Daun sindromlu diaqnoz \u0259n d\u0259h\u015f\u0259tli diaqnozlardan biridir. Bu sindrom 1866 \u2013 c\u0131 ild\u0259n m\u0259lumdur. Bel\u0259 ki, ingilis h\u0259kimi Lanqdan Daun xarakter x\u00fcsusiyy\u0259ti olan bu x\u0259st\u0259liyi bir q\u0131z u\u015fa\u011f\u0131nda m\u00fc\u015fahid\u0259 el\u0259mi\u015f, v\u0259 onu \u201cmonqolizm\u201d adland\u0131rm\u0131\u015fd\u0131r. Sonralar bu x\u0259st\u0259lik onun \u015f\u0259r\u0259fin\u0259 Daun sindromu ad\u0131n\u0131 alm\u0131\u015fd\u0131r.<\/p>\n
N\u0259dir Daun sindromu? Bu sual lap q\u0259dimd\u0259n bir \u00e7ox aliml\u0259ri maraqland\u0131rm\u0131\u015f, bir \u00e7oxlar\u0131 \u00fc\u00e7\u00fcn is\u0259 qat\u0131 a\u00e7\u0131lmam\u0131\u015f sirr kimi qalm\u0131\u015fd\u0131r. Lakin bu sindrom bar\u0259d\u0259 m\u0259lumatlar el\u0259 d\u0259 q\u0259dim\u0259 t\u0259sad\u00fcf el\u0259mir. \u00c7\u00fcnki aliml\u0259r son zamanlarda, y\u0259ni sitogenetikan\u0131n inki\u015faf\u0131ndan sonra tam olmasa da qism\u0259n Daun haqqda m\u0259lumatlar \u0259ld\u0259 el\u0259m\u0259y\u0259 nail olmu\u015flar.<\/p>\n
Daun sindromu 21 \u2013 ci c\u00fct xromosomlarda ba\u015f ver\u0259n anomaliya zaman\u0131 trisomiyan\u0131n \u0259m\u0259l\u0259 g\u0259lm\u0259sidir. Daha d\u0259qiq meyozun (qametogenezin) normal gedi\u015finin pozulmas\u0131 il\u0259 \u0259laq\u0259dard\u0131r. Yumurtah\u00fcceyr\u0259 v\u0259 spermatazoid mutasiyalara h\u0259ssas oldu\u011fundan bu sindromla d\u00fcnyaya g\u0259l\u0259n u\u015faqlar\u0131n say\u0131 kifay\u0259t q\u0259d\u0259rdir.<\/p>\n
Daun sindromunu ba\u015fqa bir s\u0259b\u0259bi d\u0259 xromosom traslokasiyas\u0131d\u0131r. Bel\u0259 ki, 15 \u2013 ci c\u00fct autosom xromosomlardan biri oldu\u011fu kimi qal\u0131r, lakin ikinci xromosomun bir hiss\u0259si delesiyaya u\u011fray\u0131r v\u0259 onun itirilmi\u015f hiss\u0259si 21 \u2013 ci c\u00fct xromosomlar\u0131n birinin t\u0259rkib hiss\u0259sin\u0259 ke\u00e7ir. Genotipd\u0259 46 xromosom olmas\u0131na baxmayaraq Daun sindromunun \u0259lam\u0259tl\u0259ri \u00f6z\u00fcn\u00fc biruz\u0259 verir.<\/p>\n
Daun sindromunu t\u00f6r\u0259d\u0259n s\u0259b\u0259bl\u0259rd\u0259n biri d\u0259 t\u0259rkibind\u0259 purin alkaloidl\u0259ri kofein, teobromin, teofillin olan madd\u0259l\u0259rin \u00e7ox q\u0259bul edilm\u0259sidir.<\/p>\n
Daun sindromlu k\u00f6rp\u0259 do\u011fmaq ehtimal\u0131 qad\u0131nlarda ya\u015f artd\u0131qca art\u0131r. \u00c7\u00fcnki h\u0259m yumurtah\u00fcceyr\u0259 h\u0259m d\u0259 spermatazoid haploid oldu\u011fundan mutasiyalara daha h\u0259ssasd\u0131rlar. Bu s\u0259b\u0259bd\u0259n 40 \u2013 45 ya\u015fl\u0131 qad\u0131nlar\u0131n daun sindromlu u\u015faq d\u00fcnyaya g\u0259tirm\u0259l\u0259rin\u0259 daha tez \u2013 tez rast g\u0259linir. Apar\u0131lan \u00e7oxsayl\u0131 t\u0259dqiqatlarda