Genetika

Front 1

Ra aris genomi?(ganmarteba)

Back 1

გენომი არის დნმ-ის სრული თანმიმდევრობა,რომელიც შეიცავს მთლაინ გენეტიკურ ინფორმაციას გამეტის,ინდივიდის,პოპულაციის ან სახეობის შესახებ.

Front 2

Ra aris geni

Back 2

Geni aris memkvidreobis erteuli;molekuluri ganmartebit geni aris qromosomuli dnmis tanmimdevroba romelic sachiroa funqciuri produqtis shesaqmnelad

Front 3

ramden gens sheicavs adamianis genimi?

Back 3

20000-50000mde

Front 4

Ra aris kariotipi?

Back 4

Saxeobistbis damaxadiatebeli qromosomuli kompleqti

Front 5

Genebis romel or dziritad tips vagiarebt?

Back 5

I.romlebic warmoqmnian cilas;

II.romelta produqticaa funqciuri RNM-i;(aramakodirebeli genebi)

Front 6

Ramdenia cilis makodirebeli genebis raodenoba?

Back 6

20000-dan-25000mde. Aq 20000

Front 7

Ramdeni rnmis geni aqvs adamians?

Back 7

20000-25000

Front 8

Dnmis shemadgeneli komponentebia?

Back 8

1)dezoqsiriboza

2)axotovani fidze

3)pospaturi jgufi

Front 9

Mezobeli dezoqsiribozas molekulebi ertmanets ukavshirdebian?

Back 9

5’-3’ fosfodieteruli bmebit

Front 10

Adeninsa da timins shoris warmoiqmneba?

Back 10

2 wyalbaduri bma

Front 11

Citozinsa da guanins shoris warmoiqmneba?

Back 11

3 wyalbaduri bma

Front 12

Rogoria dnmis jachvebi?

Back 12

Marjvnivmxvevi da antiparaleluri

Front 13

Ramden nukleotodur wyvils sheicavs birtvis genomi?

Back 13

6 miliardze mets

Front 14

Ra saxit arsebobs genomi ujredshi?

Back 14

Qromatinis saxit

Front 15

Ra saxit arsebobs genomi ujredshi?

Back 15

Qromatinis saxit

Front 16

Qromatini ari...

Back 16

Dnmis molekula dakavshirebuli cilebtan

Front 17

Ra saxit arsebobs genomi ujredshi?

Back 17

Qromatinis saxit

Front 18

Qromatini ari...

Back 18

Dnmis molekula dakavshirebuli cilebtan

Front 19

Dnmi ukavshirdeba?

Back 19

Histonur(fudze) da arahistonur(mjave)cilebtan

Front 20

Romeli histonuri cilebi qmnian oqtamers?

Back 20

•H2A

•H2B

•H3

•H4

Front 21

Ramdeni fudzeta wyvilia daxveuli titoeul oqtamerze?

Back 21

140 fudzeta wyvili

Front 22

Ramden beuns aketebs oqtamerze 140 fudzeta wyvili?

Back 22

Titqmis 2 bruns

Front 23

Titoeul dnm-histonur gulis kompleqss shoris aris?

Back 23

Speiseruli ubani(dauxveveli),romelic 20-dan-60-mde fudzeta wyvils sheicavs

Front 24

Ra ewodeba ertad dnm-isa da histonebis kompleqss ertad?

Back 24

Nukleosoma

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Ra ewodeba ertad dnm-isa da histonebis kompleqss ertad?

Back 25

Nukleosoma

Front 26

Sadaa dakavshirebuli H1 histoni?

Back 26

Is dnms ukavshirdeba titoeuli nukleosomis kideze internukleosomur speiserul ubanashi

Front 27

Jamshi internuklsomur speiserul ubans *+nukleosomis ubani=?

Back 27

200 fudzeta wyvili

Front 28

Ra funqcia aqvt damatebit histonebis tipebs?

Back 28

Mat sheudzlian chaenacvlon H3 da H2A histonebs da dnms am ubanshi specioiuri tvisebebi mianivhon.

