatoni (sur. 1), genialuri
mevioline nikolo paganini, hans qristian
anderseni, abraam linkolni da sxva cnobili
adamianebi. amis gamo marfanis sindroms
sur.3.
zogjer geniosebis sindromsac uwodeben.
daakvirdiT suraTze biWis (sur. 2) xe-
sur.2.
lis mtevnebs da rentgenogramas (sur. 3). aseTi zedmetad
grZeli TiTebi marfanis sindromis erT-erTi simptomia da
mas `obobas TiTebs~ an araqnodaqtilias (berZn. `araqne~
_ oboba, `daqtilos~ _ TiTi)
uwodeben.
albaT, gagiWirdebaT, xelis
mtevnebs iseTi forma misceT,
rogoric am suraTebzea (sur.
4) gamosaxuli. amgvari zedmetad
moqnili saxsrebic marfanis sindromisTvis aris damaxasiaTebeli.
sur.4.
51

fotoze (sur. 5) mama da misi sami
Svilia gamosaxuli. maT marfanis sindromis
diagnozi dausves.
52
sur.5.
pleiotropiuli mutacia
adamianSi. dominanturma genma
mamasa da mis samive SvilSi
`obobas TiTebis~
ganviTareba gamoiwvia
suraTis mixedviT CamoTvaleT is niSan-Tvisebebi, romelTa mixedviT
Svilebi mamas da erTmaneTs hgvanan.
1. SeiZleba eWvi Segveparos im faqtSi, rom es niSnebi memkvidrulia? pasuxi daasabuTeT.
2. am ojaxSi meoTxe bavSvi rom gaCndes, daemsgavseba Tu ara agebulebiT mamas da
da-Zmebs? pasuxi daasabuTeT.
3. Tqven rom eqimi iyoT da aseT SemTxvevas waawydeT, pirvel rigSi romeli organoebis
gamokvlevas SesTavazebdiT am ojaxis wevrebs?
suraTze (sur. 6) mocemulia norma luri (a)
a aorta
b
da daavadebuli (b) guli. daavadebis mizezia
aortis anevrizma. es paTologia, romelic gu-
aortis
anevrizma
lis mankisaTvis damaxasiaTebeli simptomebiT
vlindeba, xSirad aRiniSneba marfanis sindromis
mqone adamianebSi da zogjer naadrevi
sikvdilis mizezi xdeba.
sur.6. a) janmrTeli guli; b) daavadebuli guli
xmelTaSuazRvispira qveynebSi, indoeTSi,
afrikisa da CrdiloeT amerikis SavkanianTa
dasaxlebebSi gavrcelebulia daavadeba namgliseburujreduli anemia.
am daavadebis dros Sesabamisi genis mutaciis Sedegad eriTrocitebSi
normaluri (A) hemoglobinis nacvlad misi saxeSecvlili
varianti _ S hemoglobini viTardeba. S hemoglobini naklebad
xsnadia da eriTrocitebis SigniT gamoileqeba, ris gamoc sisxlis
wiTeli ujredebi damaxasiaTebel namglisebur formas iReben
(sur.7.). es ki eriTrocitebis mier Jangbadis transportirebis unaris
daqveiTebas iwvevs.
sur.7. namgliseburi
eriTrocitebi

