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genetikuri safuZvlebi
biologiuri safuZvlebi, 8 genetikuri kodi *sqesobrivi
ujredebi * biWia Tu gogo? *
prenataluri ganviTareba mravali memkvidre * genetikuri
memkvidreobis peternebi? * qro-
da dabadeba mosomuli anomaliebi
reproduqciuli arCevani
* samedicino-genetikuri konsul-
tacia * prenataluri diagnistika
da nayofis medicina * kvlevidan
`gogoa!~ acxadebs eqimi. mas xelSi patara mwivana ` arseba ukavia, praqtikisaken: reproduqtiuli
mSoblebi ki gaognebulebi misCerebian TavianT gasaocar qmnilebas. teqnologiebis dadebiTi da
`gogoa! saras varqmevT!~ amayad amcnobs mama cnobismoyvare naTesavebs, uaryofiTi mxareebi
romlebic mouTmenlad elodebian, rom telefoniT mainc gaigon raime prenataluri (dabamdebamdeli)
ojaxis axali wevris Sesaxeb. ganviTareba
Tuki mSoblebTan erTad davfiqrdebiT, rogor moevlina am qveya- *Casaxva *zigotis periodi
nas es araCveulebrivi arseba da mis momavals warmovidgenT, uamravi *embrionobis periodi *nayofis
SekiTxva gagviCndeba. rogor `moaxerxa~ am pataram, romelsac amJamad – erTi da igive araa? periodi
yvelaferi, rac ki arsebobisaTvis sWirdeba, saSvilosnos gareT aqvs, prenataluri garemos gavlena
ori pawawina ujredis gaerTianebis Sedegad ganviTarda? ra garantia *teratogenebi * sxva dediseuli
gvaqvs, rom droTa ganmavlobaSi sara yvela sxva manamade movlenili faqtorebi *biologia da garemo:
normaluri bavSviviT SeZlebs gadabrunebas, siaruls, laparaks, dame- prenataluri garemo da Semdgomi
gobrebas, warmosaxvasa da Seqmnas? ratom aris is gogo da ara biWi, janmrTeloba
muqTmiani da ara qera, mSvidi da mimzidveli da ara daZabuli da aqti- Ddabadeba
uri? eqneba Tu ara gavlena imas, rom sara swored am konkretul ojaxSi, *bavSvis adaptacia mSobiarobisa
sazogadoebaSi, qveyanasa da kulturaSi gaizrdeba da ara sxvaSi? da dabadebisadmi *axalSobilis
am kiTxvebze kamaTi genetikuri safuZvlebis gansaxilvelad davi- garegnoba *axalSobilis fizi-
wyeT. raki bunebam gadarCenisaTvis mogvamzada, yvela adamians raRac kuri mdgomareobis Sefaseba:
saerTo Tvisebebi gvaqvs, magram amave dros yoveli Cvengani ganumeo- apgaris skala
rebelia. ramdenime wuTiT nacnob bavSvebze dafiqrdiT. mokled CainiS- Sexedulebebi mSobiarobis
neT yvelaze aSkara fizikuri da qceviTi msgavsebebi maTsa da maT mSo- Sesaxeb
blebs Soris. SeamCnieT Tu ara, rom erTi bavSvi orive mSobels hgavs, *bunebrivi, anu momzadebuli
meore – mxolod erTs, xolo mesames – arcerTs? uSualod TvaliT Sesa- mSobiaroba *saxlSi mSobiaroba
mCnevi es Taviseburebebi fenotipis saxelwodebiT aris cnobili. isini * mkurnaloba mSobiarobisa da
nawilobriv damokidebulia individis genotipze – genetikuri infor- Sobis- iqneb dabadebis Semdgom?
maciis rTul nazavze, romelic Cvens saxeobas gansazRvravs da yvela periodSi.
Cvens unikalur Taviseburebaze axdens gavlenas. mogvianebiT vnaxavT, mSobiarobis garTulebebi
rom garemo, romelmac Casaxvamdec ki SeiZleba imoqmedos, fenotipzec *Jangbadis nakleboba *dRenakli
axdens zegavlenas. da mcirewoniani Cvilebi *mSo-
jer davakvirdebiT prenatalur (dabadebamdel) ganviTarebas - biarobis garTulebebi, movla-
yvelaze swrafi zrdis periods, romlis ganmavlobaSi memkvidreobasa visi? da sicocxlisunarianoba
da garemos Soris rTuli urTierTqmedeba arsebiT gavlenas axdens *socialuri sakiTxebi: mSobelTa
bavSvis janmrTelobasa da keTildReobaze. Semdeg ganvixilavT dabade- da CvilTa jandacvisa da sxva
bas da im CvilTa winaSe arsebul problemebs, romlebic mcire wonisani politikis erovnebaTSorisi
an vadaze adre moevlinnen qveyanas. persepeqtiva
bunebisa da aRzrdis gavlenis Sesaxeb zogierTma kvlevam SesaZloa memkvidreoba, garemo da qceva:
sagonebelSi CagagdoT. magaliTad, bevri Tvlis, rom araxelsayreli momavlis perspeqtiva
memkvidreobis mqone bavSvebis dasaxmareblad bevris gakeTeba ar Segvi- *kiTxva: `ramdeni?~ *kiTxva: `ro-
Zlia, zogs ki hgonia, rom Zalze advilia araxelsayreli garemos mier gor?~ *biologia da garemo: ge-
miyenebuli zianis gamosworeba. vnaxavT, rom arc erTi mosazreba ar netikuri da garemo korelaciis
gamijvna fsiqikuri aSlilobisa
da asocialuri qcevisas.
94
citoplazma
birTvi
qromosomebi
sqema 3.1
adamianis qromosomebis kariotipi anu foto. marcxniv gamosaxuli 46 qromosoma gamoacalkeves adamia-
nis ujredidan, SeRebes, mniSvnelovnad gaadides da zomis klebis mixedviT wyvilebad daalages TiToeu-
li ganapira qromosomis Sesabamisad. yuradReba miaqcieT 23-e – XY wyvils. ujredis donori mamrobiTia.
mdedrobiT ujredSi 23-e XX wyvili iqneboda.
© CNRI/ Science Photo Library/ Photo Researchers
aris swori. am Tavis bolo nawilSi ganvixilavT rogor ayalibebs erToblivad garemo da
aRzrda ganviTarebis kurss.
genetikuri safuZvlebi
TiToeuli Cvengani agebulia trilionobiT erTeulisagan, romelTac ujreds uwo-
deben. yoveli ujredis SigniT sakontrolo centri, anu birTvia, romelic, Tavis mxriv,
Cxiriseburi struqturis qromosomebs _ genetikuri informaciis Semnaxvel da gadam-
cem struqturebs Seicavs. maTi raodenoba saxeobebis mixedviT icvleba – Simpanzes 48
aqvs, cxens – 64, Tagvs – 40, xolo adamians _ 46. adamianis qromosomebi 23 wyvilad arse-
bobs (gamonaklisia XY wyvili mamrSi, romelsac mokled ganvixilavT). yoveli wyvilis
erTi wevri zomiT, formiTa da genetikuri funqciiT dedisagan memkvidreobiT miRebul
qromosomas Seesabameba, meore ki – mamisagan miRebuls (ix. sqema 3.1).
genetikuri kodi
qromosomebi Sedgeba qimiuri nivTierebisagan, romelsac deoqsiribonukleiduri
mJava anu dnm ewodeba. rogorc 3.2 sqema gviCvenebs, dnm aris grZeli, ori erTmaneTze
gadaxveuli, dagrexili misadgmeli kibis msgavsi molekula. kibis yoveli safexuri saba-
ziso qimiuri nivTierebisagan Sedgeba. miuxedavad imisa, rom bazisi yovelTvis erTnai-
rad wyvildeba kibis safexurebis gaswvriv _ A T-sTan, C G-sTan aq tire xom ar unda?
, isini SeiZleba dalagdes gverdebis gaswvrivac. es aris bazis wyvilebis Tanmimdevru-
loba, rac genetikur wyobas uzrunvelyofs. geni aris dnm-is segmenti qromosomebis
gayolebiT. igi SeiZleba iyos sxvadasxva sigrZisa _ 100-dan ramdenime aTasi kibis safex-
uris sigrZisa. adamianis qromosomaSi daaxloebiT 20-25 aTasi genia (International Human
Genome Sequencing Consortium, 2004).
95
C A Zveli 1
axali 1 G
C A T T
C A G
A
G axali 1
C T T C
A
G C
T
G
G
C T
C T G C G
T A
A C Zveli 1
T A C C A A axali 2
A G G G
T G C T
T A
G
C C G
T A G T T
A C T C
G C G T
G A
C A axali 2
T TA A
sqema 3.2
dnm-is kibiseburi struqtura. sqema gviCvenebs, rom fuZeTa Sewyvileba kibis safexurebs Soris metad
specifikuria: adenaini (Adenine) (A) yovelTvis Sewyvilebulia timainTan (Thymine) (T), citocaini
(cytosine) (C) yovelTvis - guanainTan (guanine) (G). aq dnm-is kibe ordeba - ixliCeba kibis safexurebis
SuaSi. yoveli Tavisufali fuZe miierTebs axal Semavsebel partniors ujredis birTvis garemomcveli
aridan.
2004). amrigad, TviT aseT mikroskopul donezec ki, biologiuri movlenebi genetikuri
da aragenetikuri Zalebis Sedegia.
sasqeso ujredebi
axali individis Sesaqmnelad gametebi anu ori specialuri sasqeso ujredi _ sperma
da kvercxujredi _ unda SeerTdes. gameta mxolod 23 qromosomas anu adamianis Cveu-
lebrivi ujredis naxevars Seicavs. gametebi warmoiqmneba meiozis _ ujredis dayofis
procesSi, romlis drosac Suaze iyofa adamianis ujredebSi Cveulebriv arsebul qro-
mosomaTa raodenoba. spermisa da kvercxujredis SeerTebis Sedegad ganayofierebis
dros warmoqmnil ujreds, romelsac zigota ewodeba, aseve 46 qromosoma eqneba.
3.3 sqemis Sesabamisad meiozisi etapobrivad mimdinareoba. Tavidan qromosomebi sawy-
is ujredSi wyvildeba da TiToeuli Tavisnairs warmoqmnis. Semdeg, gansakuTrebuli mov-
lenis Sedegad, romelsac gadakveTa ewodeba, xdeba sigrZis gaswvriv qromosomebis Tan-
mimdevruli daSla ramdenime nawilad da segmentebis gacvla ise, rom genebi erTimeoris
adgils ikaveben. genebis es ganawileba axal memkvidrul kombinacias qmnis. Semdeg, qro-
spermis produqcia
zigota
kvercxujredis produqcia
ganayofiereba
sqema 3.3 ujredis dayofis procesi meozis dros gametis formirebamde (aq
sawyisi ujredebi warmodgenilia 2 wyvili qromosomiT sruli 23 wyvilis
nacvlad). meozi hqmnis gametebs qromosomebis Cveulebrivi ricxvis mxolod naxevridan. rodesac sperma
da kvercxujredi erTdeba Casaxvis dros, axali individis pirvel ujreds (zigotas) ukve qromosomTa
sruli ricxvi aqvs.