m\u0259lum olub ki, ya\u015f\u0131 35 – \u0259 q\u0259d\u0259r olan hamil\u0259 qad\u0131nlarda Daunlu u\u015faq do\u011fmaq 1:800, 35 ya\u015fdan yuxar\u0131 1:80 \u2013 dir. Y\u0259ni genetik risk 10 d\u0259f\u0259 art\u0131r. \u018fn \u0259sas\u0131 ya\u015f\u0131 40 \u2013 dan \u00e7ox olan qad\u0131nlarda bu nisb\u0259t 1:8 \u2013 dir. Buradan bel\u0259 \u00e7\u0131x\u0131r ki, genetik risk 100 d\u0259f\u0259 art\u0131r. Bu da anan\u0131n yumurtah\u00fcceyr\u0259sinin fizioloji qocalmas\u0131 il\u0259 \u0259laq\u0259dard\u0131r. Burada atan\u0131n he\u00e7 bir g\u00fcnah\u0131 yoxdur. \u00c7\u00fcnki o\u011flanlarda spermatazoid h\u0259ddi bulu\u011fa \u00e7atd\u0131qdan sonra yaran\u0131rsa, q\u0131zlarda yumurtah\u00fcceyr\u0259nin b\u00fcn\u00f6vr\u0259si ana b\u0259tnind\u0259 olark\u0259n qoyulur. Q\u0131z u\u015fa\u011f\u0131 yumurtah\u00fcceyr\u0259 il\u0259 do\u011fulur.Onun yumurtah\u00fcceyr\u0259si q\u0131z\u0131n ya\u015f\u0131ndan \u00e7ox olur. Y\u0259ni q\u0131z 35 ya\u015f\u0131nda olanda yumurtah\u00fcceyr\u0259 36 ya\u015f yar\u0131m olur. Ona g\u00f6r\u0259 d\u0259 Daun sindromlu k\u00f6rp\u0259nin do\u011fulmas\u0131 anan\u0131n ya\u015f\u0131 il\u0259 bir ba\u015fa \u0259laq\u0259lidir. Yumurtah\u00fcceyr\u0259nin ya\u015f\u0131 \u00e7ox olanda y\u0259ni normal reproduktiv ya\u015f h\u0259ddind\u0259n \u00e7ox olduqda genetik aparatda s\u0259hvl\u0259r olur. Buna h\u00fcceyr\u0259nin par\u00e7alanmas\u0131nda olan s\u0259hvl\u0259r d\u0259 deyilir. Bunlar t\u0259bii s\u0259hvl\u0259rdir. Burda g\u00fcnah n\u0259 atada n\u0259 d\u0259 anada yoxdur.\u018fsas s\u0259b\u0259b ya\u015f\u0131n \u00e7ox olmas\u0131ndad\u0131r. Amma b\u0259z\u0259n cavan qad\u0131nlarda da bu sindroma rast g\u0259linir.o da yen\u0259 h\u00fcceyr\u0259nin b\u00f6l\u00fcm\u0259sind\u0259 ba\u015f ver\u0259n s\u0259hvl\u0259rdir. Daun sindromu x\u0259st\u0259liyini qohumluq \u0259laq\u0259l\u0259rind\u0259 axtarmaq absurtdur.<\/p>\n
Daun sindromunun \u0259lam\u0259tl\u0259ri n\u0259dir? Apar\u0131lan t\u0259dqiqatlar say\u0259sind\u0259 bunu dem\u0259k olar ki, daun sindromunu da\u015f\u0131yan insanlar\u0131n \u0259ks\u0259riyy\u0259ti bir \u2013 birin\u0259 ox\u015fay\u0131r. Y\u0259ni onlarda boy q\u0131sa olur, \u0259qli inki\u015fafdan geri qal\u0131r, k\u0259ll\u0259si ki\u00e7ik v\u0259 yumru olub \u00fcz nahiyy\u0259sind\u0259 yast\u0131la\u015f\u0131r.<\/p>\n