Front 29

Ras gansazgvraven histonebi?

Back 29

Histonebis tipebi da modifikacowbi sheidzleba gansxvavdebodes sxvadasxva tipis ujredshi,varaudoben rom es ganapirobebs dnm-is ise daxvevas da mis xelmosawvdomobas sxvadasxva regulatoruli molekulisyvis,rac gansazgvravs genis expresias da genomis axva finqcciebs.

Front 30

Ra tavisebureba axasiatebs histonebian dekondensirebul dnms?

Back 30

Is dekondensirebul mdgomareobashic ki metad kondensirebulia vidre histonebisagan tavisufali an histonebis gareshe dnms romelic kondensirebulia.

Front 31

Qromatinis organizaciis dziritadi erteulia?

Back 31

Solenoidi

Front 32

Ierarqia?

Back 32

1.Nukleosoma

2.solenoidi

3.maryujebi

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Maryujebi emagreba?

Back 33

Arahistonuri cilebis gerdzs

Front 34

Maryuji aris?

Back 34

Dnm-is replikaciis an genis transkripciis funqciuri erteuli.

Front 35

Mitoqondriuli qromosoma?

Back 35

Rgoluri formisaa

Front 36

Solenoidi yalibdeba?

Back 36

Nukleosomuri dzafebis kompaqtizaciit

Front 37

Autosomur recesiuli daavadebebia?

Back 37

1)kisturi fibrozi

2)memkvidruli hemoqromatozi

3)pigmwnturi qseroderma(axlonatesauris magaliti)

Front 38

Autosomur recesiuli daavadebebia?

Back 38

1)kisturi fibrozi

2)memkvidruli hemoqromatozi

3)pigmwnturi qseroderma(axlonatesauris magaliti)

Front 39

Autosomur dominanturi daavadebebia?

Back 39

1)hantingtoni

2)aqondroplqzia(FGFR3)

3)ojaxuri testoqsikozi(LCGR)

4)ojaxuri hiperqolesterolemia

5)trikmlis hiperkistozi

6)miotonuri distropia

7•gapobilis xelis mtevnis an terfis manki(arasruli penetrantoba)

8•pirveli tipis neiropibromatozi-(variabeluri expresiuloba)

9•qondriskacoba-letaluria-FGFR3

10)smenis progresuli dakargva-araletaluri

Front 40

X shechiduli dominanturi daavadebebia?

Back 40

1)hipopospaturi raqiti

2•retis sindromi-MECP2 letaluria kacebshi qalebshi-nervologiuri dargvevebi

3X shechiduli epilepsia -marto qalebshi-protokadherini 19-mamakacebshi chanacvldeba da ar vlindeba

Front 41

Autosomur recesiuli daavadebebia?

Back 41

1)kisturi fibrozi

2)memkvidruli hemoqromatozi

3)pigmwnturi qseroderma(axlonatesauris magaliti)

Front 42

Autosomur dominanturi daavadebebia?

Back 42

1)hantingtoni

2)aqondroplqzia(FGFR3)

3)ojaxuri testoqsikozi(LCGR)

4)ojaxuri hiperqolesterolemia

5)trikmlis hiperkistozi

6)miotonuri distropia

7•gapobilis xelis mtevnis an terfis manki(arasruli penetrantoba)

8•pirveli tipis neiropibromatozi-(variabeluri expresiuloba)

9•qondriskacoba-letaluria-FGFR3

10)smenis progresuli dakargva-araletaluri

Front 43

X shechiduli dominanturi daavadebebia?

Back 43

1)hipopospaturi raqiti

2•retis sindromi-MECP2 letaluria kacebshi qalebshi-nervologiuri dargvevebi

3X shechiduli epilepsia -marto qalebshi-protokadherini 19-mamakacebshi chanacvldeba da ar vlindeba

Front 44

Fsevdoautosomuri memkvidreobit xasiatdeba?

Back 44

Disqondrosteozi -x dan y ze gadadis SHOX geni mutirdeba mokle mxrebshi

Front 45

X shechdiuli dargvevebi da shenguebloba?