aseT avadmyofebs mravali sxva paTologiuri niSan-Tvisebac uviTardebaT: elenTis ga-
dideba, kanis dazianebebi, agreTve gulis, Tirkmlebisa da tvinis daavadebebi. swored
amitom am genis mixedviT homozigoturi (HbS/HbS) adamianebi bavSvobaSive iRupebian.
heterozigotebi (HbA/HbS) ki klinikurad janmrTelebi arian. isini Jangbadis naklebobas
mxolod Zlieri datvirTvisas an, magaliTad, zRvis donidan 3000 metrze yofnisas ganicdian.
samagierod, im qveynebSi, sadac farTodaa gavrcelebuli malaria, gansakuTrebiT
afrikasa da aziaSi, namglisebrujreduli anemiis genis mixedviT heterozigoti adamianebi
malariiT ar avaddebian. es imiT aixsneba, rom am daavadebis gamomwvevi malariis plazmodiumi
anomaliuri S hemoglobinis Semcvel eriTrocitebSi ver mravldeba.
1. ris safuZvelze varaudoben, rom faraoni exnatoni an nikolo paganini
marfanis sindromiT iyvnen daavadebuli?
2. namglisebrujreduli anemia ufro xSirad iseT qveynebSi gvxvdeba, sadac
farTod aris gavrcelebuli malaria. SeecadeT, axsnaT es faqti.
zog yvavilovan mcenareSi wiTeli gvirgvinis furclebis
ganmsazRvreli dominanturi geni Rerosa da foTlis ZarRvebis
mowiTalo Sefervasac iwvevs. misi aleluri geni yvavilis TeTr
Seferilobas gansazRvravs da ar cvlis Rerosa da foTlis
mwvane Sefervas.
moyvarulma mebaRem ganizraxa, moeSenebina TeTryvaviliani
mcenareebi maT nazi aromatis gamo. yvavilebis maRaziaSi uTxres, rom
`wminda~ TeTryvavilian mcenareTa Teslebi ar hqondaT, radgan Teslebi
yvavilTa feris mixedviT gadarCeuli ar iyo. Teslebis paketebis warwerebis
mixedviT mebaRem gamoarkvia, rom maRaziaSi sami sxvadasxva meurneobis
Teslebi hqondaT. erT meurneobaSi Teslebi wiTelyvaviliani mcenareebis SejvarebiT
miiRes, meoreSi da mesameSi _ TeTri da wiTelyvavilebiani mcenareebis SejvarebiT.
maSin mebaRem sami sxvadasxva meurneobis Teslebi iyida da yoveli maTganidan asasi
Tesli daTesa. pirveli meurneobis Teslebidan aRmocenebuli mcenareebis 3/4 mowiTalo
ylortebiT iyo, meoredan _ mowiTalo ylortebi mxolod mcenareebis naxevars
hqonda, mesame meurneobis Teslebidan ki mxolod mowiTalo ylortebiani mcenareebi
aRmocenda.
1. rogori genotipebisa da fenotipis mcenareTa Teslebi hqonda TiToeul meurneobas?
2. aRmonacenebis ylortebis mixedviT SeZlebs Tu ara mebaRe imis garkvevas, romeli
mcenareebi iqneba TeTryvaviliani?
3. gansazRvreT, dominirebis romeli tipia (sruli Tu arasruli) am mcenareebSi?
4. moifiqreT, rogor miaRwios mebaRem Tavis mizans ise, rom aRarc axali Teslebis
yidva dasWirdes da arc mcenareebis Sejvareba.
53

54
1.13 letaluri genebi
cnobilia SemTxvevebi, rodesac agebulebasTan dakavSirebuli (morfologiuri) niS-
nis ganmsazRvreli geni organizmis sicocxlisunarianobazec zemoqmedebs. mutaciebis
Sedegad warmoqmnili aseTi alelebi xSirad ujredul struqturebs da maTSi mimdinare
bioqimiur procesebs arRveven. maT zogjer dominanturi efeqti aqvT, zogjer ki _
recesiuli. genebs, romlebic sicocxlesTan SeuTavsebel gamovlinebebs iwveven, letaluri
ewodeba. letaluri efeqti homozigotur mdgomareobaSi bevr recesiul alels
axasiaTebs. aseTia, magaliTad, qlorofilis masinTezirebel genebSi momxdari mutacia,
romlis drosac mcenare qlorofilis sinTezis unars kargavs. amis Sedegad TeTri mutantebi
(albinosi mcenareebi) Cndeba.
• ratom iRupebian albinosi mcenareebi, rogorc ki TeslSi sakvebi nivTierebebi gamoileva?
zogi dominanturi geni homozigotur mdgomareobaSi letalur efeqts amJRavnebs,
maSin, rodesac heterozigotur mdgomareobaSi is mxolod organizmis garkveul morfologiur
niSan-Tvisebas gansazRvravs. amis magaliTia adamianSi braqidaqtiliis
(damoklebuli TiTebi) gamomwvevi dominanturi geni (sur.1). homozigotur mdgomareobaSi
igi iwvevs nayofis daRupvas ganviTarebis adreul stadiaze, heterozigotur
mdgomareobaSi ki xelis TiTebis pirveli da meore falangebis SezrdiT da TiTebis
damoklebiT gamoixateba.
sur 1. braqidaqtilia: a) xelis garegnuli saxe; b) rentgenograma.
daakvirdiT suraTebs (sur.1), moZebneT damoklebuli TiTebi, maTi Sesabamisi
nebis Zvlebi da Sezrdili falangebi.
a b