97
gogo Tu biWi?
davubrundeT 3.1 sqemas da yuradReba mivaqcioT qromosomTa 22 Sesabamis wyvils,
romelsac genetikosebi nomraven yvelaze grZelidan (1) yvelaze moklesaken (22). maT
autosomebi ewodeba (igulisxmeba ara sqesobrivi qromosomebi). ocdamesame wyvili sqe
sobrivi qromosomebisagan Sedgeba. qalebSi am wyvils XX-iT aRniSnaven, mamakacebSi ki
_ XY-iT. X aris SedarebiT didi qromosoma, maSin, rodesac Y aris mokle da mcire ge-
netikuri materiis gadamtani. kacebSi gametebis formirebis dros X da Y qromosomebi
sxvadasxva spermul ujredSi gancalkevdeba, xolo qalebSi warmoqmnil yvela gameta-
Si aris X qromosoma. aqedan gamomdinare, axali organizmis sqesi gapirobebulia imiT,
romeli sperma gaanayofierebs kvercxujreds _ X-is matarebeli, Tu Y-is. dReisaTvis
mecnierebma SeZles 3 genis gamocalkeveba Y qromosomaSi, romelTa rolic gadamwyvetia
mamakacis sqesobrivi ganviTarebisaTvis _ erTi, ro-
melic apirobebs hormonebis warmoqmnas mamakacSi da
ori monawileobs mamakacis sasqeso organoebis Camoya-
libebaSi. mecnierTaTvis cnobilia isic, rom aris kidev
sxva, Seuswavleli genebi, romlebic gavlenas axdenen
sqesobriv maxasiaTeblebze (Cotinot da sxvebi, 2002).
memkvidreTa simravle
zogjer zigota, romelic gaormagebas iwyebs, uj
redTa or jgufSi gancalkevdeba, ris Sedegadac ori
individi viTardeba. maT ewodeba identuri anu mo
nozigoturi tyupebi, radgan erTnairi genetikuri
agebuleba aqvT. identuri tyupebis Sobadobis sixSire
erTnairia mTel msoflioSi - daaxloebiT 1 yovel 285
dabadebulze (Zach, Pramanik, & Ford, 2001). cxovelTa
gamokvlevam cxadyo mravalferovani garemos zegavle- es identuri anu monozigoturi tyupi gaCnda, rodesac
na, romelic xels uwyobs am tipis tyupebis gaCenas, tem- gaormagebuli zigota daiyo ujredTaA or klasterad
da amis Sedegad ori erTnairi genetikuri agebulebis mqone
peraturuli, Jangbadis donis cvalebadobisa da kver-
individi ganviTarda. © Laura Dwight Photography
cxujredis dagvianebuli ganayofierebis CaTvliT.
98
faqtori daxasiaTeba
a monacemebi msoflios masStabiT ar moicavs Casaxvis abebis miRebis Sedegad Sobadobis zrdas.
wyaro: Bortolus da sxvebi, 1999; Mange ξ Mange,1998.
qromosomis erTsa da imave adgilze mdebare TiToeuli genis ori formidan erTi
dedisgan aris miRebuli, meore _ mamisgan. genis TiToeul formas aleli ewodeba. Tu
orive mSoblisgan miRebuli aleli erTnairia, bavSvi homozigoturia da memkvidreobiT
Tvisebebs gamoavlens. gansxvavebuli alelebis SemTxvevaSi bavSvi heterozigoturia da
alelebs Soris damokidebuleba gansazRvravs Tvisebas, romelic unda gamomJRavndes.
dominant-recesiuli naTesauri kavSirebi. bevr heterozigotur wyvilSi dominan
tur-recesiuli memkvidreobis dros mxolod erTi aleli axdens gavlenas bavSvis xa-
siaTze. mas dominanti ewodeba, meore alels, romelic ar mJRavndeba, recesiuli. mag-
aliTad ganvixiloT Tmis feri. muqi Tmis aleli aris dominanti (SegviZlia didi D-Ti
99
dominanturi recesiuli
autosomuri
daavadebebi
quleis sifermkrTale, fizikuri recesivi 1 yovel 500-ze xSiri sisxlis gadasxma;
(Cooley’s) zrdis Seferxeba, bavSvobaSi xmelTaSua zR- garTulebebis gamo
anemia dawyebuli apaTiuri qceva. vispireTSi sikvdili ufro xSiria
mozardobisas.
fenilketonuria bevr proteinSi Semcveli ami- rec. 1 yovel 800-ze bavSvis gadayvana
(ku) nomJava fenilalanis metabo- specialur dietaze,
(Phenylketonnuria lizmis uunaroba. rac aris. Sedegad miiRweva
PKU) iwvevs centraluri nervuli azrovnebis saSualo
sistemis seriozul dazianebas done da normaluri
sicocxlis pirvel wells. gana es cxovrebis SesaZle-
mkurnalobaa?! bloba SeumCneveli sir-
Tuleebi dagegmvasa da
problemis gadaWraSi.
namgala sisxlis wiTeli ujredebis rec. 1 yovel 600- sisxlis gadasxma,
ujredis anomaliuri morkalva, ze afrikuli tkivilgamayuCeblebi,
(Sickle cell) iwvevs Jangbadis naklebobas, warmoSobis swrafi antiinfeqci-
anemia tkivils, SeSupebas da qso- CrdiloeT uri mkurnaloba.
vilis dazianebas. anemia da amerikelSi. (mkurnalobis gareSe
mgrZnobeloba infeqciebis 50% sikvdilianoba
mimarT, gansakuTrebiT xSirad daaxloebiT 20wlis
emarTebaT filtvebis anTeba asakSi).
(pnevmonia).
Tai-saCis centraluri nervuli siste- rec. 1 yovel 3600- aranairi. iRupeba 3-dan
(Tay-Sachs) mis degeneracia, romelic 6 ze evropel 4 wlamde.
daavadeba Tvidan mJRavndeba, axasiaTebs ebraelebsa da
kunTebis susti tonusi, si- frang kanade-
brmave, siyrue da konvulsiebi. lebSi.
hantingtonis centraluri nervuli sistemis dominanti 1 yovel 18-25 aranairi. iRupeba simp-
daavadeba degeneracia, iwvevs kunTebis aTasze. tomis gaCenidan 10-20
koordinaciul sirTuleebs, weliwadSi.
azrovnebis gauaresebasa da
pirovnul cvlilebebs. simp-
tomebi Cveulebriv ar? Cndeba
35 wlamde an Semdgom.
marfanis maRali, Txeli aRnagoba; wvr- dominanti 1 yovel 2000- gulis da Tvalis de-
sindromi ili, dagrZelebuli mklavebi ze. feqtebis gasworeba.
da fexebi. gulis defeqtebi da
Tvalis anomaliebi, gansa-
kuTrebiT brolis. sxeulis
gadametebul dagrZelebas
mivyavarT ConCxis sxvadasxva
defeqtebamde.
X-Tan dakavSire-
buli daavadebebi
duCene kunTebis kunTebis degeneraciuli daa- rec. 1 yovel 3000- aranairi. daRupva
(Duchenne muscu- vadeba, gansxvavebuli siaru- 5000 mamakacze. sasunTqi infeqciis an
lar) distrofia li, siarulis unaris dakargva gulis kunTis dasus-
7-dan 13 wlis asakamde. tebisgan, Cveulebriv
zrdasrulobaSi.
hemofilia sisxlis Sededebis unaris rec. 1 yovel 4000- sisxlis gadasxma.
daqveiTeba. SeiZleba gamoiwvi- 7000 mamakacze. usafrTxoebis zomebi
os Zlieri Sinagani sisxldena Wrilobis safrTxis
da qsovilis dazianeba. Tavidan asacileblad.
Saqriani diabeti hormon vasz v Tu z ?opresi- rec. 1 yovel 2500 hormonebis Sevseba.
(Diabetes insipi- nis arasakmarisi gamomuSaveba mamakacze.
dus) gamoixateba gadametebul
wyurvilsa da Sardis gamoyo-
faSi. wylis balansis dar-
Rvevam SeiZleba gamoiwvios
centraluri nervuli sistemis
dazianeba.
SeniSvna: recesiuli daavadebebis matareblis statusis gamovlena SesaZlebelia perspeqtiuli mSoblebisTvis sisxlis testiT an
genetikuri analiziT. aq CamoTvlili yvela daavadebisaTvis mocemulia prenataluri diagnozi (ix. gv. 81)
wyaro: Behrman, Kliegman, ξ Arvin, 1996; Chodirker da sxvebi, 2001; Gott,1998; Grody,1999; Knoers da sxvebi,, 1993; McKu-
sick,1998; Schulman ξ Black,1997.
NN Np Np pp
mutacia rogor xdeba genis Tavdapirveli dazianeba? amis pasuxs iZleva muta-
cia - ucabedi, magram Seuqcevadi cvlileba dnm-is segmentSi. mutaciam SeiZleba mxolod
erTi an ori geni daazianos an mravali maTgani CaiTrios. mas, rogorc qromosomul dar-
Rvevas, mokled ganvixilavT. zogjer mutacia raime SemTxvevis gavleniT spontanurad
xdeba, zogjer ki mizezi SeiZleba garemos saxifaTo agenti iyos.
miuxedavad amisa, radiaciis araionizebuli formebis - eleqtromagnituri talRebi-
sa da mikrotalRebis - zemoqmedeba dnm-ze bolomde dadgenili ar aris. dadasturebu-
lia, rom ionizebuli radiacia (maRali energiebi) namdvilad aris mutaciis mizezi. qals,
romelmac radiaciis zemoqmedeba ganicada Casaxvamde, muclis moSlis an memkvidreo-
biTi defeqtebis mqone bavSvis gaCenis meti albaToba aqvs. genetikuri anomaliebi, ro-
goricaa fizikuri defeqtebi da kibo bavSvobis asakSi, aseve maRalia bavSvebSi, romelTa
mamebmac radiaciis zemoqmedeba ganicades. iSviaTi da susti radiaciuli zemoqmedeba
genetikur dazianebas ar iwvevs (Jacquet, 2004), magram xangrZlivi periodis ganmavlobaSi
moqmedi maRali dozebi SeiZleba dnm-is darRvevis mizezi gaxdes.
genetikuri anomaliebiT bavSvebi orsulobaTa 3%-ze nakleb SemTxvevaSi ibadebian.
miuxedavad amisa, isini im bavSvTa daaxloebiT 20%-s Seadgenen, romlebic CvilobaSive
iRupebian an mTeli cxovreba fizikurad da gonebrivad ganuviTareblebi rCebian (U.S de-
partment of Health and Human Services, 2004a). genetikur daavadebaTa Tavidan acileba da
mkurnaloba jer kidev bevrad CamorCeba aragenetikur daavadebaTa mkurnalobas, miuxe-
davad imisa, rom seriozuli nabijebia (rogorc mokled mimovixilavT) gadadgmuli.
qromosomuli anomaliebi
garda dazianebuli recesiuli alelisa, qromosomuli anoma-
liebi ganviTarebis seriozuli problemebis ZiriTadi mizezia.