Back 45

1)diushenis kuntovani miodistropia -0

2)hemofilia-0.7

Front 46

Nf1 s axasiatebs?

Back 46

1)rdziani yavisferi laqebi

2)mcire zomis ketiltvisebiani simsivneebi

3)tvalis ferad garsze lishis kvandzebi

4)neirofibromebi-ojaxis sxva wevrebshi

Front 47

Segmwnturi mozaicizmi?

Back 47

Nerifibromatozi 1

Sheidzleba mahobeli daavadebuli ar iyos da shvilshi mozaicizzmit gamovlindea da ukve am mozaikuri nf1 it daavadebuls sheidzleba aramozaikuri NF1 iani shvili gauchndes

Front 48

Mozaicizmis saxeebi?

Back 48

Segnenturi-gaahnia ra etapze moxda mutacia

Germinaciuli-mshobels ar aqvs mutacia tumca gwrmniciul ujredebshi iyos gamovlenili (mozaicizmis saxit)

Front 49

Genomiri impritingi?

Back 49

Mshoblis sqesingansazgvravs am shemtxvevashi expresias da bavshvis sqess aranairi mnishvneloba ar aqvs

Front 50

Genomuri improtingis magalitia?

Back 50

PGL-memkvidruli paragangliomebi

Front 51

Genomuri improtingis magalitia?

Back 51

PGL-memkvidruli paragangliomebi-vnsshi simsivneebi vitardeba

Front 52

PGL gadaecema da tavs ichens?

Back 52

Gadaecema mamisgan tavs ichens orive sqesshi

Anu bichma vtqvat miigo dedisgan masshi ar gamovlinda tumca mis shvilshi gamovlinda radgan is mamrobiti sqesisaa shvilshi ro gamovlindea ambis albatoba 50% ia

Front 53

Dinamikuri mutaciis dros?

Back 53

Veluri tipis alelebis raodenoba cdeba normalur farglebs

Front 54

Poliglutaminuri daavadebis deos

Back 54

CAG tripletis hiperexpansiaa saxeze

Front 55

Poliglutaminuri daavadebis deos

Back 55

CAG tripletis hiperexpansiaa saxeze

Front 56

Dinamikuri mutaciit gamowveuli daavadebaa?

Back 56

Hantingtonis daavadeba

Front 57

Poliglutaminuri daavadebis deos

Back 57

CAG tripletis hiperexpansiaa saxeze

Front 58

Dinamikuri mutaciit gamowveuli daavadebaa?

Back 58

Hantingtonis daavadeba

Front 59

Hantigtonis daavadebis dros saxezea

Back 59

1)Zoliani sxeulis da qerqis degeneracia

2)Shua xnis asakidan vlindeba axasiatebs qorea 3)distonia ,pirovnuli tvisebebis cvlileba

4)Homozigot avadmyofebshi ufro swrafad progresirebs

5)Anticipacia-mamisgan gadacemis dros (anu taobidan taobasho gadacemis dros ufro adreul asakshi vlindeba)

6)CAG hiperexpresia xdeba

Normashi-9-35 unda iyos

Daavadebulebshi 40 s agemateba

Roca ganmeorebadoba 40-50ia daavadeba xandazmulobit vlindeba

7)taobidan taibashi ganmeorebadobebi imatebs da asakic axalgazrdavdeba -anticipacia amit aixsneba

8)premutaciebi vlindeba roca ganmeorebata ricxi axlosaa zeda zgvartan da sheidzleba limits gadascdes (29-55)

Front 60

Fragiluri X sindromi

Back 60

1)autizmis speqtris dargvevaa

2)fragilur ubans warmoqdgens Xq27.3-am ubanshi qromatini ar ganicdis kondensacias mitozis dros