letaluri genis moqmedebas naTlad asaxavs bewvis Seferi-
lobis damemkvidreba TagvebSi.
Tagvis yviTel Seferilobas (sur. 2) heterozigotur (Yy)
mdgomareobaSi myofi Y aleli iwvevs. homozigotebi (YY) em-
brionuli ganviTarebis adreul stadiaze iRupebian (sur.3.).
recesiul (yy) formebs ki Cveulebriv Savi, TeTri an yavisferi
bewvi aqvT. amgvarad, Y geni or niSan-Tvisebas gansazRvravs:
yviTel Seferilobas da letalurobas. sur. 2. yviTeli Tagvi
P
gametebi
F 1
x
Yy Yy
meiozi
1/4 YY 1/2 Yy 1/4 yy
sur. 3. yviTeli Seferilobis ganmsazRvreli
Y genis damemkvidreba TagvebSi
sur. 3-is mixedviT gaar-
kvieT:
1. rogori Tagvebi gaCndnen
yviTeli Tagvebis
Sejvarebisas?
2. rogori raodenobrivi
TanafardobiT daiTiSnen
F Taobis TeTri da
1
yviTeli individebi?
3. rogori iqneboda da -
TiS va, Y gens letaluri
efeqti rom ar
hqonoda?
daTiSvis atipurobis mizezis dasadgenad yviTeli mdedrebi Seajvares rogorc
yviTel, ise Sav mamrebTan. yviTel mamrebTan Sejvarebul Tagvebs saSvilosnoSi
mkvdari yviTeli Rlapebi aRmoaCndaT, SavebTan SejvarebulebSi ki aseTi ram ar
aRiniSneboda.
1. daadgineT, rogori genotipi eqnebodaT yviTeli da Savi bewvis mqone mSoblebs
da maT naSierebs.
2. SeadgineT am ori Sejvarebis sqema da axseniT miRebuli Sedegebi.
55

I
meliebis platinisferi bewvi kontroldeba
geniT, romelic mxolod heterozigotur mdgomareobaSi
arsebobs, radgan letaluri moqmedeba
axasiaTebs. platinisferi meliebis Sejvarebis
Sedegad miiRes platinisferi da movercxlisfro-
Savi meliebi 2:1 daTiSvis TanafardobiT. aseTi
2 : 1
Tanafardoba SeiZleba im SemTxvevaSi gvqondes,
Tu platinisferi meliebi heterozigotebi (Aa)
II
arian, Savebi ki _ homozigotebi (aa) imave genis
recesiuli alelebiT. ori dominanturi (AA) alelis
mqone homozigoturi individebi A alelis
letaluri efeqtis gamo ver cocxloben.
a) daaTvaliereT suraTi (sur. 5.) da CaatareT
platinisferi bewvis damemkvidrebis genetikuri
1 : 1
analizi. SearCieT aRniSvnebi, miuwereT meliebs
sur. 5. I platinisferi meliebis Sejvareba; genotipebi da Sesabamisi fenotipebi.
II gamaanalizebeli Sejvareba.
b) upasuxeT kiTxvebs:
1. rogori daTiSva miiReT platinisferbewviani da movercxlisfro-Savi meliebis Sejvarebis
Sedegad?
2. ra ewodeba aseT Sejvarebas?
3. ra SemTxvevaSi mimarTaven mas?
4. aRniSneT daTiSvis xasiaTi I da II Sejvarebis
dros.
5. axseniT aseTi daTiSvis mizezi orive SemTxvevaSi.
56
qaTmebSi aRmoCenilia bumbulis `sixuWuWis~ geni, rome-
lic homozigotur mdgomareobaSi fenotipurad bumbulis
arasrul ganviTarebas iwvevs (sur. 4). aseT qaTmebs Termoregulacia
erRvevaT, civdebian da advilad iRupebian.
1. riT axsniT im faqts, rom letaluri genebis
umravlesoba recesiulia?
2. SeiZleba Tu ara axlonaTesaurma Sejvarebam
letaluri efeqti gamoiwvios? pasuxi daasabuTeT.
sur. 4. xuWuWabumbuliani qaTami
sur. 6. platinisferi melia

Semajamebeli gakveTili
sisxlis jgufebis damemkvidreba
amocana 1. II jgufis sisxlis mqone dedas SeeZina bavSvi I
jgufis sisxliT. gansazRvreT, romeli jgufis sisxli SeiZleba
hqondes mamas?
A B
amocana 2. dedas I jgufis sisxli aqvs, mamas _ IV. SeiZleba
Tu ara maT Svilebs memkvidreobiT gadaeceT erT-erTi mSob-
α
lis sisxlis jgufi?
B
amocana 3. da-Zmas IV da I jgufis sisxli aqvT. gansazRvreT
mSoblebis genotipebi.
β
amocana 4. dedas I jgufis sisxli aqvs, mamas _ III. SeiZleba Tu
ara Svilebs dedis sisxlis jgufi gadaeceT memkvidreobiT?
amocana 5. ojaxSi, sadac dedas I jgufis sisxli aqvs, mamas
ki _ IV jgufisa, daibada daltoniki vaJi III jgufis sisxliT.
A
mSoblebi ferebs normalurad arCeven. gansazRvreT am ojaxSi
normaluri mxedvelobis mqone vaJis dabadebis albaToba da
misi SesaZlo sisxlis jgufebi.
β
α
amocana 6. II jgufis sisxlis mqone mSoblebs SeeZinaT hemofiliiT daavadebuli vaJi I
jgufis sisxliT. orive mSobeli janmrTelia. gansazRvreT, rogoria albaToba imisa, rom
am ojaxSi meore bavSvi janmrTeli daibados. daadgineT misi SesaZlo sisxlis jgufebi.
genTa urTierTqmedeba
amocana 7. cxenebSi balnis Seferiloba
ganisazRvreba ori wyvili araaleluri genis
epistazuri tipis urTierTqmedebiT. Savra
cxenebis Sejvarebis Sedegad Savra, qurana
(wablisferi) da
TeTri kvicebi
daibadnen. sqemis
mixedviT gamoicaniT,
rogori
genotipebi eqnebodaT
maT mSoblebs?
57