qromosomul defeqtTa umravlesoba meozis dros warmoqmnili de-
feqtis Sedegia, roca kvercxujredi da sperma formirdeba. qromo-
somuli wyvili ise ver erTiandeba, rogorc saWiroa an qromosomebis
nawili iSleba. radgan es defeqti ufro Rrmad aris gamoxatuli
dnm-Si, vidre calkeul genTan dakavSirebuli problemebi, Cveu-
lebriv bevr fizikur da gonebriv simptoms badebs.
wyaro: Geerts, Steyaert, & Fryns, 2003 Moore & Persaud, 2003; Simpson da sxvebi,
2003 Rovet da sxvebi, 1996.
107
rogorc 3.4 cxrili gviCvenebs, daunis sindromian bavSvTa dabadebis riski dramatu-
lad izrdeba dedis asakTan erTad. ra aris amis mizezi? genetikosebs miaCniaT, rom kver-
cxujredi, romelic qalis sxeulSi misive mucladyofnis periodidan arsebobs, Tavis
droze mwifdeba. Sedegad, qromosomebi saTanadod ar calkevdeba, Tu isini Casaxvisas
meiozis process daasruleben. magram SemTxvevaTa 5-10%-Si zedmeti genetikuri niv-
Tiereba mamisgan warmoiqmneba. am mutaciis mizezebi ucnobia. zogi mecnieri amas mamis
asaks ukavSirebs, sxvebi miiCneven, rom asaki arafer SuaSia (Fisch da sxvebi, 2003; Muller da
sxvebi 1998).
sqesobrivi qromosomebis anomaliebi. daunis sindromis garda, sxva autosomuri
daavadebebi, Cveulebriv, imdenad aferxebs ganviTarebas, rom muclis moSlas iwvevs.
dabadebis SemTxvevaSic gadarCena iSviaTia. sqesobriv qromosomTa anomaliebi ki, Cveu-
lebriv, nakleb problemebs qmnis. marTlac, sqesobriv qromosomaTa daavadebebi xSirad
zrdasrulobamde arc mJRavndeba, zogierTi gadaxris dros sqesobrivi momwifebis Se-
ferxeba xdeba. Zalian xSirad problema dakavSirebulia zedmeti qromosomis (X an Y-is)
arsebobasTan an qalebSi X qromosomis naklebobasTan (ix. cxrili 3.5).
mkvlevarebma mravali mosazreba gaakritikes sqesobriv qromosomaTa darRvevebis
mqone adamianTa Sesaxeb. magaliTad, rogorc 3.5 cxrilidan Cans, sulac ar aris aucile-
beli rom XYY sindromiani mamakacebi Cveulebriv XY-ian mamakacebze agresiulebi, an-
tisocialurebi da konfliqturebi iyvnen da bavSvebis umetesoba, romelTac sqesobriv
qromosomTa darRvevebi aqvT, ar aReniSnebaT gonebrivi Seferxeba. maTi inteleqturi
problemebi metad specifikuria. verbaluri problemebi - magaliTad, kiTxvisa da sity-
vaTa maragis - xSiria sammag X sindromian gogonebSi da klinefelteris sindromian bi-
WebSi, roca orives aqvs zedmeti memkvidruli X qromosoma. sapirispirod, gogonebs ter-
neris sindromiT, romlebsac X qromosoma akliaT, sivrculi aRqmis problemebi aqvT,
magaliTad, xatvisas, marjvena-marcxenis garCevisas, mogzaurobis dros instruqciis
dacvisas, aseve axasiaTebT saxis gamomxatvelobis SesamCnevi cvlilebebi (Geschwind da
sxvebi, 2000; Lawrence da sxvebi, 2003 Simpson da sxvebi, 2003). am kvlevebidan Cans, rom Cveu-
lebrivTan SedarebiT X qromosomis metoba an nakleboba iwvevs nawilobriv inteleqtur
defeqtebs, romlis mizezi genetikosebma jer-jerobiT ar ician.
reproduqciuli arCevani
warsulSi ojaxuri genetikuri daavadebebis mqone bevri wyvili amjobinebda, ar
gaeCinaT bavSvebi, vidre gaeriskaT anomaliuri bavSvis dabadeba. dRes, genetikuri kon-
sultacia da prenataluri diagnostika exmareba maT informirebuli arCevanis gakeTe-
baSi Casaxvis an srulvadiani orsulobis Sesaxeb.
genetikuri konsultacia
genetikuri konsultacia komunikaciis procesia, romelic miznad isaxavs wyvilebis
daxmarebas, Seafason genetikuri darRvevebis mqone bavSvebis gaCenis albaToba da sa-
sikeTod warmarTon sakuTari qmedeba riskisa da ojaxis miznebis TvalsazrisiT (Shiloh,
1996). konsultacias is individebi iTxoven, visac bavSvis gaCenasTan dakavSirebiT sir-
Tuleebi hqonda – magaliTad, ganmeorebiTi muclis moSla an isini, vinc ojaxSi arse-
buli genetikuri problemebis Sesaxeb icis. genetikuri konsultacia esaWiroebaT qa-
lebs, romlebsac 35 wlamde ar hyoliaT Svili. am asakis mere qromosomuli anomaliebis
saerTo maCvenebeli swrafad izrdeba _ yovel 190 orsulze aris 1, xolo 43 wlis Semdeg
yovel 20 orsulze 1 SemTxveva (Wille da sxvebi, 2004).
Tu ojaxis istoriaSi gonebrivi Seferxebis, fizikuri defeqtis an memkvidruli daa-
vadebebis SemTxvevebi aris, genetikosi konsultanti esaubreba wyvils da xatavs ojaxis
ginealogiis suraTs, romelSic Canan daavadebuli naTesavebi. genealogia gamoiyeneba
momavali mSoblebisTvis SesaZlo anomaliuri bavSvis gaCenis albaTobis Sesafaseblad
Tavis dasawyisSi mocemul principTa gaTvaliswinebiT. bevri daavadebis SemTxvevaSi sisx-
lis testiT an genetikuri analiziT SesaZlebelia imis dadgena, aris Tu ara mSobeli mavne
genis matarebeli. matareblobis aRmoCena SesaZlebelia 75-e gverdze 3.3 cxrilSi CamoT-
vlili yvela recesiuli daavadebisaTvis, iseve, rogorc myife -X sindromisaTvis.
yvela saWiro informaciis Tavmoyris Semdeg teqnikuri konsultanti exmareba wyvils
Sesabamisi arCevanis ganxilvaSi. es gulisxmobs Casaxvas, reproduqciuli teqnologiebis
arCevas (ix. CanarTi `mecnieruli kvlevidan praqtikisken”) an bavSvis ayvanas.
meTodi aRwera
qorionis xaos procedura, romlis gamoyeneba SeiZleba maSin, roca gamokvleva orsulobis ad-
nimuSebi reul etapzea saWiro. Txeli mili vaginis gavliT SehyavT saSvilosnoSi an mu-
clis kedelSi SehyavT carieli nemsi. qorionis xaos ramdenime bolodan iReben
qsovilis mcire nawils, Tmis Reris msgavsi proeqtorebiT akvirdebian ganviTa-
rebadi organizmis garemomcvel membranas. ujredebis gamokvleva tardeba gene-
tikuri defeqtebis dasadgenad. SeiZleba Catardes Casaxvidan 10 kviris Semdeg.
Sedegebi ganisazRvreba 24 saaTSi. amniocentezTan SedarebiT muclis moSlis
odnav meti safrTxea. aseve ukavSirdeba sxeulis nawilebis damaxinjebis mcire
risks, rac proceduris adreul etapebze matulobs.
ultrabgera saSvilosnoze xdeba maRali sixSiris bgeriTi talRebis dasxiveba. misi arekvla
gamoisaxeba videoekranze suraTis saxiT, rac gviCvenebs nayofis zomas, forma-
sa da mdebareobas. SesaZleblobas iZleva dadgindes nayofis asaki, raodenoba,
SesamCnevi fizikuri defeqtebi. aseve gamoiyeneba amniocentezis, qorionis xaos
da fetoskopiis dros. 5-jer an metjer gamoyenebis SemTxvevaSi SeiZleba gaizar-
dos nayofis mcirewonianobis riski.
dedis sisxlis orsulobis meore Tvidan ganviTarebadi organizmis zogierTi ujredi dedis
analizi sisxlSi gadadis. alfa-fetoproteinis donis aweva mianiSnebs Tirkmlis daa-
vadebaze, monelebis anomaliaze an nervuli milakis defeqtebze, rogoricaa an-
encefalia ( Tavis tvinis didi nawilis arqona) da spina bifida (zurgis tvinis
amoweva xerxemlis mwkrividan). izolirebuli ujredebi SeiZleba gamokvleul
iqnes iseTi genetikuri defeqtebis dasadgenad, rogoricaa daunis sindromi.
wyaro: Kumar & O’Brien, 2004; Moore & Persaud, 2003; Newnham da sxvebi, 1993; Sermon, Van Steirteghem, & Li-
ebaers, 2004.
110
kvlevidan praqtikisaken
ultrabgeriTi ultrabgeriTi
skaneri skaneri
saSvilosnos
kedeli
qorionis xao
placenta saSvilosnos
vagina
kedeli
(a) (b)
amniocentezi da qorionis xaos sinji. dRes ori proceduris saSualebiT aTasobiT defeqti da daavadeba
SeiZleba dabadebamde aRmovaCinoT: (a) amniocentezis dros orsulobis me-14 kviris Semdeg muclis faris
gavliT saSvilosnoSi SehyavT nemsi da xdeba siTxis amoReba da fetusis ujredebis daTesva _ procesi,
romelsac 1-2 kvira sWirdeba. (b) qorionis xaos sinji SeiZleba orsulobis ufro adreul etapze, Casaxvi-
dan 9kviris mere Catardes da Sedegebi 24 saaTis ganmavlobaSi ganisazRvros. sqema gviCvenebs, rogor xdeba
qorionis xaos sinjis aReba: Txeli mili saSvilosnoSi SehyavT vaginis gavliT, nemsi ki _ muclis kedelSi.
orive procedura imarTeba ultrabgeriTi skaneriT. (K.L. Moore & T.V.N. Persaud, 2003, Before We Are Born, 6th
ed., Philadelphia: Saunders, p.87 adaptireblia gamomcemlisa da avtorTa nebarTviT).
ukve aTasobiT genia gansazRvruli, maTi CaTvliT, romelic asobiT iseT daavadebaSi
monawileobs, rogoricaa kistozuri fibrozi, diuSenis kunTuri distrofia, hanting-
tonis daavadeba, marfanis sindromi, namgala ujredis anemia da kibos mravali forma
(National Institutes of Health, 2004). Sesabamisad xdeba mkurnalobis axali meTodebis Se-
muSaveba, rogoricaa genuri Terapia _ mSobiarobis dros genetikuri anomaliebis ko-
reqtireba dnm-iT, romelsac ujredebSi funqcionuri geni miaqvs. mimdinare eqsperi-
mentebSi genuri Terapia hemofiliiTa da imunuri sistemis seriozuli disfunqciiT
daavadebul pacientebs mdgomareobas umsubuqebs, Tumca zogierTs rTuli uaryofiTi
Sedegi aReniSna (Relph, Harrington, & Pandha, 2004). sxva meTodiT, romelsac proteomiqsi
ewodeba, mecnierebi davadebuli genis proteinebis modificirebas axdenen (Banks, 2003).
genetikuri mkurnaloba jer kidev Zalze Sors aris calkeuli geniTa Tu mravali
genisa da garemos rTuli kavSirebiT ganpirobebuli defeqtebis Tavidan acilebisagan.
sabednierod, prenataluri diagnostikiT gamokvleuli fetusebis 95% janmrTelia
(Moore & Persaud, 2003). msgavsi testebis meSveobiT mraval wyvils, romelTac ojaxis is-
toriis gamo uari unda eTqvaT fexmZimobaze, janmrTeli bavSvebi hyavT.
prenetaluri ganviTareba
sperma da kvercxujredi, romelic axali individis Camosayalibeblad erTiandeba,
idealurad Seefereba reproduqciis amocanas. kvercxujredi, 1/175 duimis diametris
pawawina sfero, Znelad SesamCnevia SeuiaraRebeli TvalisTvis, rogorc winadadebis bo-
los dasmuli pawawina wertili. Tumca Tavis mikrosamyaroSi is giganti _ yvelaze didi
ujredi adamianis sxeulSi. zomis gamo is srulyofili samiznea bevrad ufro patara sul
raRac 1/500 duimiani spermisTvis.