3)x shechidulia

4)penetrantoba qalebshi 50-60% ia

5)am dros FMR1 genis 5’ aratranslirebad ubanshi CGG masiurad expansirdeba

6)normashi 55 mdea CGG

7)daavadebia deoa sruli fragiluri X sindromia dros 200 ze metia ganmeorebadoba

8)am dros FMR1 geni ar eqspresirebs da ar warmoqmnis shesabamis cilas risi mizezicaa expansirebuli ganmeorebadobebis mier citozinis metilireba FMR1 genis promotorshi,rac CpG kundzulebshi genis gachumebas iwvevs

9)60-200 dros shualeduri forma yalibdeba

10)aq gadacema qalidan xdeba -anticipacia

11)axasiatebs premutacia

12)premutaciia deos gamsxvavebit HD sgan mozrdilta adakshi mamakacebshi gazrdilia ataqsiis riski qalebshi ki xshiria sakverczis funqciis moshla

Front 61

Ra tvsisebebit xasiatdeba mitoqondria?

Back 61

1)dediseuli memkvidreoba

2)replikaciuri segregacia-shemtxveviti gadanawileba mit.dnmis axlad sintezirebul mitpqondriebshi,mitoqondriebic shemtxvevidad gadanawildebian shvileul ujrwdebshi

3)homoplazmia-heteroplazmia-ujredshi eogori mitoqondriebia magazea damokidebuli

Front 62

Mitoqondriuli daavadebaa?

Back 62

Leberis tandayolili mxedvelobis neiropatia

Front 63

Botlis yelis efecti?

Back 63

Ganvitarebad oocitshi mit-dnmis-molekulebis raodenobis jer shemcireba da shemdeg amplificireba -momwofebul oocitshi mati ricxvi mkvetrad izrdeba

Front 64

Heterogenurobis dziritadi tipebia:

Back 64

1)aleluri-erti genis sxvadasxva mutacua iwvevs ertidaigive fenotips

2)lokusuri-sxvadasxva genis mutaciebi iwvevs erti daigive fenotips

3)klinikuri anu fenotipuri-erti genis sxvadasxva tipis mutacua iwvevs gansxvavebul genotips

Front 65

Aleluri heterogenurobis magalitia?

Back 65

1)kisturi fibrozi-CFTR-genis 1000-ze meti sxvadasxva mitacia xandaxan klinikurad ganurchevel daavadebas iwveven aseve sheidzleba sxvadasxva simszimit gamovlindes

2)pigmwnturi retiniti -fotoreceptorebis degeneracii midis

Front 66

Aleluri heterogenurobis magalitia?

Back 66

1)kisturi fibrozi-CFTR-genis 1000-ze meti sxvadasxva mitacia xandaxan klinikurad ganurchevel daavadebas iwveven aseve sheidzleba sxvadasxva simszimit gamovlindes

2)pigmwnturi retiniti -fotoreceptorebis degeneracii midis

Front 67

Kisturi fibrozis simptomebia:

Back 67

1)pankreasis ukmarisoba;

2)filtvis daavadeba

3)teslgamomtani sadinris ganuvitarebloba ;

Sxva mutaciis deos shwidzleba iyos filtvis daavadeba da ara pankreasis modhla da kidev sxvebs mxolod sateslezw sheidzleba hqondet problema

Front 68

Pigmwnturi retiniti:

Back 68

1)Mimdinareobs fotoreceptorta degeneraciit;

2)ORP1 genis zogierti mutacia romelic jangbadit regulirebad fotoreceptoris cilas kodirebs iwvevs daavadebis autosomur recesiul formas

Xolo igive genis sxva mutaciebi autosomur dominantur formas

Front 69

Lokusuri heterogenurobis magalitia:

Back 69

1)pigmwnturi retiniti arsebobs autosomuri da x shechiduli formebi,es yovelive sheidzleba gamowveuli iyos 54 autosomuri genis da 2 x shwchiduli genis mutaciit anu jamshi 56 sxvadasxva genis mutaciit;

Front 70

Klinikuri heterogenuroba?