58
araalelur genTa urTierTqmedeba
amocana 8. qaTmebis bumbulis TeTr Seferilobas gansaz-
Rvravs ori wyvili araaleluri geni, romlebic erTmaneT-
Tan araa SeWiduli. erT-erTi wyvilis dominanturi geni ferad
bumbuls ganapirobebs, xolo recesiuli _ TeTrs. meore
wyvilis dominanturi geni Seferilobis gamovlenas Trgunavs,
recesiuli ki _ ara.
TeTri qaTmebis erTmaneTTan Sejvarebis Sedegad gamoiCeka
1680 wiwila. maTgan 315 Wrelbumbuliani iyo, danarCeni _
TeTri. gansazRvreT mSoblebisa da Wrelbumbuliani wiwilebis
genotipebi.
TeTri da Wreli bumbulis mqone qaTmebis SejvarebiT miiRes
5055 TeTri da 3033 Wrelbumbuliani wiwila. gansazRvreT mSoblebisa da STamomavlobis
genotipebi.
TeTri da Wreli bumbulis mqone qaTmebis SejvarebiT miiRes 915 Wreli da 916 TeTri
wiwila. gansazRvreT mSoblebisa da STamomavlobis genotipebi.
letaluri genebi
amocana 9.
1. daakvirdiT suraTs. rogori genotipis mqone cxvrebi iRupebian?
2. ra hqvia genebs, romlebic organizmis daRupvas iwveven?
3. rogori xasiaTi eqneba daTiSvas F ? 2
4. rogori Sejvareba unda Catardes, rom mxolod sicocxlisunariani cxvrebi daibadon?
x

3.2 qromosomaTa struqturuli mutaciebi
qromosomuli mutaciebi, anu aberaciebi, qromosomaTa struqturis mniSvnelovan
cvlilebebs gulisxmobs. es cvlilebebi zogjer imdenad didia, rom maTi danaxva sinaTlis
mikroskopiTac ki SeiZleba. qromosomuli aberaciebi xSirad fenotipze ufro
met gavlenas axdens, vidre genuri mutaciebi. qromosomaTa struqturuli
mutaciebia: delecia, duplikacia, inversia da translokacia.
delecia qromosomis ubnis dakargvaa. es ubani SeiZleba qromosomis
Sua nawilSi iyos, SeiZleba boloSi. am dros qromosoma genebis garkveul
raodenobas kargavs da mokldeba (sur. 1).
Tu deleciis Sedegad dakarguli nawili didia, maSin igi organizmis
sicocxlisunarianobaze moqmedebs da SeiZleba letaluri efeqti
hqondes an seriozul paTologiebSi gamoixatos. yvelaze gavrcelebulia
me-5 qromosomis nawilis dakargviT gamowveuli anomalia, romelic ka-
sur. 1. delecia tis knavilis sindromis saxeliT aris cnobili. es daavadeba pirvelad
1963 wels frangma pediatrma Jerom leJenma
aRwera. yoveli 50000-dan erTi axalSobili
am anomaliiT ibadeba.
• daakvirdiT suraTze (sur. 2) qromosomebis
homologiur wyvilebs. ra gansxvavebaa
me-5 wyvilis qromosomebs Soris?
katis knavilis sindromiT dabadebuli
bavSvebisTvis damaxasiaTebelia sxeulis
sur. 2. katis
mcire wona (dabade-
knavilis sindromi
bisas 2,5 kg), patara,
mTvaris formis Tavi, Tvalebis iribi Wrili da saxis araproporciuli
nakvTebi (sur. 2). xSirad aseT bavSvebs Tandayolili gulis
manki da Sinagani organoebis ganuviTarebloba aReniSnebaT.
xSiria aseve mxedvelobis, smenisa da metyvelebis problemebi.
aseT bavSvebs Zalian viwro xorxi aqvT, amitom maTi tirili katis
knavils waagavs. aRwerilia SemTxveva, rogor eZebda aseTi
tirilis gamo mTel samSobiaroSi eqimi katas. asakis matebasTan
erTad xorxi farTovdeba, amitom bavSvis tirili katis knavilis
msgavsi aRar aris, samagierod ufro ikveTeba daavadebis
sxva niSnebi (sur. 3): patara da mogrZo formis Tavi, Tvalebis sur. 3. asakis matebasTan
erTad daavadebis sxva
iribi Wrili, sielme da agreTve nervuli sistemis funqciuri
niSnebi ikveTeba
97