Casaxva
daaxloebiT yovel 28 dReSi erTxel, qalis menstrualuri ciklis SuaSi, kvercxujre-
di muclis areSi Rrmad mdebare kaklisodena erT-erT sakvercxeSi gaskdeba da falopis
erT-erT milSi gadava. es grZeli, Txeli struqturebi mas cariel, rbil kedlebian saS-
vilosnoSi miiyvans (ix. sqema 3.7). sanam kvercxujredi `mogzaurobs”, axla yviTel sxe-
ulad wodebuli adgili kvercxujredze, saidanac is amovarda, im hormonebs warmoqmnis,
Berk, Child saSvilosnos
romelic Development, 7th edition ganayofierebuli kvercxujredis misaRebad amzadebs.
SigTavss
Figure 3.7
Tu orsuloba ar Sedga, yviTeli sxeuli mcirdeba, xolo saSvilosnos SigTavsi 2 kviris
BCD03F07
Semdeg menstruaciis dros gamodis.
mamakacis organizmi warmoqmnis spermis uzarmazar raodenobas _ saSualod 300 mil-
ions dReSi. momwifebis bolo etapze TiToeul spermas uCndeba kudi, romelic saSu-
alebas aZlevs grZeli manZili aRma gacuros qalis reproduqciul traqtSi, serviqsis
(saSvilosnos yeli) gavliT gaiaros falopis milebi, sadac, Cveulebriv, ganayofiereba
1 2
falopis mili
zigota blastocisti
ganayofiereba
3 embrionuli
disko
implantacia
ovulacia tropoblasti
momwifebuli saSvi- saSvilosnos
sakvercxe
kvercxujredi losno nazi kedeli
cerviqsi
vagina
1 2 3
2 3
zigota 1 blastocisti implantacia
zigota sakvercxe? meoTxe dRes Rebulobs carieli, siTxiT pirveli kviris bolos blastocis-
milSi TavdaRma savse burTis formas, mas blastocisti ti saSvilosnos kedelze mimagrebas
moZraobisas jer nela ewodeba. Sida ujredebi, romelsac embrio-
iwyebs.
iyofa, Semdeg ufro nuli disks uwodeben, axal organizmad
swrafad. gadaiqceva. gareTa ujredebi anu tropo-
blastebi damcav safars uzrunvelyofen.
niSnulebi
prenataluri ganviTareba
trimestri periodi kvirebi sigrZe da wona mTavari movlenebi
xdeba. `mogzauroba~ rTulia, bevri sperma iRupeba _ mxolod 300-500 aRwevs kvercxu-
jreds, romelSic mxolod erTi Tu axerxebs SeRwevas. sperma cocxlobs 6 dRemde da
SeuZlia daelodos kvercxujreds, romlis sicocxlis sangrZlivoba falopis milSi ga-
dasvlidan mxolod 1 dRea. Tumca ganayofiereba umetesad sqesobrivi urTierTobidan 3
dRis ganmavlobaSi xorcieldeba _ an ovulaciis dRes an wina 2 dRes (Wilcox, Weinberg,
& Baird, 1995).
ganayofierebasTan erTad prenataluri ganviTarebac iwyeba. orsulobis 38 kviris
ganmavlobaSi momxdari uamravi cvlileba, Cveulebriv, 3 periodad iyofa: (1) zigotis
periodi, (2) embrionis periodi da (3) nayofis periodi. Tu TiToeul maTganSi ganviTare-
buli movlenebis gacnoba gvsurs, es cxrili dagvexmareba.
115
es foto mZlavri mikroskopis daxmarebiT aris zigotis periodi: meSvide-mecxre dRe. ga-
gadaRebuli. spermatozoidebs dasrulebuli aqvs nayofierebuli kvercxujredi mzardi siCqariT iyofa
gadaadgileba qalis reproduqciul traqtSi da da ganayofierebidan daaxloebiT meoTxe dRes siTxiT
uzarmazari kvercxujredis, adamianis sxeulSi savse Rruian buSts, anu blastocists warmoqmnis.
yvelaze didi ujredis, zedapirSi SeRwevas iwye- fotoze naCvenebi aTasjer gazrdili blastocisti
ben. rodesac erT-erTi yvelaze warmatebuli sperma me-7 me-9 dRes saSvilosnos rbil kedelSi CaZvreba. ©
gaanayofierebs kvercxujreds, warmoqmnili zigota Lennart Nilsson, A Child is Born/Bonniers
dayofas daiwyebs. © Jack Burns/Ace/Phototake
zigotis periodi
zigotis periodi daaxloebiT 2 kvira grZeldeba, ganayofierebis Sedegad ujredebis
cicqna masa TavdaRma eSveba, gamodis falopis milidan da saSvilosnos kedels emagreba.
zigotis pirveli ujredebis dayofa xangrZlivia da prolongirebuli. is Casaxvidan
30 saaTis ganmavlobaSi jer kidev ar aris dasrulebuli. TandaTanobiT axali ujredebi
ufro Cqara emateba. meoTxe dRisaTvis 60-70 arsebuli ujredi iRebs Rruiani, siTxiT
savse buStis formas, romelsac blastocisti ewodeba(ix. sqema 3.7). Sinagani ujredebi-
sagan, e.w. embrionuli diskisagan axali organizmi Camoyalibdeba; ujredebis gareTa
mwkrivi _ tropoblasti ki _ damcav saimedo safarsa da sakvebs uzrunvelyofs.
implantacia me-7 me-9 dRes xdeba implantacia: blastocisti Rrmad CaZvreba saS-
vilosnos garsSi da qalis mkvebavi sisxliT garSemortymuli zrdas iwyebs. aqedan, tro-
poblasti (gare damcavi Sre) swrafad mravldeba, ayalibebs membranas, romelsac amnions
uwodeben. is ganviTarebad organizms amniotur siTxesTan akavSirebs. amnioni prenata-
lur garemoSi mudmivi temperaturis SenarCunebas uzrunvelyofs da qalis moZraobiT
gamowveuli dartymebisagan damcav baliSs qmnis. yviTris parkis ? gaCena dakavSirebulia
sisxlis ujredebis warmoqmnasTan manam, sanam RviZli, elenTa? da Zvlis tvini imdenad
ar momwifdeba, rom es funqcia sakuTar Tavze aiRon (Moore & Persaud, 2000).
pirveli ori kviris ganmavlobaSi movlenebi Zalze faqizi da bundovania. am periodSi
zigotebis 30% iRupeba. zogjer sperma da kvercxujredi ar aris saimedod SekavSireb-
uli, zogjer, ucnobi mizezebis gamo, ujredebis dayofa ar iwyeba. implantaciis Sewyve-
tis aseT SemTxvevaSi buneba Tavad gamoxSiravs prenatalur anomaliaTa umravlesobas
(Sadler, 2000).
1 gavixsenoT cxrili 3.6, romelSic naxsenebia, rom qorionis xaos nimuSis gamokvleva? prenataluri diag
nostikis erT-erTi meTodia? , romelic SeiZleba adreul stadiaSi, Casaxvidan me-6-8 kvirebSi Catardes.
am proceduraSi xaos boloebidan xdeba qsovilis aReba da gamokvleva genetikuri anomaliebis dasadgenad.
116
yurebi gaCndeba
Tavis tvini
aq Tvalebi
Camoyalibdeba
aq yba Camoyalibdeba
guli
qveda kiduris gamona-
zardi fexebad gada-
iqceva
zeda kidurisa ki _
xelebad
aq kunTebi da xerxemali
Camoyalibdeba
embrionad yofnis periodi: me-4 kvira. 4 embrionad yofnis periodi: me-7 kvira. embrionis
kviris embrioni 1/4 duimi sigrZisaa, miuxe- poza TandaTan swordeba. sxeulis struqturebi _
davad amisa, sxeulis bevri struqturis Tvalebi, cxviri, mklavebi, fexebi da Sinagani or-
formireba ukve dawyebulia. ganoebi ukve ikveTeba. am asakis embrioni reagirebs
© Lennart Nilsson, A Child is Born/Bonniers Sexebaze. mas moZraobac SeuZlia, Tumca 1 duimi sig-
rZisaa da 1 uncia wonisa sakmaod pawawinaa imisaTvis,
rom dedam misi moZraoba SeigrZnos.
© Lennart Nilsson, A Child is Born/Bonniers
117
meore trimestri meore trimestris Sua periodSi, me-17 _ me-20 kvirebs Soris,
axali arseba imdenad izrdeba, rom dedas SeuZlia misi moZraoba igrZnos. TeTri, yve-
lis msgavsi nivTiereba, romelsac verniqsi ewodeba, faravs kans da amniotur siTxeSi
gatarebuli xangrZlivi periodis ganmavlobaSi daskdomisagan icavs. TeTri, fumfula
RinRli, romelsac lanugo ewodeba, aseve faravs mTel sxeuls da verniqss kanze dafiq-
sirebaSi uwyobs xels.
meore trimestris bolos bevri organo sakmaod kargad aris ganviTarebuli. da Ta-
vis tvinis ganviTarebis mTavari Sedegi imiT gamoixateba, rom momwifebuli Tavis tvi-
118
fetusis periodi. 22-e kvira. es nayofi 1 fetusis periodi. 36-e kvira. nayofma saSvi-
futamde sigrZisaa da 1 funtze odnav mets iwo- losno ukve `aavso~. misi kvebis moTxovnilebis da-
nis. deda da ojaxis sxva wevrebi mucelze xelis sakmayofileblad Wiplari da placenta gaizarda.
dadebiT mis moZraobas ukve grZnoben. nayofma yuradReba miaqcieT, rom verniqsi (yveliseburi
sicocxlisunarianobis asaks miaRwia; dabadebis nivTiereba), romelic kans daskdomisagan icavs
Semdeg mas gadarCenis umniSvnelo Sansi aqvs. nayofs sxeulze ukve Camouyalibda cximovani
© Lennart Nilsson, A Child is Born/Bonniers fena, romelic dabadebis Semdeg temperatures
gaugebaria regulirebaSi daexmareba. kidev 2
kvira da is srulvadiani nayofi iqneba.