Back 70

LMNA genis sxvadasxva mutacia iwvevs minimum 5 fenotipurad gansxvavebul daavadebas :

1)emeri-dreifusis kuntovani distropia

2)memkvidruli kardiomiopatiis ert-erti forma

3)sharko-maritusis periferiuli neiropatia

4)lipodistropias-normaluri czimovani qsovilis ganuvitareblobas

5)naadrevi dabwreba-hatchinson-golfrisis progeria

Front 71

Ojaxuri agregacia=

Back 71

λr=daavadebis sixshire natesavebshi/daavadebis sixshire populaciashi

Front 72

Ojaxur agregacias magalitad adgili aqvs?

Back 72

MS-gafantuli sklerozis dros

Front 73

Dadebitia ojaxuri korelacia tu?

Back 73

Magalitad pacients momatebuli aqvs qolesterolis done da proporciulad igi momatebuli aqvt mis natesavebsac.

Front 74

Uaryofiti korelaciis dros?

Back 74

Rac ufro magalia pacientis machvenebeli,mit ufro dabalia natesavebis machvenebeli.

Front 75

Memkvidreobitoba aginishneba?

Back 75

H^2 it roca is 0 ia mashin genetika arafer gavlenas ar axdens roca is 1 fenotipi mtlianad genotipzea damokidebuli

Front 76

Gapobili tuchisa da sasis(CL(P))

Back 76

1)warmoishveba embrionuli periodis 35-e kviraze;

2)am dros xdeba zwda tuchisa da magari sasis qsovilebis sheerteba;

3)multipaqtoruli daavadebaa;

4)CL(P)individta 60-80% mamakacia

5)heterogenuria da aertianebs iset formebs romeltatvisac gapobili tuchi da sasa ert-erti gamovlinebaa-sindromuli CL(P)

Xolo roca sxva defeqttan ar aqvs mas kavshiro cnobilia eogorc arasindromuli CLP

6)sindromuli sheidzleba gadaeces erti gwnis dargvevit an qromosomuli dargvevit(13 qromosomis trisomia da 4p-deleciis sindromia dros)an teratogonuei paqtoris zemoqmedwbit(witurit gamowveuli embriopatia)

7)arasindromuli sheidzleba gadaeces rogorc monogenuri dargveva magram ufro xshirad is sporadulia;

8)bavshvebshi CLP mit metia rac meti natesavi hyavs mas CLP is mqone

Front 77

Ra aris konkordantoba?

Back 77

Rodesac tyupebs erti da igive daavadeba aavt amboben rom isinidaavadebis minart konkordantulebi arian

Front 78

Konkordantuli daavadebaa?

Back 78

Namglisebrujredovani anemia

Front 79

Konkordantuli daavadebaa?

Back 79

Namglisebrujredovani anemia

Front 80

Arasruli konkordantobis magalitoa?

Back 80

Shaqriani diabeti tipi 1 40%

Front 81

Falkoneris formula?

Back 81

H^2 = 2(rmz - rdz) tu variabeloba gansazgvrulia garemo faqtorebit rmz da r dz 0 is toli iqneba sxvaoba da h2 ic 0 iqneba -anu genetika arafwrshuashia

Xolo tu r is mnishvneloba Mz tyupebshi iqneba 1 roca dzshi r iqneba 0.5 am dros h2 iqneba 1 anu mtlianad genwtikaze damokidebuli

r korelaciis koeficientia

Front 82

Ertmanwtis davilebiki tyupebi magalito?

Back 82

BMI -is mimart korelacia MZ tyupebsho ufro magali iyo vidre DZ tyupebshi anu sxeulis masis indexsze genetikas hqonia gavlena

Front 83

MZ tyupebs ar aqvt...