Yanaqlar \u00fcz\u00fcn yast\u0131la\u015fm\u0131\u015f fonunda bir q\u0259d\u0259r \u00fcz\u0259 \u00e7\u0131x\u0131r. G\u00f6zl\u0259ri uzunsov v\u0259 ki\u00e7ik olur, g\u00f6z yar\u0131\u011f\u0131 \u00e7\u0259p, g\u00f6z buca\u011f\u0131nda d\u0259ri b\u00fck\u00fc\u015fl\u00fc, a\u011fz\u0131 yar\u0131a\u00e7\u0131q, dili b\u00f6y\u00fck, qarn\u0131 k\u00f6pm\u00fc\u015f, di\u015fl\u0259ri seyr\u0259k, \u0259z\u0259l\u0259l\u0259ri v\u0259 oynaqlar\u0131 z\u0259if inki\u015faf etmi\u015f olur. G\u00f6rm\u0259 poz\u011funlu\u011fu da m\u00fc\u015fahid\u0259 olunur. Qulaqlar\u0131 z\u0259if inki\u015faf edir. Skeletin normal inki\u015faf\u0131 pozuldu\u011fu \u00fc\u00e7\u00fcn daun sindromlu k\u00f6rp\u0259l\u0259r oturma\u011f\u0131 v\u0259 yerim\u0259yi gec \u00f6yr\u0259nir. H\u0259zm v\u0259 qan \u2013 damar sistemind\u0259 ciddi patalogiyalara rast g\u0259lins\u0259 d\u0259 ifrazat sistemind\u0259 el\u0259 d\u0259 k\u0259nara\u00e7\u0131xma \u00e7ox olmur.<\/p>\n
\u0130mmun sistemi z\u0259if olur, x\u0259st\u0259likl\u0259r\u0259 daha tez tutulur, x\u00fcsusi il\u0259 d\u0259 b\u0259dxass\u0259li \u015fi\u015fl\u0259r\u0259 tutulma riski \u00e7ox b\u00f6y\u00fckd\u00fcr.<\/p>\n
Beynin \u00fcmumi inki\u015fafdan qalmas\u0131 v\u0259 beyinciyin z\u0259if inki\u015faf el\u0259m\u0259si \u0259qli c\u0259h\u0259td\u0259n geriliy\u0259, el\u0259c\u0259 d\u0259 h\u0259r\u0259k\u0259tin normal koordinasiyas\u0131n\u0131n pozulmas\u0131na g\u0259tirib \u00e7\u0131xar\u0131r. Ki\u015fil\u0259r d\u00f6ls\u00fcz olur, qad\u0131nlar is\u0259 b\u0259z\u0259n n\u0259sil ver\u0259 bilir.<\/p>\n
Daun el\u0259 bir x\u0259st\u0259likdir ki, u\u015faq do\u011fulan andan \u00f6z\u00fcn\u00fc biruz\u0259 verir. \u018fg\u0259r u\u015fa\u011f\u0131n b\u00fct\u00fcn h\u00fcceyr\u0259l\u0259ri 47 xromosom da\u015f\u0131y\u0131rsa bu klassik Daundur. Bu Daun formas\u0131 u\u015faq do\u011fulark\u0259n onun xarici g\u00f6r\u00fcn\u00fc\u015f\u00fcnd\u0259, g\u00f6z\u00fcn\u00fcn, qulaqlar\u0131n\u0131n formas\u0131nda, \u0259lind\u0259ki \u015f\u0131r\u0131mlarda \u00f6z\u00fcn\u00fc g\u00f6st\u0259rir. Ola bil\u0259r ki, u\u015faqlarda bu x\u0259st\u0259liyin mozayiq formas\u0131 olsun. Y\u0259ni 47 xromosomla yana\u015f\u0131 genotipd\u0259 46 xromosom da olsun. Bel\u0259 Daun formas\u0131n\u0131n klinikas\u0131 klassik Dauna nisb\u0259t\u0259n asan ke\u00e7ir. Y\u0259ni bel\u0259 u\u015faqlar aras\u0131nda sa\u011f qalanlar\u0131 daha \u00e7ox olur.<\/p>\n
Amma genetik c\u0259h\u0259td\u0259n 3 c\u00fcr Daun x\u0259st\u0259liyini f\u0259rql\u0259ndirm\u0259k olar. Onlar\u0131n klinikas\u0131 bir \u2013 birin\u0259 \u00e7ox ox\u015fasa da genetikas\u0131 f\u0259rql\u0259nir. Buna baxmayaraq x\u0259st\u0259liyin h\u0259r 3 formas\u0131 fiziki, \u0259sas\u0259n d\u0259 \u0259qli geriliy\u0259 g\u0259tirib \u00e7\u0131xar\u0131r.<\/p>\n
D\u00fcnya sivilizasiyas\u0131 inki\u015faf etdikc\u0259 f\u0259sadlar\u0131 yava\u015f \u2013 yava\u015f aradan qald\u0131r\u0131lan bu x\u0259st\u0259lik h\u0259l\u0259 d\u0259 aliml\u0259r \u00fcz\u0259rind\u0259 hakim m\u00f6vqe tutur. M\u0259s\u0259l\u0259 buras\u0131ndad\u0131r ki, d\u00fcnyan\u0131n \u0259n inki\u015faf el\u0259mi\u015f \u00d6lk\u0259l\u0259ri d\u0259 bu sindromdan \u0259ziyy\u0259t \u00e7\u0259kir, onun a\u011fr\u0131 \u2013 ac\u0131s\u0131n\u0131 ya\u015fay\u0131r.<\/p>\n