darRvevebi. aseTi bavSvebis sicocxlis xangrZlivoba damokidebulia imaze, Tu ramdenad
gamoxatulia daavadebis simptomebi, umravlesoba ki 10 wlis asaks ver aRwevs.
sainteresoa deleciis erT-erTi SemTxveva, romelic adamians Sidsisgan icavs. me-3
qromosomaSi lokalizebuli CCR5 geni limfocitebis zedapirze arsebuli CCR5 ci-
lis Semcveli receptorebis sinTezs ganapirobebs. adamianis imunodeficitis virusi
(aiv) swored am receptorebs ukavSirdeba (sur. 4). rodesac me-3 qromosomis CCR5 genis
delecia xdeba, CCR5 -s nacvlad sxva cila _ CCR5-Δ32 warmoiqmneba, romelsac aiv ver
scnobs. amitom aseTi mutaciis matarebel adamianebs Sidsi ar emarTebaT.
duplikacia (sur. 5 a.) qromosomis garkveuli
nawilis gaormagebaa, romelic SeiZleba ramdenjerme
gameordes. mag., drozofilaSi aRwerilia qromosomis
ubnis rvajer gaormageba. cxadia, am dros imatebs
genebis raodenoba, rac organizmze gacilebiT
naklebad moqmedebs, vidre maTi ukmarisoba. amitom
fenotipze duplikacia naklebad aisaxeba, vidre delecia.
inversia (sur. 5 b.) qromosomaSi genebis ganlagebis
Secvlaa. am dros xdeba qromosomis fragmentis
amovardna, 180°-iT Sebruneba da isev Tavis adgilas
dabruneba. genebis raodenoba am dros ar mcirdeba, sur. 5. a. duplikacia, b. inversia
amitom fenotipis Secvlac naklebad xdeba.
translokacia arahomologiur qromosomebs Soris ubnebis gacvlaa. arsebobs translokaciis
ramdenime tipi.
98
limfocitis membrana
CCR5-Δ32
sur. 4. aiv limfocitis membranasTan
CCr5
aiv

da SeadareT erTmaneTs.
sur. 7-ze asaxulia
adamianis kariotipi.
daadgineT am adamianis
sqesi. romeli
qromosomuli aberaciebi
SeiniSneba am
kariotipSi?
sur. 7. adamianis kariotipi
daakvirdiT suraTs, romelic translokaciis or sxvadasxva
tips asaxavs (sur. 6). aRwereT TiToeul suraTze naCvenebi movlena
homozigotebSi translokacia metwilad le-
talur efeqts iwvevs. heterozigotebSi ki daavadeba
iSviaTad vlindeba. mag., translokacia
adamianis me-9 da 22-e wyvilebis qromosomebs
Soris, SemTxvevaTa 95%-Si qronikuli leikemiis
erT-erT formas ganapirobebs.
sur. 6. translokacia
1. ra ZiriTadi gansxvavebaa trans-
lokaciasa da sxva qromosomul
aberaciebs Soris?
2. aRwerili aberaciebidan yvelaze
mZime paTologiebis saxiT deleciebi
vlindeba. axseniT, ratom.
99

4.2 genuri inJineria
• ra gsmeniaT genuri inJineriis Sesaxeb?
• am dargis ra miRwevebi SegiZliaT daasaxeloT?
genuri inJineriis istoria im naSromebidan iwyeba, romlebmac aCvenes, rom ujredebisa
da organizmebis genetikuri masala mizandasaxulad, winaswar SemuSavebuli modelis
mixedviT SeiZleba Seicvalos.
Tanamedrove bioteqnologiaSi ZiriTadad baqteriuli ujredebi gamoiyeneba,
romelTac swrafi gamravlebis unaris gamo SeuZliaT, nebismieri raodenobiT `awarmoon~
maT mier sinTezirebuli nivTierebebi. magram baqteriebs ar SeuZliaT adamianebis,
mcenareebisa da cxovelebisaTvis damaxasiaTebeli fermentebis, hormonebisa da
imunuri cilebis sinTezi. imisaTvis, rom baqteriam es SeZlos, saWiroa misi genetikuri
aparatis cvlileba.
ra Tqma unda, genebis cvlileba SesaZlebelia mutagenebis zemoqmedebiT, magram
aseTi cvlilebebis gakontroleba da saWiro mimarTulebiT warmarTva SeuZlebelia.
imi saTvis, rom ujredma misTvis uCveulo
(magram adamianisTvis saWiro) nivTierebebi
gamoimuSaos, aucilebelia, misi genebi
mizandasaxulad Seicvalos. genuri inJineria
organizmTa genetikur aparatSi mizanmimarTulad
Carevis SesaZleblobas
iZleva.
Tanamedrove genuri inJineria gulisxmobs
im meTodebsa da teqnologiebs,
romelTa gamoyenebiT SesaZlebelia rekombinantuli
genetikuri masalis miReba.
kerZod, genuri inJineriiT SesaZlebelia
ujredebidan genebis gamoyofa, maTi Secv-
sur.1. fagebi kargad mravldeba A StamSi,
B StamSi ki _ cudad
la da sxva organizmSi Seyvana.
mikroorganizmebze Catarebuli eqsperimentebis
dros gamoirkva, rom baqteriebis erTi Stamidan gamoyofili fagebi cudad
mravldeba baqteriaTa meore StamSi, amrigad, cxadi gaxda, rom baqteriebSi aris
sistema, romelic baqteriofagebis gamravlebas blokavs (sur. 1). es baqteriuli fermentebis
jgufia, romelTac restriqtazebi uwodes. isini hidrolizis gziT xleCen
nukleinis mJavebs, Tanac ara bolodan, aramed SuaSi. TiToeuli restriqtaza nukle-
115