Back 83

Zustad ertnairi genotipi an genebis expresia;es damokidebulia im genetikur da epigenetikur cvlilebebze,romelsac adgili aavs zigotis orad gaxlechis shwmdeg;

Front 84

Gulis tandayolili mankebi:

Back 84

1)aris heterogenuri jgufi;

2)gamowveulia monogenuri an qromosomuli meqanizmebit;

3)aseve tetratogenebis zemoqmedwbit: wituras infeqciit an dedis shaqriani diabetit ;

4)multifaqtorulia;

5)CHD-is xut dziritad jgufs gamoiyofa:

I.sisxlis mimoqcevis dargveva;

II.ujredebis migraciis dargveva;

III.ujredebis kvdomis dargveva;

IV.ujredgare matrixis anomaliebi;

V.zrdis defeqtebi;

6)CHD-is 50% s sheadgens sisxlis mimoqcevis dargvevebi :

•gulis marcxena naxevris hipoplaziuri sindromi;

•aortis stenozi;

•winagultashua dzgidis defeqtebi;

6)falos tetradis shemtxvevashi 25 % s sheidzleba hqondes qromosomuli delecia 22q11ubanshi -velokardiocepaluri sindromis dros gvxvdeba;

Front 85

Shizofrenia:

Back 85

1)gamovlindeba da mjgavndeba akviatebuli ideebis;emociuri dargvevis;socialiri qcevisa da halucinaciebis saxit;

2)konkordantoba MZ shi 40-60% ia; DZ shi 10-16%;

3)22q11 interaticiuli deleciis mqone individebshi vxvdebit;mat 50% s ubitardeba shizofrenia;

4)agmochnda rom shizofreniit daavadebuli pacientebis mcire nawils agmoachnda patara zomis intersticiuli deleciebi :1q22.11 15q11.2 da 15q13.3

Front 86

Bipolaruli daavadeba:

Back 86

1)guneba-ganwyobis dargveva ;

2)Mz shi konkordantoba62%ia;

3)DZshi 8%;

4)axasiatebs variabeluri expresiuloba:erti ojaxis zogierto wevri klasikur(bipolarul)nishnebs avlens sxva ki unipolarils;

Front 87

CAD-koronaruli arteriuli daavadeba

Back 87

1)mamakacebshi riski ufro magalia;

2)recidivis riski mdedrobiti sqesis probabdis mamrobiti sqesis pirveli rigis natesavebshi 7jer metia,vidre mamakaci probandis pirveli rigos qal natesavebshi ;

3)tu probandi qalia da tan axalgazrdaa CAD is riski 11,4 jer agemateba populaciis risks;

4)CAD is damatebiti risk faqtorebia:

I.hipertenzia;

II.simsuqne;

III.shaqriani diabeti;esenia genetikuri;

Aseve garemo faqtorebi:

I.kveba

II.fizikuri aqtivoba;

III.tambaqos moxmareba;

Front 88

Kisturi fibrozi:

Back 88

1)gaachnia modifikatori genebi-isini simdzimes gamsazgvraven daavadebis;

2)mag FEV1-is gauareseba (1 wamshinamosuntqili haeri)filtvis funqciis gauaresebis sazomia;

3)modifikaciaze pasuxismgebeli ori genia:MBL2 geni da TGFB1 geni;

MBL2 kodirebs shraris cila- manoza bmul leqtins;

TGFB1 kodirebs-citokin-matransformirebel zrdis faqtors;patogenebs anadgurebs-zeda manoza bmuli leqtini;

Shesabamisad tu MBL2 geni daqveitda filtvis daavadebis gauareseba iqneba saxeze;

TGFB1 lokusis alelebi iwvevs TGFB s charb produqcias -rac cudi peognozis machvenebelia ragan ,TGFB xels uwyobs antebiti procesos shemdeg ganvitarebuli filtvis qsovilis shexorcebada da fibrozs;

Front 89

Digenuri memkvidreoba

Back 89

Pigmwnturi retiniti:

1)daavadebulebi ormagi heterozigotulebi arian or sxvadasxva lokusshi mdebare mutanturi alelebis mimart;

2)erti lokusi kodirebs cila perfirins-fotoreceptorebis membranuli cila;

3)meore magavs fotoreceptorul cila -ROM1-s;

4)am mutaciebidam mxolod erti mutaciis mixedvit ar avaddebiam pigmenturi retinitit;magram ertdroulad orive mutaciis mixedvit heterozigot individebs agnishnuli daavadeba ubitardebat;

Front 90

Aseve multigenuri modeli:

Back 90

BAREDIT-beidlis sindromisas :

1)mas axasiatebs simsuqne,

2)gonebrivi unarshezgudulobis sxvadasxva done;

3)tirkmlis degeneracia;

4)polidaqtilia;

5)shard-sasqeso sistemis mankebi;

6)miuxedavad imisa rom is chveulebriv autosomur recesiuli memkvidreobit xasiatdeba...