AB\u015e \u2013 \u0131n \u201cMarch of Dayms\u201d t\u0259\u015fkilat\u0131n\u0131n 193 \u00f6lk\u0259d\u0259 apard\u0131\u011f\u0131 t\u0259dqiqat\u0131n n\u0259tic\u0259sind\u0259 deyilir \u201cD\u00fcnyada h\u0259r il 8 milyon k\u00f6rp\u0259 ciddi genetik x\u0259st\u0259likl\u0259 do\u011fulur\u201d. H\u0259min t\u0259\u015fkilat m\u00fcxt\u0259lif \u00f6lk\u0259l\u0259r \u00fc\u00e7\u00fcn d\u0259 a\u00e7\u0131qlamalar edib. M\u0259s\u0259l\u0259n h\u0259r 10000 k\u00f6rp\u0259y\u0259 d\u00fc\u015f\u0259n x\u0259st\u0259l\u0259rin say\u0131na g\u00f6r\u0259 Fransa, Avstriya, Avstraliya, \u0130sve\u00e7r\u0259 I yeri tutur.<\/p>\n
Bu \u00f6lk\u0259l\u0259rd\u0259 c\u0259mi 397 \u2013 425 u\u015faq ciddi genetik x\u0259st\u0259likl\u0259 d\u00fcnyaya g\u00f6z a\u00e7\u0131r. Bu s\u0131rada Russiya V (429 n\u0259f\u0259r); AB\u015e XX (478 n\u0259f\u0259r) yeri tutur. Avropa \u00f6lk\u0259l\u0259rind\u0259 \u0259n pis v\u0259ziyy\u0259t Almaniyadad\u0131r (779 n\u0259f\u0259r). Postsovet m\u0259kan\u0131nda \u0259n ac\u0131nacaql\u0131 v\u0259ziyy\u0259t Tacikistanda(752 n\u0259f\u0259r), Q\u0131r\u011f\u0131z\u0131standa(735 n\u0259f\u0259r), Az\u0259rbaycandad\u0131r(631 n\u0259f\u0259r). \u00dcmumiyy\u0259tl\u0259 ciddi genetik x\u0259st\u0259likl\u0259 do\u011fulan k\u00f6rp\u0259l\u0259rin katastrofik say\u0131 S. \u018fr\u0259bistan\u0131nda(820 n\u0259f\u0259r) v\u0259 Sudandad\u0131r.<\/p>\n
G\u00f6r\u00fcnd\u00fcy\u00fc kimi he\u00e7 d\u0259 t\u0259bab\u0259t bu istiqam\u0259td\u0259 el\u0259 d\u0259 bir n\u0259aliyy\u0259t \u0259ld\u0259 etm\u0259yib. Bununla yana\u015f\u0131 ir\u0259lil\u0259yi\u015fl\u0259r d\u0259 \u00e7oxdur. Bu istiqam\u0259td\u0259 h\u0259tta \u00f6lk\u0259mizd\u0259 d\u0259 n\u0259aliyy\u0259tl\u0259r \u0259ld\u0259 olunub. Burada M\u0259rk\u0259zi Neft\u00e7il\u0259r X\u0259st\u0259xanas\u0131n\u0131n b\u00f6y\u00fck xidm\u0259tl\u0259ri var. M\u0259s\u0259l\u0259 buras\u0131ndad\u0131r ki, MNX \u2013 n\u0131n laboratoriyas\u0131nda T\u00fcrkiy\u0259nin GENLAB laboratoriyas\u0131 il\u0259 birlikd\u0259 yoxlamalar apar\u0131l\u0131r. Bu laboratoriyadak\u0131 KR\u0130PTOR adl\u0131 cihaz vasit\u0259si il\u0259 Daun sindromunu a\u015fkar etm\u0259k m\u00fcmk\u00fcnd\u00fcr. \u018fvv\u0259lc\u0259 anadan qan g\u00f6t\u00fcr\u0259r\u0259k onun qan z\u0259rdab\u0131nda yoxlama apar\u0131rlar. 45 d\u0259q. \u0259rzind\u0259 apar\u0131lan yoxlamadan sonra u\u015faqda daun sindromu olub \u2013 olmad\u0131\u011f\u0131n\u0131 d\u0259qiql\u0259\u015fdirm\u0259k m\u00fcmk\u00fcnd\u00fcr. Bu yoxlama aparma\u011f\u0131n \u0259n yax\u015f\u0131 vaxt\u0131 hamil\u0259liyin birinci 3 ayl\u0131\u011f\u0131nda