© Lennart Nilsson, A Child is Born/Bonniers
119
umjobesdeba, nayofi mRviZare mdgomareobaSi met dros atarebs. 20 kviris nayofs gu-
liscemis mixedviT Tu vimsjelebT, RviZilis periodebi ara aqvs, magram 28 kvirisTvis
mas drois daaxloebiT 11% RviZavs, rac dabadebis win 16%-mde izrdeba (DiPietro da sx-
vebi, 1996).
orsulobis dasasrulis moaxloebasTan erTad, nayofi individualurobis gamoxat-
vas iwyebs. misi maRali aqtiuroba bolo kvirebSi dabadebis pirvel TveebSi aqtiurobas
mianiSnebs _ urTierTkavSiri, romelic biWebisTvis adreul bavSvobaSic grZeldeba???
(Groome da sxvebi, 1999). nayofis aqtiuroba SeiZleba mis temperamentTanac iyos dakav-
Sirebuli. erT-erTi gamokvlevis Tanaxmad, yvela is nayofi, romelic mesame trimestrSi
ufro aqtiuri iyo, 1 wlis asakSi ufro advilad umklavdeboda frustracias, xolo 2
wlis asakSi naklebad moridebuli iyo. es bavSvebi ukeT erTobodnen saTamaSoebiT da
xalisiT amyarebdnen urTierTobas laboratoriaSi ucnob ufrosebTan (DiPietro da sx-
vebi, 2002). savaraudod janmrTeli nevrologiuri ganviTarebis indikatoria nayofis
aqtiurobis done, rac bavSvobaSi adaptaciis unars uwyobs xels. aRwerili urTierTka-
vSirebi arasrulyofilia. me-10 TavSi naxavT, rom siyvaruliT aRsavse zrunvas im bavS-
vebis temperamentis Secvlac SeuZlia, romlebsac siaxlisadmi adaptacia uZneldebaT.
bolo 3 Tvis ganmavlobaSi nayofi 5 funtze mets imatebs da 7 duimamde izrdeba. saS-
vilosnos Sevsebis Sesabamisad isini TandaTan naklebad moZraoben. amas garda, tvinis
ganviTareba, romelic organizmis moqmedebas akontrolebs, fizikuri aqtivobis Ses-
ustebas uwyobs xels (DiPietro da sxvebi, 1996). merve TveSi cximis Sre matulobs, raTa
nayofs temperaturis regulirebaSi daexmaros. nayofi dedis sisxlidan Rebulobs an-
tisxeulebs, romelic mas dabadebidan ramdenime Tvis ganmavlobaSi, sakuTari imunuri
sistemis Camoyalibebamde, avadmyofobisgan icavs. bolo kvirebSi nayofTa umravlesoba
Tavdayira mdgomareobas ikavebs, nawilobriv saSvilosnos formis Sesabamisad da imi-
tomac, rom Tavi fexebze mZimea. zrda neldeba da mSobiaroba axlovdeba.
teratogenebi
termini teratogeni niSnavs garemos nebismier agents, romelic prenatalur peri
odSi dazianebas iwvevs. is miRebulia berZnuli sityvidan teras da `ganviTarebis de-
feqts~, `simaxinje” niSnavs. mecnierebma es saxelwodeba maSin SearCis, roca pirvelad
Seiswavles mavne prenataluri gavlenebi im SemTxvevebis safuZvelze, romelTa gamoc
bavSvebi seriozulad dazaraldnen. teratogenebiT gamowveuli ziani yovelTvis mar-
tivi da sworxazovani ar aris. is Semdeg faqtorebzea damokidebuli:
zigotis dayofis
embrionuli nayofad yofnis periodi (kvirebSi)
periodi,
periodi (kvirebSi) – sruli vada
implantacia
1 2 3 4 5 6 7 8 9 16 20–36 38
Cveulebriv…ar aris cen- * gviCvenebs teratogenebis moqmedebis Cveul adgils?
mgrZnobiare tera- traluri tvini
nervuli Tvali guli Tvali kbilebi yuri
togenebis mimarT sistema
xelebi
guli fexebi yuri sasa gare genitaliebi
centraluri nervuli sistema
guli
zeda kidurebi
qveda kidurebi
yurebi
Tvalebi
kbilebi
sasa
gare genitaliebi
sqema 3.8
biologia da garemo
Cveulebriv, Znelad ikleben zedmet kilogramebs, faqtorebs, rac xels uwyobs gulis daavadebebisa
rac saSualo asakSi diabetis GganviTrebis Zalze did da hipertrofiuli diabetis ganviTarebas. maRali
risks qmnis (Hypponen, Power, & SmitH, 2003). woniT dabadebulma qalebma Tavad unda izrunon
mkerdis Semowmebaze an gaikeTon mamografia, rac
saSualebas miscemT adreul etapze aRmoaCinon da
Warbi wona dabadebisas da mkerdis kibo bevr SemTxvevaSi moirCinon kidec mkerdis kibo.
orive, dabadebisas mcire da zedemti wona arax-
prenataluri zrdis meore ukiduresoba _ elsayrel ekonomikur mdgomareobas ukavSird-
dabadebisas maRali wona _ dakvSirebulia mker- eba. sazogadoebam yuradReba unda miaqcios im so-
dis kibosTan, saSualo asakis qalTa yvelaze did cialur da ekonomikur faqtorebs, rac janmrTeli,
safrTxesTan (Andersson da sxvebi, 2001; Vatten da xangrZlivi sicocxlis prenatalur risks zrdis.
sxvebi, 2002). erTi gamokvlevis Tanaxmad, mkerdis
avTvisebiani simsivniT daavadebul 589 qals da am sqema 3.9
daavadebis armqone 1569 qals sTxoves informaciis
mowodeba maTi qaliSvilebis dabadebisdroidneli Ddabadebisas arsebuli wonisa da zrdasrulobisas
wonis, mavne zemoqmedebisa (magaliTad, sigaretis mkerdis kibos ganviTarebis risks Soris kavSiri.
moweva orsulobis dros) da ojaxis wevrTa avad- mkerdis avTvisebiani kiboTi daavadebuli 589 dedisa da
myofobis istoriis (rogoricaa naTesavebi mkerdis 1569 qalis, visac mkerdis kibo ar hqonda, gamokvlevisas
kibos diagnoziT) Sesaxeb. qalebma zrdasrulobis sxva mravali prenataluri da postprenataluri riskebis
periodSi TavianTi janmrTelobis Sesaxeb informa- gakontrolebis Semdeg aRmoCnda, rom dabadebisas didi
ciac miawodes.sxva risk-faqtorebis kvlevis Sede- wona mkerdis kibos winapiroba iyo. mkerdis kibos riski
gad dadginda, rom dabadebisas didi wona, gansa- gansakuTrebiT maRali iyo qalebisTvis, visi dabadebis
kuTrebiT 8.7 funtze meti, mkerdis kibos winapiroba wona 3.955 gramze, anu 8.7 funtze meti iyo (adaptirebulia
iyo (ix. sqema 3.9) (Michels da sxvebi, 1996). mecnierebma Michels da sxvebi, 1996).
daadgines, rom mizezi Warbwoniani momavali dedaa,
romlis organizmic zedmet estrogenebs (qaluri
hormoni)gamoimuSavebs. estrogenebi xels uwyoben
nayofis did zomas da mkerdis qsovilis struqtu-
mkerdis kibos riskis kavSiri dabadebis
1.0
droindel wonasTan > 3,955g (8.7funti)
0.8
prevencia 0.7
0.6
prenatalur ganviTarebasa da mogvianebiT ga- 0.5
Cenil daavadebebs Soris kavSiri daavadebebis
0.4
gardauvalobas ar gulisxmobs. prenataluri gare-
0.3
mos faqtorebi zegavlenas axdens zrdasrulis
janmrTelobaze, magram janmrTelobis dasacavad 0.2
da iwvevs placentis anomaliur zrdas, rac Tavis mxriv amcirebs sakvebis miwodebas da
nayofi wonaSi cudad imatebs. nikotini aseve amaRlebs mxuTavi gazis koncentracias
rogorc dedis, aseve nayofis sisxlSi. laboratoriuli cxovelebis nayofebSi mxuTavi
gazi gamodevnis Jangbads sisxlis wiTeli ujredebidan, azianebs centralur nervul
sistemas da anelebs sxeulis zrdas (Friedman, 1996). msgavsi movlenebi SeiZleba adamia
nebsac daemuqros.
aramweveli orsuli qalebis erTi mesamedi an naxevari `pasiuri mwevelia~, radgan
maTi qmrebi, naTesavebi an TanamSromlebi ewevian. pasiuri moweva aseve dakavSirebulia
dabadebisas mcire wonasTan, axalSobilTa daRupvasTan da SemdgomSi yuradRebisa da
126
2002 Goodlett & Horn, 2001). meore, organizmi alkoholis asaTviseblad didi raodenobiT
Jangbads moixmars. roca orsuli qali bevrs svams, nayofis ujredebis ganviTarebisTvis
saWiro Jangbadi alkoholis gadamuSavebas xmardeba.
amerikeli da kanadeli qalebis daaxloebiT 25%-ma ganacxada, rom orsulobis gark
veuli periodis ganmavlobaSi svamda. iseve, rogorc heroinisa da kokainis SemTxvevaSi,
alkoholis intensiuri moxmarebiT maRali maCvenebliT siRaribiT daTrgunuli qalebi
gamoirCevian (Health Canada, 2003b; U.S. Department of Health and Human Services, 2003a). zog
adgilobriv amerikul da kanadur rezervaciebSi nas-s maCvenebeli sakmaod maRali _
10%-ia (Silverman da sxvebi, 2003). saubedurod, dafexmZimebis SemTxvevaSi gansjis uun-
aroba asset qalebs xels uSlis gaiazron alkoholis safrTxe. amdenad, tragikuli cik-
li, savaraudod, Semdeg TaobebSic meordeba.
alkoholis ra raodenobaa usafrTxo orsulobis dros? mcire raodenobac ki, dReSi
erTi Wiqa nas damaxasiaTebel niSnebTan asocirdeba, aseve Tavis Semcirebul zomasTan
da sxeulis damuxruWebul zrdasTan bavSvobasa da Semdgom mozardobaSi (Astley da sx-
vebi, 1992; Day da sxvebi, 2002). Tu gaviTvaliswinebT genetikur da garemo faqtoreb-
sac, romlebmac zogierTi nayofi SeiZleba ufro mgrZnobiare gaxados teradogenebis
mimarT, alkoholis mcire raodenobac ki ar aRmoCndeba usafrTxo, aqedan gamomdinare,
orsulma mTlianad unda Tqvas uari sasmelze.
baqteriuli
sifilisi + + + ?
tuberkulozi + ? + +
parazituli
malaria + 0 0 +
toqsoplazmozi + + + +
+ = dadgenil gavlenas, 0 = SemTxvevaTa 0%-s, ? = SesaZlo efeqts, romelic zustad ar aris dadgenili
wyaro: Behrman, Kliegman, & Jenson, 2000; O’Rahilly & Muller, 2001; Jones, Lopez, & Wilson, 2003.