7)cnobilia 14 sxvadasxva geni romelta mutaciebicniwvevs am sindrome;

8)aseve gamovlenilia digenuri memkvidreobis tipi:daavadeba vitardeba mxolod mashin roca individi am 14 lokusidan homozigoturia ert-ertis mutaciis mixedvit da heterozigoturia danecheni lokusebis mixedvit(

Front 91

Idiopatiuri cerebruli venuri trombozi:

Back 91

•ori genetikuei da erto garemo faqtori iwvevs siaxlis shededebis sistemis moshlas-hiperkoagulacias:

I.shededebis V faqtoris makodirebeli genis missena varianti;

II.cvlileba shededebis faqtoris protrombinis makodirebeli genis 3’ aratranslirebad ubanshi;

III.oralurinkontracepciis mogeba;

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Idiopatiuri cerebruli venuri trombozi:

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•ori genetikuei da erto garemo faqtori iwvevs siaxlis shededebis sistemis moshlas-hiperkoagulacias:

I.shededebis V faqtoris makodirebeli genis missena varianti;-506-e poziciashi arg chanacvldeba Glu-it;es cvlileba shedegs axdens gaxlechvis ubanze romelic sachiroa V faqtoris degradaciistbis shedegad cila ufro mdgradia da misi aqtivoba gazedilia;

II.cvlileba shededebis faqtoris protrombinis makodirebeli genis 3’ aratranslirebad ubanshi;3’ 20210-e poziciashi G chanacvldwba A it -amitom protrombinis i-rnmi imatebs translacia izedeba da cilis donis mateba;

III.oralurinkontracepciis mogeba;V faqtoris mimart heterozigoturoba da kontracepcia umnishvnelod zedis risks magram protrombinis magali done da oraluri kontracepcia 30-150jer;

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Grma venebis trombozi DVT:

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Risks zrdis:

1)travma;

2)qirurgiuli chareva;

3)avtvisebiani simsivne;

4)umodzraoba xangrdzlivo;

5)oralurinkontracepcia;

6)xandazmuloba;

7)V faqtoris alelo DVT s risks 7jer zedis heterozigotebshi;

8)kontracepcia heterozigotebshi 30 jer zedis risks;

9)protrombinis chanacvleba 20210 G is adeninit 2-3 jer zedis risks ;xolo ormag heterozigotebshi20-jer;

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Hirshpringis daavadeba:

HSCR

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Aginishneba:

1)shisasakvandzo ujredebis seuli an nawilobrivo ararseboba maxvili nawlavis kintovan da lorwovan shreebs shoris;

2)tu maxvil nawlavs gangliebi ar aqvs mas perestaltika ar shwidzlia rac iqvevs gauvalobas;

3)eveopel axalshobila1/5000

Azielebshi metia;

4)70% HSCR vlindwba izolirwbuli defeqtis saxit;

12 % shi qromosomuli sindromis ert-erti simptomi;

Danarchenshi tandayolili anomaliis ert-erti nishani;

5)HSCR-S 80% aqvs es forma-am dros mxolod mokle segmenti-swori nawlavis donezea ert ganglias moklebuli;

Sxva shemtxvevashi gangliebs moklebuli ubani grezlia xandaxan moicavs mtel maxvil nawlavs xandaxan damatebit tedzos nawlavsac(HSCR-L);

6)HSCR-L gamowveulia ReT genis funqciis dakargvis mutaciit-romelic tyrozonkinazas receptor Ret-s kodirebs;

7)HSCR-S ufro xshiria kompleqsurin dargvevebisnnishnebi aqvs ;

