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dihibriduli Sejvareba

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3.2 qromosomaTa struqturuli mutaciebi<br />

qromosomuli mutaciebi, anu aberaciebi, qromosomaTa struqturis mniSvnelovan<br />

cvlilebebs gulisxmobs. es cvlilebebi zogjer imdenad didia, rom maTi danaxva sinaTlis<br />

mikroskopiTac ki SeiZleba. qromosomuli aberaciebi xSirad fenotipze ufro<br />

met gavlenas axdens, vidre genuri mutaciebi. qromosomaTa struqturuli<br />

mutaciebia: delecia, duplikacia, inversia da translokacia.<br />

delecia qromosomis ubnis dakargvaa. es ubani SeiZleba qromosomis<br />

Sua nawilSi iyos, SeiZleba boloSi. am dros qromosoma genebis garkveul<br />

raodenobas kargavs da mokldeba (sur. 1).<br />

Tu deleciis Sedegad dakarguli nawili didia, maSin igi organizmis<br />

sicocxlisunarianobaze moqmedebs da SeiZleba letaluri efeqti<br />

hqondes an seriozul paTologiebSi gamoixatos. yvelaze gavrcelebulia<br />

me-5 qromosomis nawilis dakargviT gamowveuli anomalia, romelic ka-<br />

sur. 1. delecia tis knavilis sindromis saxeliT aris cnobili. es daavadeba pirvelad<br />

1963 wels frangma pediatrma Jerom leJenma<br />

aRwera. yoveli 50000-dan erTi axalSobili<br />

am anomaliiT ibadeba.<br />

• daakvirdiT suraTze (sur. 2) qromosomebis<br />

homologiur wyvilebs. ra gansxvavebaa<br />

me-5 wyvilis qromosomebs Soris?<br />

katis knavilis sindromiT dabadebuli<br />

bavSvebisTvis damaxasiaTebelia sxeulis<br />

sur. 2. katis<br />

mcire wona (dabade-<br />

knavilis sindromi<br />

bisas 2,5 kg), patara,<br />

mTvaris formis Tavi, Tvalebis iribi Wrili da saxis araproporciuli<br />

nakvTebi (sur. 2). xSirad aseT bavSvebs Tandayolili gulis<br />

manki da Sinagani organoebis ganuviTarebloba aReniSnebaT.<br />

xSiria aseve mxedvelobis, smenisa da metyvelebis problemebi.<br />

aseT bavSvebs Zalian viwro xorxi aqvT, amitom maTi tirili katis<br />

knavils waagavs. aRwerilia SemTxveva, rogor eZebda aseTi<br />

tirilis gamo mTel samSobiaroSi eqimi katas. asakis matebasTan<br />

erTad xorxi farTovdeba, amitom bavSvis tirili katis knavilis<br />

msgavsi aRar aris, samagierod ufro ikveTeba daavadebis<br />

sxva niSnebi (sur. 3): patara da mogrZo formis Tavi, Tvalebis sur. 3. asakis matebasTan<br />

erTad daavadebis sxva<br />

iribi Wrili, sielme da agreTve nervuli sistemis funqciuri<br />

niSnebi ikveTeba<br />

97

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