otidTa gansazRvrul Tanmimdevrobas cnobs, romelTac restriqciuli saitebi ewodeba
(sur. 2). restriqtazebi Slian baqteriis ujredSi moxvedril ucxo dnm-s, radgan maTi
ZiriTadi funqciaa ujredis dacva baqteriofagebisa da plazmidebisagan.
1978 wels verner arberma,
daniel natasma da hamilton
smitma restriqciuli fermentebis
aRmoCenisTvis nobelis
premia miiRes. restriqtazebis
aRmoCenam biZgi misca ge-
restriqtaza
nuri inJineriis ganviTarebas.
amJamad restriqtazebi da sxva
fermentebi _ ligazebi genuri
inJineriis mniSvnelovani in-
restriqciuli saiti
strumentebia. restriqtazebi
sur.2. restriqtazas mier dnm-s fragmentis gaWra specifikur saitSi genebs nakuwebad Wrian, xolo
ligazebi aseT nakuwebs awebeben.
amgvarad, iqmneba genebis axali kombinaciebi da ase, xelovnurad awyobili genebi
CaSendeba veqtorSi (es virusi an plazmidis dnm-a). veqtors ki saWiro geni sxva organizmSi
gadaaqvs (sur. 3). am amocanis gadasawyvetad Semdegi etapebia saWiro:
1. genis izolireba organizmidan;
restriqciuli saiti
2. genis Seyvana veqtorSi;
3. veqtoris gadatana saWiro orga- plazmida
nizmSi;
restriqciuli saitebi
4. misi ujredebis gardaqmna;
5. im organizmTa SerCeva, romelTa
ucxo dnm
genetikuri modificireba warmatebiT
saWiro geni
ganxorcielda.
genuri inJineriis miRwevebma SesaZ-
dnm-s fragmenti, romelic
lebeli gaxada baqteriis mikrosko-
saWiro gens Seicavs
pul fabrikad gadaqceva, romelic
samkurnalo preparatebs asinTezebs.
pirvel rigSi aRsaniSnavia insulinis
sinTezi. es cilovani bunebis hormonia,
romelsac pankreasi gamoimuSavebs.
insulini sisxlSi glukozis
saWiro genis Semcveli
rekombinantuli veqtori
Semcvelobas aregulirebs. insulinis
ukmarisoba, romelic pankreasis dazianebiTaa
gamowveuli, Saqrian dia- sur.3. veqtoris _ rekombinantuli plazmidis
bets iwvevs. am daavadebis sruli momzadeba
116

gankurneba ar xdeba, amitom avadmyofs yoveldRe sWirdeba insulinis inieqcia. Tavi-
dan insulins Zroxis pankreasidan iRebdnen. 100 grami insulinis misaRebad 800 aTasi
jirkvali iyo saWiro. amave dros preparats alergiuli reaqciebi da sxva garTulebebi
axlda.
amJamad insulinis misaRebad gamoiyeneba genmodificirebuli baqteria _ nawlavis
Cxiri, romlis genomSic adamianis insulinis warmoqmnis ganmsazRvreli genia Canergili.
baqteriebi Sesabamis pirobebSi udidesi siswrafiT mravldebian, amitom Zalian mcire
droSi maT SeuZliaT didi raodenobiT warmoqmnan TavianTi cxovelqmedebis produqtebi,
maT Soris, adamianis insulini. Saqriani diabetiT daavadebulTa ricxvi dRiTi dRe
izrdeba da Sesabamisad izrdeba moTxovnileba insulinze. amitom genuri inJineriis
gziT insulinis masinTezirebeli baqteriebis Seqmna mecnierebis erT-erTi udidesi
adamianis ujredi
adamianis
qromosomebi
recipienti baqteria
qromosomebi
insulinis warmoqmnisTvis
saWiro geni
insulinis
warmoqmna
baqteria
sur.4. adamianis insulinis masinTezirebeli
genmodificirebuli baqteriebis Seqmna
plazmidebi
gamoyofili
plazmida
fermentis mier
gaWrili plazmida
genis CarTva plazmidaSi
plazmida
insulinis genis
mqone plazmida
baqteriaSi
117