v\u0259 ya 12 \u2013 13 h\u0259ft\u0259liyind\u0259dir. \u018fg\u0259r ana gec m\u00fcraci\u0259t edibs\u0259 hamil\u0259liyin 16 \u2013 18 h\u0259ft\u0259liyind\u0259 anan\u0131n venas\u0131ndan qan g\u00f6t\u00fcr\u00fcl\u00fcr. 2q. z\u0259rdab ayr\u0131l\u0131r. Kriptor vasit\u0259sil\u0259 analiz apar\u0131l\u0131r. Bir saatdan sonra u\u015fa\u011f\u0131n x\u0259st\u0259 v\u0259 ya sa\u011flam olmas\u0131 m\u00fc\u0259yy\u0259n olunur. U\u015fa\u011f\u0131n Daun oldu\u011fu m\u00fc\u0259yy\u0259n edil\u0259nd\u0259 ana abort \u00fcsuluna m\u00fcraci\u0259t etm\u0259li olur. \u00dcmumiyy\u0259tl\u0259 xarici \u00f6lk\u0259l\u0259rd\u0259 ya\u015f\u0131 35 \u2013 d\u0259n yuxar\u0131 olan qad\u0131nlar aras\u0131nda Daun sindromunun d\u00f6l\u00fcn ana b\u0259tnind\u0259 diaqnostikas\u0131 apar\u0131lmaqla yana\u015f\u0131, bir qrup riskli qad\u0131nlar \u00f6zl\u0259ri bu testd\u0259n ke\u00e7irl\u0259r. H\u0259tta qohumluq \u0259laq\u0259l\u0259ri olan ail\u0259l\u0259rd\u0259 d\u0259 bu testl\u0259r apar\u0131l\u0131r. MNX \u2013 da apar\u0131lan bu test vasit\u0259si il\u0259 el\u0259 etm\u0259k olar ki, genetik riskli ail\u0259d\u0259 x\u0259st\u0259 u\u015faq do\u011fulmas\u0131n<\/p>\n
\u00dcmumiyy\u0259tl\u0259 genetik riskli ail\u0259l\u0259rd\u0259 x\u0259st\u0259 u\u015faqlar\u0131n do\u011fulmas\u0131n\u0131n qar\u015f\u0131s\u0131n\u0131 almaq \u00fc\u00e7\u00fcn bir \u00e7ox t\u0259dqiqatlar apar\u0131l\u0131b. M\u0259s\u0259l \u00fc\u00e7\u00fcn Avstraliya aliml\u0259rinin t\u0259dqiqat\u0131 t\u0259qdir\u0259 layiqdir. Daun sindromunun \u00f6yr\u0259nilm\u0259sinin yeni metodunu k\u0259\u015ff etmi\u015fl\u0259r. M\u0259lumdur ki, daun sindromu kifay\u0259t q\u0259d\u0259r geni\u015f yay\u0131lan genetik x\u0259st\u0259likdir. Onu ad\u0259t\u0259n 16 h\u0259ft\u0259lik d\u00f6ld\u0259 m\u00fc\u0259yy\u0259n etm\u0259k olur. Avropa konferensiyas\u0131na t\u0259qdim olunan yeni metod suni mayaland\u0131rma zaman\u0131 r\u00fc\u015feymin bir h\u00fcceyr\u0259sind\u0259 anan\u0131n u\u015faql\u0131\u011f\u0131na implantasiyas\u0131ndan qabaq t\u0259dqiqat aparma\u011fa imkan verir. Yeni metod vasit\u0259si il\u0259 ya\u015f\u0131 35 \u2013 d\u0259n yuxar\u0131 olan hamil\u0259 qad\u0131nlarda Daun sindromlu u\u015faq do\u011fma faizi s\u0131f\u0131ra enir. Bundan \u0259lav\u0259 bu test vasit\u0259si il\u0259 ba\u015fqa genetik x\u0259st\u0259likl\u0259rin d\u0259 vaxt\u0131nda qar\u015f\u0131s\u0131n\u0131 almaq olar. Avstraliya t\u0259dqiqat\u00e7\u0131lar\u0131 21 \u2013 ci xromosomda 6 sah\u0259 xarakteriz\u0259 edirl\u0259r. Hans\u0131 ki, bu sah\u0259l\u0259r h\u0259min xromosomun d\u0259qiq sur\u0259tini m\u00fc\u0259yy\u0259n \u00fctm\u0259k \u00fc\u00e7\u00fcn marker kimi istifad\u0259 olunur.<\/p>\n