129
magaliTad samxreT afrikaSi, orsul qalTa 1/4 aiv-dadebiTia (United Nations, 2004a). SemTx- © Dr. M. A. Ansary/
vevaTa 20-30%-Si isini sasikvdilo viruss ganviTarebad organizms gadascemen. Photo Researchers, lnc
loebiT 40% daavadebas nayofs gadascems. Tuki inficireba pirvel trimestrSi moxdeba,
SesaZloa Tvalis an Tavis tvinis dazianeba gamoiwvios. mogvianebiT infeqcia mxedvelo-
bis dazianebas da kognituri unaris msubuq Seferxebas iwvevs. axalSobilTa 80%-Si,
romelTac dazianebis aSkara niSnebi ar aR 55gv gareSe, mogvianebiT swavlis an vizual-
uri aRqmis dabali unari uviTardeba (Jones, Lopez, & Wilson, 2003). momavali dedebi im Sem-
TxvevaSi aicileben Tavidan toqsoplazmozs, Tu: darwmundebian, rom xorci, romelsac
miirTmeven, kargad aris momzadebuli da maTi sayvareli katebi Semowmebuli arian daa-
vadebaze, xolo maT eqskrementebze zrunvas ojaxis sxva wevrebs gadaabareben.
yuradRebas uTmobs imigrantebis, First Nations anu mkvidr kanadelelebs da inuitebs anu
CrdiloeT kanadaSi mcxovrebT. mTlianobaSi, is momavali dedebis 10%-s moicavs.
60 sqema 3.10
rom Svilis materialur uzrunvelyofas SeZleben. qals, romelic bavSvis gaCenas agvi-
anebs, asakTan erTad unayofobis, muclis moSlisa da bavSvis qromosomuli defeqtebiT
dabadebis riski ezrdeba. arsebobs Tu ara asakovani qalebisaTvis orsulobisaTvis dam-
axasiaTebeli sxva garTulebebic? wlebis ganmavlobaSi mecnierebi am kiTxvas dadebiTad
pasuxobdnen, Tumca 30-40 wlis janmrTel qalebs prenataluri da mSobiarobis garTule-
bebis daaxloebiT igive maCveneblebi aqvT, rac 20 wlisebs (Bianco da sxvebi, 1996; Dildy da
sxvebi, 1996; Prysak, Lorenz, & Kisly, 1995). 3.10 sqemis Tanaxmad, garTulebaTa maCveneblebi
mkveTrad izrdeba 50-55 wlis asakSi (roca menopauzisa da reproduqciul organoTa asa-
kis gamo cota qals Tu SeuZlia bunebrivi gziT dafexmZimeba) (Salihu da sxvebi, 2003).
SeiZleba Tu ara fizikurma moumwifeblobam Tineijer dedebs prenataluri prob-
lemebi Seuqmnas? gamokvlevis Sedegebis mixedviT, Tineijeris sxeulis zoma da siZliere
fexmZimobas uzrunvelyofs. marTlac, rogorc me-5 TavSi vnaxavT, buneba gvarwmunebs,
rom Tu gogona dafexmZimebas SeZlebs, bavSvis tarebisa da gaCenisTvisac mzad aris. Ti-
neijerTa Svilebi mravalnairi problemebiT ibadebian, magram ara dedis asakis gamo.
orsul TineijerTa umetesoba mcireSemosavliani ojaxidanaa, sadac stresi, arasrul-
fasovani kveba da janmrTelobis problemebi bunebrivia. aseve bevrs eSinia, rom samedi-
cino daxmarebis miRebas ver moaxerxebs an, magaliTad, SeerTebul StatebSi amgvar dax-
marebas ver miiRebs janmrTelobis dazRvevis arqonis gamo (U.S Department of Health and
Human Services, 2003c).
prenatalur garemoze saubris dasasruls gadavxedoT CanarTs `imis gamoyeneba, rac
viciT”, romelic gvaswavlis, risi gakeTeba SeiZleba da risi ara janmrTeli orsulo-
bisTvis. sajaro ganaTlebam am sasicocxlo mniSvnelobis sakiTxebze SeiZleba mniS-
vnelovnad Seamciros prenataluri janmrTelobis problemebi da maTi Soreuli Sede-
gebi. kanadis bavSvTa jandacvis instituti, saxelmwifo arakomerciuli organizacia,
miznad isaxavs kanadel bavSvTa da mozardTa janmrTelobis gaumjobesebas, sazoga-
doebaSi informaciis gavrcelebas prenataluri janmrTelobis xelSewyobis Sesaxeb. is
usafrTxo, daculi mSobiarobis mxardamWeria, rac am Tavis momdevno sakiTxia.
codnis gamoyeneba
risi gakeTeba SeiZleba da risi ara janmrTeli orsulobisTvis
SeiZleba ar SeiZleba
dafexmZimebamde aucileblad CaitareT vaqcinacia iseTi in- eqimis konsultaciis gareSe ar miiRoT ara-
feqciuri daavadebebis (magaliTad, wiTuras) winaaRmdeg, rom- nairi wamali.
lebic saxifaToa embrionisa da nayofisaTvis. vaqcinaciaTa
umetesoba saxifaToa orsulobis periodSi.
orsulobaze eWvisTanave mimarTeT eqims da gaagrZeleT ar mowioT. Tu mweveli xarT, moweva SeamcireT
regularuli samedicino Semowmeba mTeli orsulobis an, umjobesia, saerTod daaneboT Tavi. moeri-
ganmavlobaSi. deT mwevelebs. Tu ojaxis sxva wevrebi ewevian,
sTxoveT, gareT mowion.
ikvebeT balansirebuli dietiTa da vitamin-mineralebis nazaviT ar miiRoT alkoholi im droidan, roca dafex-
eqimis miTiTebis mixedviT, orives didi mniSvneloba aqvs orsu- mZimebas gadawyvetT.
lobisTvis. TandaTanobiT moimateT 25-dan 30 funtamde. Tavi aarideT iseT saqmes, romelic safrTxes
Seuqmnis ganviTarebad organisms (magaliTad,
SeinarCuneT kargi fizikuri mdgomareoba varjiSiT, Tu SesaZle- sadac radiacia an dabinZurebaa).
bloba gaqvT, gaxdiT orsulTa savarjiSo jgufis wevri. ar miirTvaT xorci kargad damuSavebis gareSe,
Tavi aarideT emociur stress. Tu martoxela momavali deda Tavi daanebeT katebis movlas da maT adgil-
xarT, ipoveT naTesavi an megobari, visganac emociuri mxar samyofels ? toqsoplazmozis riskis Tavidan
daWera geqnebaT. asacileblad.
mSobiaroba
gasakviri ar aris, rom bavSvis gaCenas xSirad Sromas uwodeben (labor – inglisurad ga-
Cenasac aRniSnavs da Sromasac. mTarg. SeniSvna.). es umZimesi fizikuri datvirTvaa, risi
atanac ki qals ZaluZs. am procesis Tanmxlebi rTuli hormonuli cvla dedas da nayofs
Soris, bunebrivad iyofa sam stadiad (ix. sqema 3.11):
1. serviqsis (saSvilosnos yelis) gafarToeba da gaqroba. es tkivilebis yvelaze xan-
grZlivi stadiaa, pirveli mSobiarobisas 12-14, xolo momdevno mSobiarobebisas
4-6 saaTi grZeldeba. saSvilosnos SekumSva sul ufro xSirdeba, rac iwvevs ser-
viqsis anu saSvilosnos gaxsnas. igi farTovdeba da ise Txeldeba, rom aRarc ki
SeiniSneba, Tavisufldeba saSvilosnodan vaginisken gamosasvleli arxi.
2. bavSvis dabadeba. rodesac serviqsi mTlianad ixsneba, bavSvi mzad aris dabadebisT-
vis. es meore stadia gacilebiT moklea pirvelTan SedarebiT, grZeldeba 50 wuTs
pirveli mSobiarobisas da 20 wuTs Semdegi mSobiarobebisas. saSvilosnos Zlieri
135
stadia I
(a) serviqsis gafarToeba da gaqroba. saSvilos- (b) gamosvla. bavSvis gamosvla iwyeba
nos kumSvebi iwvevs saSvilosnos yelis gafarToe- maSin, rodesac kumSvebis sixSire da si-
bas da gaqrobas. Zliere aRwevs piks da saSvilosnos yeli
mTlianad ixsneba.
stadia II
(g) kumSvebi. yovel SekumSvasTan erTad deda ubiZgebs (d) bavSvis dabadeba. meore stadiis
bavSvs, bavSvi qveviT, gamosasvleli arxisken miiwevs da bolos jer mxrebi gamoCndeba, xolo
misi Tavi Cndeba. Semdeg swrafadve mTeli sxeuli.
stadia III
kumSvebi grZeldeba, magram deda aseve grZnobs bunebriv biZgebs, kumSvebs da mu-
clis kunTebis dartymisebur miwolas. Yyovel WinTvasTan erTad is awveba bavSvs,
romelic TandaTan iweva qvemoT da gareT gamodis.
3. placentis gamosvla. wvaleba dasasrulisken midis ramdenime damamTavrebeli
WinTviTa da biZgiT, rac aiZulebs placentas moscildes saSvilosnos kedels da
daaxloebiT 10-15 wuTSi gareT gamovides.
damaxasiaTebeli qula
niSnebi 1
0 1 2
gulis cema guliscema ar aris wuTSi 100 dartymaze wuTSi 100-140 dartyma
naklebi
sunTqvis siZliere sunTqva ar aris 60 araregularuli, Zlieri sunTqva
wamis ganmavlobaSi zedapiruli sunTqva da tirili
nervuli refleqsebi reaqcia ar aris susti refleqsuri Zlieri refleqsuri
(cemineba, xvela, reaqcia reaqcia
mimika)
kunTebis tonusi mTlianad modun- xelebisa da fexebis sus- xelebis da fexebis Zl-
ebuli ti moZraoba ieri moZraoba
feri lurji sxeuli, xe- vardisferi sxeuli, tani, xelebi da fexebi
lebi, fexebi lurji xelebi da fexebi mTlianad vardisferia
meorebiT 5 wuTis Semdeg. apgaris 7 da meti qula bavSvis karg fizikur mdgomareobas
miuTiTebs. Tu qula 4-dan 6-mdea, maSin bavSvs sunTqvis an sxva sasicocxlo funqciebis
stimulirebisTvis specialuri daxmareba esaWiroeba. Tu qula 3 an 3-ze naklebia, axal-
Sobili seriozuli safrTxis winaSea da gadaudebeli samedicino daxmarebaa aucilebe-
li. apgaris 2 quliT zogjer im axalSobilTa mdgomareoba fasdeba, romelTac Tavidan
uWirT Segueba, magram ramdenime wuTSi ukeT xdebian (Apgar, 1953).