118
miRwevaa (sur. 4).
adamianisa da cxovelis virusiT inficirebuli
ujredebi gamoimuSaveben gansakuTrebul nivTierebas
_ intenferons (igi 1957 wels aRmoaCines). intenferoniT
acra bevri virusuli daavadebisgan (mag., gripisgan)
daicavda adamians, magram erTi litri sisxlidan
mxolod erTi adamianis acrisTvis saWiro raodenobis
intenferonis miRebaa SesaZlebeli. mecnierebma aqac
imave xerxs mimarTes. Seqmnes adamianis intenferonis
masinTezirebeli genebis Semcveli dnm-s molekula da
plazmidaSi Canerges. ase `gamozardes~ intenferonis
ganusazRvreli raodenobiT masinTezirebeli baqteria.
msgavsi xerxebiT aiZules nawlavis Cxiri, daasinsur.
5. giganturi virTagva
Tezos zrdis hormoni somatotropini. am hormons
didi xania icnobs medicina. misi meSveobiT SeZles gamoeyvanaT giganturi virTagvebi
(sur. 5). somatotropini 1956 wels gamoyves da maSinve daiwyes misi gamoyeneba qon-
suraTze mocemulia genmodi-
ficirebuli baqteriis Seqmnis procedura,
romelsac mcenareuli hormonis
_ citoqininis sinTezis unari aqvs.
aRwereT am proceduris etapebi da
gaukeTeT suraTs Sesabamisi warwerebi.
mcenaris ujredi baqteria
sur. 6

132
4.7
TiTebis anabeWdebi da genomuri
daqtiloskopia
yovel adamians xelis TiTebze kanis reliefuri xazebi aqvs.
es xazebi TiTis zedapirze gansakuTrebul naxats (qargs) qmnis,
riTac TiToeuli adamiani nebismieri sxva adamianisagan gansxvavdeba
(sur. 1). Tu TiTze raime saRebavs waisvamT da Semdeg
sufTa furcels SeaxebT, miiRebT TiTis anabeWds _ reliefuri
xazebis unikalur, mxolod Tqveni TiTisTvis damaxasiaTebel
sur. 1. TiTis zedapiris reliefuri
xazebi
naxats (sur. 2). albaT iciT, rom TiTebis anabeWdebis mixedviT
nebismieri adamianis amocnobaa SesaZlebeli.
me-19 saukunidan sagamoZiebo praqtikaSi dainerga daqtiloskopia (berZn. `daqtilos~
_ TiTi, `skopeo~ _ vuyureb) _ pirovnebis gamocnobis (adamianis identificirebis)
meTodi TiTebis anabeWdebis mixedviT (sur. 3).
adamiani Tavisi TiTebis anabeWdebs saRebavis wasmis
gareSec tovebs im sagnebze, romelTac exeba. specialuri
meTodebiT SesaZlebelia am anabeWdebis
aReba da maTi Sedareba sxvadasxva eWvmitanili ada-
sur. 2. TiTis anabeWdi
mianis anabeWdebTan. amitom daqtiloskopias dRemde
warmatebiT iyeneben kriminalistikaSi damnaSaveTa amosacnobad. magram rogor unda
amoicnon pirovneba maSin, rodesac igi danaSaulis
adgilze TiTebis anabeWdebs ar tovebs?
me-20 saukunis bolos sasamarTlo praqtikaSi
dainerga axali meTodi: genomuri daqtiloskopia,
romelic molekuluri biologiis erT-erT
mniSvnelovan aRmoCenas efuZneba. am meTodiT
pirovnebis identificireba SesaZlebelia mis
ujredebSi arsebuli dnm-s molekulebis analizis
safuZvelze. genomuri daqtiloskopiiT
sur. 3. TiTebis anabeWdebis momzadeba
SeiZleba dadgindes damnaSavis vinaoba mis mier daqtiloskopiisTvis
danaSaulis adgilze datovebuli sisxlis wveTis, kanidan aqerclili ujredebis, Tmis
bolqvis an spermis mcire raodenobis mixedviT.
adamianis genomSi dnm-s nukleotidTa Tanmimdevrobis TiTqmis 99,9% erTnairia yvela
adamianisaTvis. miuxedavad amisa, arsebobs e. w. variabeluri ubnebi _ iseTi nukleotiduri
jgufebi, romelic individualuria TiToeuli adamianisaTvis da ganasxvavebs
mas sxva adamianebisagan. amitom adamianis genomi unikaluria da sruliad erTnairi
mxolod identur tyupebs aqvT.