Apar\u0131lan dig\u0259r t\u0259dqiqatlar say\u0259sin\u0259d\u0259 Britaniya aliml\u0259ri y\u00fcks\u0259k ekspressiyal\u0131 gen a\u015fkara \u00e7\u0131xarm\u0131\u015flar. Onlar\u0131n fikrinc\u0259 u\u00e7aqlarda Daun sinrdomunun inki\u015faf\u0131 bu genl\u0259 ba\u011fl\u0131 ola bil\u0259r. H\u0259min genin f\u0259aliyy\u0259t mexanizmini \u00f6yr\u0259nilm\u0259si neyrodegenerasiya x\u0259st\u0259likl\u0259ri zaman\u0131 beyin toxumalar\u0131n\u0131n m\u0259hvi prosesini dayand\u0131rma\u011fa qadir yeni m\u00fcalic\u0259 \u00fcsullar\u0131 haz\u0131rlanmas\u0131na yol a\u00e7acaqd\u0131r. Daun sinromunda genetik d\u0259std\u0259 xromosom normada oldu\u011fu kimi deyil, y\u0259ni 21 \u2013 ci c\u00fct xromosom \u00fc\u00e7d\u00fcr. T\u0259dqiqa\u00e7\u0131lar\u0131n diqq\u0259tini c\u0259lb ed\u0259n amiloidin s\u0259l\u0259fi olan gen d\u0259 m\u0259hz bu xromosomdad\u0131r. M\u0259lumdur ki, Daun sindromlu x\u0259st\u0259d\u0259 t\u0259lim, yadda\u015f, diqq\u0259t\u0259 g\u00f6r\u0259 cavabdeh olan sinir h\u00fcceyr\u0259l\u0259rinin k\u00fctl\u0259vi m\u0259hvi m\u00fc\u015fahid\u0259 olunur. Aliml\u0259r ox\u00e7ar pataloji prosesl\u0259ri bioloji modell\u0259rd\u0259 – amiloidinin s\u0259l\u0259fi olan genin 3 sur\u0259tin\u0259 malik g\u0259miricil\u0259rd\u0259 yaratma\u011fa \u00e7al\u0131\u015fm\u0131\u015flar. T\u0259dqiqat zaman\u0131 m\u0259lum olub ki, h\u0259min genin 3 d\u0259f\u0259 art\u0131r\u0131lmas\u0131 g\u0259miricil\u0259rin beyin neyronlar\u0131n\u0131n \u00f6l\u00e7\u00fcs\u00fcn\u00fc xeyli art\u0131r\u0131r. Layih\u0259nin \u0259laq\u0259l\u0259ndiricisi Uilyam Moblinin fikrinc\u0259 Daun sindromu zaman\u0131 beyind\u0259 yaranan pataloji prosesl\u0259r formas\u0131 d\u0259yi\u015fmi\u015f sinir h\u00fcceyr\u0259l\u0259ri aras\u0131nda \u0259laq\u0259nin pozulmas\u0131 il\u0259 \u0259laq\u0259dard\u0131r. M\u0259lumdur ki, amiloidinin s\u0259l\u0259fi olan genin m\u00fc\u0259yy\u0259n mutasiyalar\u0131 Altsgeymer x\u0259st\u0259liyinin erk\u0259n inki\u015faf\u0131na g\u0259tirib \u00e7\u0131xar\u0131r. Lakin, t\u0259cr\u00fcb\u0259 zaman\u0131 s\u00fcbuta yetirilmi\u015fdir ki, bu genin sur\u0259tl\u0259rinin \u00e7oxalmas\u0131 beynin f\u0259aliyy\u0259tini ciddi sur\u0259td\u0259 poza bil\u0259r. T\u0259dqiqat\u0131n n\u00f6vb\u0259ti m\u0259rh\u0259l\u0259sind\u0259 amiloidinin s\u0259l\u0259fi olan genin y\u00fcks\u0259k ekspressiyas\u0131 il\u0259 \u0259laq\u0259dar pataloji prosesin mexanizml\u0259ri \u00f6yr\u0259nil\u0259c\u0259kdir. Bu genin f\u0259aliyy\u0259tini dayand\u0131rmaq m\u00fcmk\u00fcn olsa Daun sindromu x\u0259st\u0259l\u0259rinin sa\u011falmas\u0131na \u00fcmid yaranacaq.<\/p>\n