I.Lambda S magalia magram Mz aravlenen srul konkordantobas

8)yuradgebas ipyrobs RET gentan axlos mdebare 2 aramakodirebeli ubani :

I.nawlavuri genebis enhanseri-SOX10 transkripciis patqortan aqvs dakavshirebisnubani;

II.mwore ufro shros mdebareobs RET isgan;

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Diabeti tipi1:

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1)2/1000ze;

2)pankreasis B-eta ujredebi autoimunuri destuqcia xdeba ;

3)konkordantoba MZ 40% ia;

Dz-5%;

4)T1D-is ganmsazgvrel dziritad faqtors warmoadgens qsovilshetavsebis mtavari kompleqsis-MHC lokusi-VI qromosomaze;

5)MHC genebs 2 klasad yofen:I da II klasebad romlebic sheesabameba HLA genebs-leikocitur antigenebs;

HLA I:HLA-A,HLA-B,HLA-C

HLA II:HLA-DR,HLA-DQ,HLA-DP

Isini gadamwyvet rolsntamashoben ujrwdia imunuri pasuxis iniciaciasho;

Limpocitebi ver cnoben antigens tu HLA ar qmnis antigenntan kompleqss

6)DRB1is kavshiri ganoirobebulia DQB1 da DQA1 -II klasis alelebit da qmnian haplotips; am sam lokusshi mdebare haplotipis garkveuli kombinacia T1D -is ganviatrebis risks 11 jer zrdis;xolo alelta gamsvavebuli konbinacia amcorebs T1 D s 50% it;

Saqme isaa rom damcav meqanizmsho DQB1 is produqyi DQB1*0303 57-e poziciashi sheicavs ASPartatis majvas ,xolo tu sxva aminomjavebi gveqneboda (ala,val,ser)piriqit winaswarganwyobas gazrdida.

7)martlac T1D it daavadebul individta 90% homozigoturoa DQB1 alelis mixwdvit da es aleli ar kodirebs ASP-s 57-e poziciashi;

8)savaraudos 57-e poziciis ASP gansazgvravs antigentan dakavshorebis unaria cvlilebas ,ganapirobebs ra autoiunur pasuzs,romelic pankreass azianebs.

9)tumca MHC is sxva lokusebix mnishvnelovania diabwtiatvis radgan T1D it daavadebul zogiert pacients am poziciashi ASP aqvs;

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Alchaimeri-AD:

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1)1-2%;

2)shemwcnnebiti da mexsierebiti gunqciebis dakagva ,qerqis neironebisnkvdomis gamo;

3)risk paqtorebia:asaki,sqesi,ojaxuri anamnezi;

4)tipuria mdedrobitistvis;

5)damaxadiatebelia cilovani agregatebis (Beta amiloiduri folaqebi da neirofibriluri kvandzebi);am folaqebis nishania Abeta peptidis arseboba,romelic normaluri neironuli cilis amiloiduri cilis winamoebedis danawevrebis shedegad;

6)mtavari lokusi aris APOE-romelic kodirebs apolipoprotein-E-s;Apolipoprotein E shwdis ADs amiloiduri folaqebis shemdagenlobashi da qimiuri bmebit ukavshirdeba A-beta peptida;

7)Apoes geni lokalizebulia me19 qromosomashi aqvs sami aleli:Epsilon2,epsilon3,epsilon4;

8)epsilon4 alelis shemcveli genotipi sul mcire 2-3 jer ufro xshirad vlindeba daavadebulebshi jamrtelebtan shedarebit;

9)AD-s ganvitareba xshiria Ę4/Ę4homozigotebshi>Ę4/Ę3hwterozigotebshi>sxva;

10)Ę4 aleli winaswarganwyobis alelia romelic zrdis ADs ganvitarebis risks adreul asakshi;

11)garemo mnishvnelovania zogi Ę3/Ę4 da Ę4/Ę4 gvian asakmde cocxlobs aranairi nishnit xolo visac tavis travma da Ę4 aqvs imas ufro gamoexateba;