genomuri daqtiloskopia swored nukleotid-
Ta gansxvavebuli jgufebis _ variabeluri ubnebis
gamovlenas gulisxmobs. amisaTvis pirvel
rigSi unda moxdes dnm-s gamoyofa adamianis
ujredebidan da Semdeg misi dayofa fragmentebad.
rogorc iciT, baqteriebidan gamoyofil
fermentebs _ restriqtazebs aqvT unari, dnm-s
molekulebi mcire zomis fragmen tebad daWran. sur. 4. gel-eleqtroforezis Sedegad miRebuli
dnm-s fragmentebis suraTi
amis Semdeg specialuri bioqimiuri meTodiT _
gel-eleqtroforeziT xdeba am fragmentebis gancalkeveba maTi
zomebis mixedviT. suraTze (sur.4.) mocemulia 6 adamianis dnm-s
fragmentebi, romlebic variabelur ubnebs Seicavs.
genomuri daqtiloskopiis meTodi daamuSava ingliselma mecnierma
alek jefrisma (sur.5). 1987 wels inglisis policiam pirvelad
gamoiyena es meTodi damnaSavis gamosavlenad. amisaTvis 4500 adamians
Cautarda genomuri analizi da dadginda mkvlelis vinaoba,
romelmac ori gogonas sicocxle imsxverpla.
amJamad es meTodi farTod gamoiyeneba sasamarTlo eqsper-
sur. 5. alek jefrisi tizaSi ara marto damnaSaveTa gamosavlenad, aramed adamianTa Soris
naTesauri kavSirebis (mag., mamobis) dasadgenad.
• moifiqreT, rogor adgenen mamobas genomuri daqtiloskopiis gamoyenebiT.
genomuri daqtiloskopiis Teoriuli da gamoyenebiTi problemebis
gadaWraSi did wvlili miuZRvis qarTvel mecniers apolon jin-
WaraZes (sur.6.). man daamuSava individTa identificirebis meTodebi
mcenareebis, cxovelebisa da mikroorganizmebisaTvis da misi eqsperimentebis
Sedegad genomuri daqtiloskopiis meTodma universaluri
saxe miiRo. apolon jinWaraZe moulodnelad gardaicvala
25 wlis asakSi. mas sikvdilis Semdeg mieniWa ruseTis federaciis
saxelmwifo premia. unda aRiniSnos, rom aseTi premia qarTvel mecnierTagan
mxolod ivane beritaSvils xvda wilad.
gel-eleqtroforeziT dnm-s fragmentebis da- sur. 6.
apolon jinWaraZe
calkeveba dnm-s sakmaod mniSvnelovan raodenobas
moiTxovs. magram zogjer saWiroa pirovnebis identificireba misi sul
ramdenime ujredis an gaxrwnili gvamis ukve daSlili qsovilebis mixedviT.
cxadia, aseT SemTxvevaSi ujredebidan gamoyofili dnm analizis
Casatareblad sakmarisi ar iqneba. am problemis gadasaWrelad dRes
warmatebiT iyeneben polimerazuli jaWvuri reaqciis (PCR – Polymeraze
Chain Reaction) meTods (pjr-s). meTodi daamuSava amerikelma mecnierma
keri mulisma (sur.7.), risTvisac mas nobelis premia mieniWa.
sur. 7. keri mulisi
133

gacxelebiT axdenen dnm-s fragmentebis denaturacias (am dros misi jaWvebi calkevdeba).
Semdeg ferment dnm-polimerazas gamoyenebiT denaturaciis Sedegad miRebul Ti-
Toeul jaWvze misi komplementuri jaWvi aiwyoba. ase miiReba erTi fragmentidan misi
sur. 8. polimerazuli jaWvuri reaqciis I etapi
ori asli (sur. 8). amis Semdeg yvelaferi Tavidan meordeba da amrigad, xdeba nimuSis
dnm-s calkeuli ubnebis mravaljeradi kopireba _ amflipicireba. dnm-s saWiro ubnebi
yovel 5 wuTSi ormagdeba da mokle
droSi SesaZlebelia sul 50
leikocitidan gamoyofili dnmdan
genomuri daqtiloskopiisTvis
sakmao raodenobis sakvlevi
masalis miReba (sur. 9).
134
1. sinTezis reaqciebis romel tips miakuTvnebT polimerazul jaWvur
reaqcias?
sur. 9. pjr-s Sedegad nebismieri
raodenobis dnm-s miRebaa SesaZlebeli
2. ujredSi mimdinare romeli matriculi reaqciis analogiuria pjr?