Bununla b\u0259rab\u0259r Amerika aliml\u0259ri Daun sindrimunun inki\u015faf\u0131nda m\u00fch\u00fcm \u0259h\u0259miyy\u0259t\u0259 malik gen a\u015fkara \u00e7\u0131xarm\u0131\u015flar. Onlar \u0259qli gerilikl\u0259 xarakteriz\u0259 olunan bu x\u0259st\u0259liyin \u0259sas s\u0259b\u0259bini tap\u0131blar. A\u015fkara \u00e7\u0131xar\u0131lan bu gen Daun sindromunun inki\u015faf\u0131na s\u0259b\u0259b ola bil\u0259r. Tap\u0131lan genin sintez el\u0259diyi z\u00fclal\u0131n konsentrasiyas\u0131 y\u00fcks\u0259k olur v\u0259 beyin h\u00fcceyr\u0259l\u0259rini m\u0259hv el\u0259yir. Sintezi art\u0131r\u0131lm\u0131\u015f bu x\u00fcsusi z\u00fclal Daun sindromu \u00fc\u00e7\u00fcn xarakterdir. \u00c7\u00fcnki, x\u0259st\u0259l\u0259rd\u0259 bu genin 3 kopiyas\u0131 tap\u0131l\u0131b. Aliml\u0259r bu genin 3 \u2013 c\u00fc kopiyas\u0131n\u0131n t\u0259sirini dayand\u0131rma\u011fa \u00fcmid edirl\u0259r. Bu \u0259m\u0259liyyat\u0131n k\u00f6m\u0259yi il\u0259 Daun sindromu tamamil\u0259 dayand\u0131r\u0131la bil\u0259r.<\/p>\n
Daun sah\u0259sind\u0259 apar\u0131lan t\u0259dqiqatlarda Britaniya aliml\u0259rinin rolu \u0259v\u0259zsizdir. \u00c7\u00fcnki onlar\u0131n bu sah\u0259d\u0259 qazand\u0131\u011f\u0131 u\u011furlar diqq\u0259t\u0259 layiqdir. M\u0259s\u0259l\u0259 buras\u0131ndad\u0131r ki, onlar Daun sindromunu \u00f6yr\u0259nm\u0259yin yeni metodunu i\u015fl\u0259yib haz\u0131rlay\u0131blar. Y\u0259ni Britaniya aliml\u0259ri si\u00e7an\u0131n genotipin\u0259 insan\u0131n xromosomlar\u0131n\u0131 yeritm\u0259y\u0259 nail olmu\u015flar. Bu Daun sindromunun t\u0259dqiqind\u0259 yeni add\u0131md\u0131r. Bu dig\u0259r xromosom poz\u011funluqlar\u0131n\u0131 da t\u0259dqiq etm\u0259y\u0259 imkan ver\u0259c\u0259k. M\u0130LL\u0130 T\u0130BB\u0130 T\u018fDQ\u0130QATLAR institutundan Viktor Tibulovi\u00e7 v\u0259 LONDON NEVROLOG\u0130YA institutundan Elizabed Fi\u015fer genotipi 21 \u2013 ci c\u00fct xromosomu t\u0259\u015fkil ed\u0259n genl\u0259rin 90% – ni si\u00e7ana ke\u00e7irm\u0259y\u0259 m\u00fcv\u0259ff\u0259q olmu\u015flar. K\u00f6\u00e7\u00fcr\u00fcl\u0259n h\u00fcceyr\u0259l\u0259rd\u0259n k\u00f6t\u00fck kimi si\u00e7anlar\u0131n yeti\u015fdirilm\u0259sind\u0259 istifad\u0259 olunub. Fi\u00e7erin v\u0259 Tibulovi\u00e7in t\u0259dqiqi \u0259srar\u0259ngiz n\u0259tic\u0259 verib. Sonrak\u0131 n\u0259sild\u0259 h\u0259min si\u00e7andan olanlarda Daun sindromu meydana \u00e7\u0131x\u0131b. Y\u0259ni yadda\u015fnan h\u0259r\u0259k\u0259t\u0259 n\u0259zar\u0259t ed\u0259n sinir h\u00fcceyr\u0259l\u0259rind\u0259 patalogiyalar \u0259m\u0259l\u0259 g\u0259lib. H\u0259md\u0259 onlarda \u00fcr\u0259kd\u0259 q\u00fcsurlar da \u0259m\u0259l\u0259 g\u0259lib.<\/p>\n