bunebrivi anu
momzadebuli
mSobiaroba
bunebrivi anu momzadebuli mSo
biaroba iseT teqnikas moicavs, rom
lis mizania tkivilis Semcireba da
samedicino Careva, raTa bavSvis dabadeba SeZlebisdagvarad sasiamovno movlenad iqces.
miuxedavad bunebrivi mSobiarobis mravali programis arsebobisa, umetesoba inglisSi
granTli dik-ridisa (Grantly Dick-Read, 1959) da safrangeTSi ferdinand lamazes (Fer-
dinand Lamaze, 1958) SemuSavebul meTodebs eyrdnoba. am eqimebma daadgines, rom kul-
turuli ganviTaxreba qals mSobiarobis SiSs aswavlis. aRelvebuli, SeSinebuli qali
mSobiarobis dros kunTebs Wimavs da zogjer sust tkivils Zlieri kumSvis TanxlebiT
intensiur tkivilad gadaaqcevs.
tipuri bunebrivi mSobiarobis programaSi momavali deda da kompanioni (partniori,
naTesavi, megobari) 3 moqmedebaSi monawileoben:
1. klasebi. momavali deda da kompanioni iseT mecadineobebs eswrebian, sadac mSo-
biarobis anatomiasa da fiziologias swavloben. dabadebis procesis codna dedis
SiSs amcirebs;
2. relaqsacia da sunTqvis teqnika. momavali dedebi swavloben relaqsacias da
sunTqviT varjiSebs, romelTa mizania saSvilosnos kumSvis tkivilebis gamklave-
ba;
3. mSobiarobis instruqtori. kompanioni swavlobs, rogor unda daexmaros dedas
mSobiarobis dros relaqsaciasa da sunTqvaSi, gaukeTos zurgis masaJi, dauWiros
sxeuli, gaamxnevos da moeferos.
bis unari SenarCunebuli aqvs, mas mSobiarobis meore stadiaSi gaWinTva SeuZlia.
miuxedavad imisa, rom tkivilgamayuCeblebi qalebs samSobiaro tkivilebs umsub-
uqebs, eqimebs ki saWiro samedicino daxmarebis saSualebas aZlevs, isini problemebsac
qmnis. magaliTad, epiduraluri analgezia asustebs saSvilosnos kumSvebs, ris gamoc
mSobiaroba xangrZlivdeba. wamlebi swrafad gadadis placentaSi, axalSobilze moq-
medebs da Sedegad apgaris dabal qulebs viRebT. Cvilebi pasiurebi ibadebian, dabadebi-
sas daxmareba sWirdebaT, sustad woven da gaRviZebisas Wirveuloben (Caton da sxvebi,
2002; Eltzschig, Lieberman, & Camann, 2003; Eemory, Schlackman, & Fiano, 1996).
axdens Tu ara samSobiaro medikamentebis didi dozebi xangrZliv zemoqmedebas
fizikur da gonebriv ganviTarebaze? zogi mkvlevari am kiTxvas dadebiT pasuxs iZleva
(Brackbill, McManus, & Woodward, 1985), Tumca maT mowinaaRmdegeebic hyavT (Golub, 1996).
zogierTi gamokvlevis mixedviT medikamentebis gamoyeneba SeiZleba sxva grZelvadiani
Sedegebis mqone risk-faqtorebTan iyos dakaSirebuli. am Sedegebis daxarisxebas ufro
Rrma kvleva sWirdeba. manamde ki, axalSobilis Seguebis unarze am wamlebis uaryofiTi
zemoqmedeba maTi gamoyenebis SezRudvis tandencias aZlierebs.
samSobiaro garTulebebi
rogorc vnaxeT, zogierT bavSvs _ kerZod ki mas, visi dedac janmrTelobiT ver dai-
kvexnis, srulyofili samedicino meTvalyureoba ara aqvs an orsulobis problemebi aR-
eniSneba _ dabadebisas gansakuTrebiT emuqreba sirTuleebi. Jangbadis ukmarisoba, or-
sulobis Sewyveta aborti? da mcire wona bavSvis ganviTarebisaTvis seriozuli riskia,
rasac ukve mravaljer SevexeT. ganvixiloT TiToeuli garTulebis zemoqmedeba Semdgom
ganviTarebaze.
Jangbadis ukmarisoba
zogierTi axalSobili dabadebisas ganicdis anoqsias anu Jangbadis arasakmaris mi-
wodebas. zogjer amis mizezi ramdenime wuTis ganmavlobaSi sunTqvis dawyebis Seferxe-
baa. janmrTel axalSobils mozrdilze didxans SeuZlia naklebi JangbadiT an mis gareSe
gaZleba; isini nivTierebaTa cvlis Semcirebis xarjze zogaven Jangbadis SezRudul ra-
odenobas. Tumca, arsebobs Tavis tvinis dazianebis safrTxe, Tu regularuli sunTqvis
aRdgena 10 wuTze met xans dayovndeba (Parer, 1998).
141
zogjer anoqsia mSobiarobis drosac xdeba. xSirad mizezi Wiplaris Semoxvevaa, rac
xSirad bavSvis mjdomare pozicia ganapirobebs _ am dros bavSvis gamosvla sajdomiT
an fexebiT (1 SemTxveva 25 mSobiarobaze) xdeba. am safrTxis gamo mjdomare poziciaSi
myofi Cvilebi xSirad sakeisro (qirurgiuli) kveTiT evlinebian qveyanas. Jangbadis na-
klebobis mizezi placentis naadrevi mowyveta SeiZleba iyos (daaxloebiT 1 SemTxveva
250 mSobiarobaze), roca sikvdilis safrTxis gamo aucilebelia saswrafo mSobiaroba
(Matsuda, Maeda, & Kouno, 2003). placentis mowyvetis mizezebi kargad ar aris dadgenili,
magram savaraudoa, rom placentis anomaliuri ganviTareba SeiZleba teratogenebTan
iyos dakavSirebuli, risi erT-erTi mizezi sigaretis wevaa.
anoqsiis gamomwvevi kidev erTi mizezia rezus (RH) SeuTavseblobis faqtori dedisa
da bavSvis sisxlis tipebs Soris. rodesac deda rezus-uaryofiTia (rezus proteinebis
arqona), xolo mama rezus-dadebiTi (aqvs rezus proteinebi), bavSvma SeiZleba memkvidre-
obiT mamis rezus-dadebiTi sisxli miiRos. rezus-dadebiTi sisxlis mcire raodenobac
rom gadavides placentidan rezus-uaryofiTi dedis sisxlSi, is daiwyebs antisxeulebis
warmoqmnas ucxo proteinis winaaRmdeg. nayofis sistemaSi moxvedris SemTxvevaSi mox-
deba wiTeli sisxlis ujredebis destabilizacia, rac Seamcirebs Jangbadis miwodebas.
amas SeiZleba gonebrivi ganviTarebis Seferxeba, muclis moSla, gulis defeqtebi da
Cvilis sikvdilic ki mohyves. dedisaTvis antisxeulebis Seqmnas dro sWirdeba, amdenad,
pirveli SvilisaTvis safrTxis riski dabalia. yoveli Semdegi orsulobisas safrTxe
matulobs. sabednierod, rezus SeuTavsebloba SeiZleba bevr SemTxvevaSi Tavidan iqnes
acilebuli. yoveli rezus-dadebiTi bavSvis dabadebis Semdeg uaryofiTi rezusis dedam
unda miiRos antisxeulebis Seqmnis sawinaaRmdego vaqcina.
rogor aisaxeba mSobiarobis dros gadatanili anoqsia ukve mozrdil bavSvze? gamokv-
leva gviCvenebs, rac ufro maRalia Jangbadis nakleboba, miT metad zaraldeba bavSvis
SemecnebiTi da metyvelebis unari adreul da Sua bavSvobaSi (Hopkins-Golightly, Raz, &
Sander, 2003; Porter-Stevens, Raz, & Sander, 1999), susti anoqsia ki xSirad kvalsac ar tovebs
(Raz, Shah & Sander, 1996).
ganviTarebis seriozuli Seferxeba SeiZleba eqstremaluri anoqsiiT iyos gamowveu-
li. SesaZloa bavSvis sunTqvis sistemam prenataluri dazianeba ganicada an misi filt-
vebi sunTqvisTvis jer mzad ar iyo. magaliTad, 6 kviriT an ufro adre dabadebul bavS-
vebs, Cveulebriv, respiraciuli dazianebis sindromi (romelic gamWvirvale membranis
daavadebis saxeliTac aris cnobili) aqvT. maTi pawawina filtvebi imdenad sustad aris
ganviTarebuli, rom haeris parkuWebi ziandeba, rac sunTqvis seriozul garTulebebs
iwvevs. dReisaTvis meqanikuri respiratori bevr bavSvs unarCunebs sicocxles. miuxeda-
vad amisa, zogi bavSvi mainc ganicdis Jangbadis naklebobiT gamowveul tvinis daziane-
bas, zogjr ki maTi nazi filtvebi mkurnalobisas ziandeba. mogvianebiT vnaxavT, rom
respiratoruli dazianebis sindromi erT-erTia im uamrav risks Soris, romlis winaSec
naadrevad dabadebuli bavSvi SeiZleba aRmoCndes.
60
arsebiTi darRvevebi
50 araarsebiTi
bavSvebTa procenti
darRvevebi
darRvevebis mqone
40 sqema 3.13
bavSvebs dReSi ramdenjerme ukeTebdnen masaJs, isini wonaSi ufro swrafad imatebdnen,
pirveli wlis bolos am stimuls moklebul bavSvebTan SedarebiT ukeTesi gonebrivi da
motoruli ganviTareba axasiaTebdaT (Field, 2001; Field, Hernandez-Reif, & Freedman, 2004).
ganviTarebad qveynebSi, sadac hospitalizacia yovelTvis ar aris SesaZlebeli, miRe-
bulia kani kanze anu `kengurusebri zrunva”, romlis drosac dRenakluli bavSvi dedis
mkerds aris mikruli da mas uyurebs. es teqnika dasavleTis qveynebSi gamoiyeneba, ro-
gorc intensiuri hospitaluri zrunvis damateba. aseTi movla aumjobesebs Cvilis sxe-
ulis JangbadiT momaragebas, temperaturis regulirebas, sunTqvas, kvebas da misi zr-
dis gadarCenis Sanss (Anderson, 1999; Feldman & Fidelman, 2003). amasTanave, rac ufro meti
grZnobiT da sinaziT asruleben mSoblebi `kengurusebr zrunvas”, miT ukeT viTardebian
Cvilebi (Feldman da sxvebi, 2002, 2003).
Tumca, zogierTi Zalian patara da avadmyofi CvilisaTvis zedmeti stimuli saWiro
ar aris. xmauri, kaSkaSa sinaTle da mudmivi samedicino monitoringi, rac intensiur mov-
las ukavSirdeba, SeiZleba damTrgunveli iyos da nerviuloba da gadaRla gamoiwvios.
rodesac eqimebi da eqTnebi bavSvis individualuri saWiroebis mixedviT yuradRebiT
arCeven stimulirebis formasa da moculobas, EEG da FMRI maCveneblebi tvinis ufro
organizebul funqcionirebas 2 kviris asakSi adastureben. aseT bavSvebs motoruli,
SemecnebiTi da emociuri simwifis maRali Sefasebebi aqvT 9 Tvis asakSi Semowmebis dro-
sac (Als da sxvebi, 2004).
6 sqema 3.14
socialuri sakiTxebi
kiTxva `ramdeni?”
qcevis Semswavleli genetikosebi adamianis kompleq-
sur TaviseburebebSi memkvidreobis rolis dasadgenad 2
meTods iyeneben – memkvidreobis Sefasebas da SeTanxmebis
xarisxs. modiT, dawvrilebiT gavecnoT am kvlevaTa Sede-
gad miRebul informacias da mis SezRudulobas. ?
70%
60%
kiTxva `rogor?”
dReisaTvis mkvlevarTa umetesoba ganviTarebas memkvidreobisa da garemos erTo-
blivi dinamikuri zemoqmedebis Sedegad ganixilavs. rogor moqmedebs buneba da aRzrda
erToblivad? ramdenime koncefcia naTels hfens am SekiTxvas.
sqema 3.17
50
biologia da garemo
larsis da svenis biologiur dedebs SizofreniiT kontrolo jgufis janmrTeli biologiuri da SeZe-
daavadebis gamo iseTi problemebi hqondaT cxovre- nilmSoblebiani bavSvebiviT?. piriqiT, naSvileb
baSi, rom orivem gaaSvila Tavisi patara vaJiSvili. bavSvebs (larsis msgavsad), romelTa biologiur da
larss bedma ar gauRima da iseT mSoblebTan moxvda, SeZenil mSoblebs darRvevebi hqondaT, mdgomareoba
romlebsac biologiuri dedis msgavsad fsiqikuri gauuaresdaT. maT fsiqikuri aSlilobis ganviTa-
aSliloba hqondaT. misi ojaxuri cxovreba qaosuri rebis meti albaToba hqondaT, vidre sakontrolo
iyo, mSoblebi ki, sastikebi da uyuradReboebi iyvnen. jgufis bavSvebs, romelTa biologiuri mSoblebi
svenis axali mSoblebi ki, fsiqiurad janmrTelebi janmrTelebi iyvnen, magram araxelsayrel ojaxur
iyvnen da mas siyvaruliT, moTminebiT da gagebiT garemoSi izrdebodnen.
zrdidnen. msgavsi Sedegebi gamovlinda amerikaSi, brita-
larsi genetika-garemos gavrcelebuli ko- neTsa da SvedeTSi antisocialuri qcevis ganvi-
relaciis magaliTia: aReniSneba Sizofreniisken TarebaSi genetikisa da garemos gavlenis Sesaxeb
midrekileba da mSoblebTan Seuguebloba. aqvs Tu Catarebul kvlevebSi. naSvilebi bavSvebi, romelTa
ara mas svenTan (romlis ojaxuri cxovreba geno- biologiuri dedebic danaSaulisTvis cixeSi isxd-
tip-garemos araxelsayrel kavSirs ar aZlierebs) nen, mozardobis asakSi mkafiod gamoxatul antiso-
SedarebiT fsiqikuri aSlilobis ganviTarebis cialur qcevas mxolod im SemTxvevebSi avlendnen,
meti albaToba? fineTSi SvilobilTa guldasmiT roca araxelsayrel ojaxur pirobebSi izrdebodnen
gamokvlevis safuZvelze dadginda, rom Sizofre- da mSoblebTan an SeZenil da-ZmasTan mougvarebeli
niiT daaavadebuli dedebis daaxloebiT 200 gaS- problemebi hqondaT. jansaRi ojaxebis naSvilebi
vilebul bavSvs mozrdilobaSi igive tendenciebi danaSaulisadmi midrekili bavSvebi ar gansxvavde-
gamouvlinda (Tienari da sxvebi, 1994, 2003). maT, vinc bodnen im naSvilebi bavSvebisgan, romelTac msgavsi
svenis msgavsad jansaR ojaxur garemoSi gaizarda, genetikuri foni ar hqondaT (Bohman, 1996; Yates,
umniSvnelo fsiqiuri darRvevebi aReniSnaT ? – sa- Cadoret, & Troughton, 1999).
lacias mTlianad genetikaze daqvemdebarebulad miiCnevs (Harris, 1998; Rowe, 1994). isini
miiCneven, rom genetikuri agebuleba aiZulebs bavSvebs miiRon, gamoixmon an moiZion is
gamocdileba, romelic maTi Tandayolili tendenciebis aqtualizacias moaxdens.
sxvebi amtkiceben, rom memkvidreoba bavSvebis gamocdilebasa da ganviTarebas sworx-
azovani – iqneb calmxrivi? ar marTavs. magaliTad, mSoblebs an sxva ufrosebs genetika-
garemos araxelsayreli korelaciis gancalkeveba SeuZliaT. isini xSirad bavSvebs ga-
dascemen pozitiur gamocdilebas, rac saxes ucvlis memkvidreobis gamoxatulebas da
karg Sedegebsac aRweven (ix. CanarTi `biologia da garemo”). sxva kvlevebi adasturebs,
rom Svilebis mimarT mSoblebis gansxvavebuli damokidebulebis mizezi aramxolod
bavSvebis memkvidreoba, aramed nawilobriv ojaxuri cxovrebis aspeqtebic aris. mrav-
alricxovan, martoxela mSoblis, mcireSemosavlian da im ojaxebSi, romlebsac ar umar-
Tlebs, mSoblebs Svilebis mimarT gansxvavebuli damokidebuleba aqvT (Jenkins, Rasbash,
& O’Connor, 2003). SesaZloa, daTrgunuli mSoblebi mxolod erT Svilze axdenen Sez-
Ruduli energiis koncentrirebas.
kvlevis Sedegebi cxadyofs, rom memkvidreobasa da garemos Soris kavSiri calmxrivi
rodia _ genebidan garemosken da Semdeg qcevisken. is am da wina TavebSi ganxilul gav-
lenaTa sxva sistemebis msgavsad ormxrivia: genebi zemoqmedebs bavSvis qcevasa da gamoc-
dilebaze, xolo gamocdileba da qceva ki _ genTa eqspresiaze (Gottlieb, 2000, 2003). stimu
lirebis orive forma _ Sinagani (ujredis citoplazmis SigniT mimdinare aqtivoba,
155
sqema 3.19
a do
dreobasa da garemos yvela dones Soris mimdinare i
og
ormxrivi gacvlis Sedegad xdeba. genebi zemoq- naT
esa z
medebs qcevasa da gamocdilebaze. gamocdileba veb sa
a
da qceva aseve zemoqmedebs genTa eqspresiaze.
i garemo skol
or
mxrivi qceva
gavle
nebi
genTa eqspresia
individualuri ganviTareba
Sejameba
genetikuri safuZvlebi msgavsi struqturebi, Cvens memkvidrul
ra aris geni da rogor gadaecema erTi SesaZleblobebs Seicavs. maT gaswvriv,
Taobidan meores? mTel sigrZeze ganlagebulia genebi _
dnm-is segmentebi, romlebic ujredis
yoveli adamianis fenotipi anu uSua-
citoplazmaSi instruqcias gzavnian pro-
lod is Taviseburebebi, romlebze dak-
teinebis mdidari asortimentis Sesaqm-
virvebac SesaZlebelia, genotipisa da
nelad. es procesi, individebad gvaqcevs
garemos erToblivi produqtia. qromo
da gavlenas axdens Cvens ganviTarebasa da
somebi, ujredis birTvSi arsebuliKkibis
xasiaTze.
157
gametebi anu sasqeso ujredebi uj pebi jer kidev ucnobia. genetikosebma
redTa dayofis Sedegad warmoiqmneba. es unda gamoikvlion memkvidreobis gavlena
meiozis saxeliT aris cnobili. gadakveTa am Tvisebebze.
da qromosomTa damoukidebeli asorti- daaxasiaTeT ZiriTadi qromosomuli
menti uzrunvelyofs yoveli mSoblisagan anomaliebi da axseniT, rogor Cndebian
TiToeuli gametis mier genTa unikaluri isini.
kompleqtis miRebas. spermisa da kvercxu-
jredis SeerTebis Semdeg miRebuli zigo qromosomul anomaliaTa umetesoba
ta rTul adamianur arsebamde ganviTare- meozisis dros daSvebuli Secdomebis
bas ujredTa gaormagebis Sedegad iwyebs, Sedegia. metad gavrcelebuli qromoso-
rasac mitozi ewodeba. muli daavadebaa daunis sindromi, rac
fizikur defeqtebsa da gonebriv Sefer-
fraternaluri anu zigoturi tyu xebas iwvevs. sqesobriv qromosomTa dar
pebi dedis sakvercxidan ori kvercxu- Rvevebi – XYY, sammagi X, klainfelteri
jredis warmoqmnisa da ganayofierebis da turneris sindromebi autosomur de-
SemTxvevaSi ibadebian. identuri anu mo feqtebTan SedarebiT naklebad saSiSia.
nozigoturi tyupebi ibadebian maSin,
roca zigota orad iyofa ujredTa gaor- reproduqciuli arCevani
magebis adreul stadiaSi. Tu gamanayofi- ra gamokvlevebi daexmareba momaval
erebel spermas X qromosoma aqvs, gogona mSoblebs janmrTeli Svilebis gaCenaSi?
daibadeba, xolo Tu Y qromosomas Seicavs
_ vaJi. genetikuri konsultacia exmare-
ba wyvilebs, Tavi daicvan genetikuri
daaxasiaTeT genetikuri memkvidreo- daavadebebis mqone bavSvis dabadebis
bis sxvadasxva paternebi riskisgan da gaakeTon Sesaferisi rep
dominant-recesiuli memkvidreoba roduqciuli arCevani. prenataluri
da kodominansi aris memkvidreobis pa- diagnostikis meTodebi SesaZlo anoma-
terni, rac Tavs iCens erTeuli genebis liebis adre dadgenis saSualebas iZleva.
mier gakontrolebul damaxasiaTebel miuxedavad imisa, rom reproduqtiuli
niSnebSi. dominant-recesiuli memkvi- teqnologiebi – rogoricaa ganayofi-
dreobis dros heterozigoturi indi- erebis donori, vitroganayofiereba, sur-
vidi erTi recesiuli aleliT recesiuli ogati deda da menopauzisSemdgom peri-
niSnis matarebelia. mamodificirebeli odSi daxmarebis Sedegad bavSvis gaCena
genebi aZliereben an amcireben sxva genTa – bevrs mSoblobis bednierebas aziarebs,
efeqts. amave dros seriozul iuridiul da eTi-
kur problemebs qmnis.
rodesac recesiuli daavadebebi X-da
kavSirebulia (X qromosomis mier gadai-
taneba), mamakacebs daavadebis meti alba-
Toba aqvT. genetikuri imprintingi aris
memkvidreobis paterni, romelSic erTi
mSoblis aleli gaaqtiurebulia misi Se
© ELLEN SENISI/THE EMAGE WORKS
madgenlobis miuxedavad.