B\u00fct\u00fcn bu t\u0259dqiqatlarla yana\u015f\u0131 \u00c7in aliml\u0259ri d\u00f6l\u00fcn qan analizi n\u0259tic\u0259sind\u0259 hans\u0131 genl\u0259rin aktivl\u0259\u015fdiyini m\u00fc\u0259yy\u0259n edibl\u0259r. Bu do\u011fu\u015fdan qabaq d\u00f6l\u00fcn irsi x\u0259st\u0259likl\u0259r\u0259 tutulub tutulmad\u0131\u011f\u0131n\u0131 m\u00fc\u0259yy\u0259n etm\u0259y\u0259 imkan verir. G\u00f6t\u00fcr\u00fclm\u00fc\u015f qan n\u00fcmun\u0259sind\u0259 aliml\u0259r d\u00f6ld\u0259 sintez olunan RNT molekullar\u0131n\u0131 izol\u0259 etmi\u015fl\u0259r. Bu molekullar d\u00f6l haqq\u0131nda genetik materiala malikdirl\u0259r. \u00c7ind\u0259 HONKONG universitetind\u0259 t\u0259dqiqat qrupu RNT t\u0259r\u0259find\u0259n kodla\u015fd\u0131r\u0131lan 2 hormonda \u2013 d\u00f6l laktogenind\u0259 v\u0259 xroniki qonodotropind\u0259 kodla\u015fd\u0131r\u0131lman\u0131n s\u0259viyy\u0259sini m\u00fc\u0259yy\u0259n etm\u0259k \u00fc\u00e7\u00fcn fl\u00fcoressent zondundan istifad\u0259 etmi\u015fl\u0259r. Qalxan s\u0259viyy\u0259 Daunu m\u00fc\u0259yy\u0259n edir. \u00dcmumiyy\u0259tl\u0259 apar\u0131lan t\u0259dqiqatlar\u0131n he\u00e7 biri orqanizm \u00fc\u00e7\u00fcn z\u0259r\u0259rli deyil.<\/p>\n
B\u00fct\u00fcn bu testl\u0259r, analizl\u0259r, yoxlamalar u\u015faq d\u00fcnyaya g\u0259lm\u0259mi\u015f t\u0259tbiq olunur. B\u0259s u\u015faq d\u00fcnyaya g\u0259ldi onda n\u0259 etm\u0259li? Bizi d\u00fc\u015f\u00fcnd\u00fcr\u0259n \u0259sas m\u0259s\u0259l\u0259 d\u0259 bundan ibar\u0259tdir. H\u0259l\u0259 ki, t\u0259bab\u0259t bu y\u00f6n\u00fcmd\u0259 g\u00fccs\u00fczd\u00fcr. B\u0259s bu insanlar\u0131n, bu m\u0259sum k\u00f6rp\u0259l\u0259rin aqib\u0259ti nec\u0259 olacaq? Onda ana m\u0259h\u0259bb\u0259ti, ata qay\u011f\u0131s\u0131 bu k\u00f6rp\u0259l\u0259r\u0259 m\u0259lh\u0259m ola bil\u0259r. D\u00fc\u00e7ar olduqlar\u0131 bu x\u0259st\u0259liyi tam sa\u011falda bilm\u0259s\u0259 d\u0259, valideyn m\u0259h\u0259bb\u0259ti il\u0259 m\u0259n\u0259vi d\u0259st\u0259k olmaq olar. \u00c7ox t\u0259\u0259ss\u00fcf ki, h\u0259l\u0259 bu g\u00fcn\u0259 q\u0259d\u0259r Daun sindromlu k\u00f6rp\u0259l\u0259rin tam say\u0131 m\u0259lum deyil. S\u0259b\u0259b is\u0259 \u0259ks\u0259r valideynl\u0259rin u\u015faqlar\u0131n\u0131 el\u0259 do\u011fum evind\u0259c\u0259 qoyub getm\u0259l\u0259ridir. Bu u\u015faqlara bel\u0259 laqeyd m\u00fcnasib\u0259t b\u0259sl\u0259m\u0259k insanl\u0131\u011fa s\u0131\u011fmaz bir seydir. Russiya psixoloqlar\u0131 Daun sindromlu u\u015faqlar\u0131n m\u0259kt\u0259bd\u0259 t\u0259hsil almas\u0131n\u0131 q\u0259tiyy\u0259tl\u0259 t\u0259kid edirl\u0259r. Onlar bel\u0259 hesab edirl\u0259r ki, onda Daun olan u\u015faq ya\u015fad\u0131\u011f\u0131 normal c\u0259miyy\u0259t\u0259 can atacaqd\u0131r. Onlar deyir \u201cDaun normal insan\u0131 m\u00fc\u015fahid\u0259 etm\u0259lidir ki, onun kimi olma\u011fa \u00e7al\u0131\u015fs\u0131n\u201d. 10 ill\u0259rin t\u0259cr\u00fcb\u0259si g\u00f6st\u0259rir ki, Daunu \u00e7ox \u015fey\u0259 – yazma\u011fa, dan\u0131\u015fma\u011fa, h\u0259tta \u015f\u0259kil d\u0259 \u00e7\u0259km\u0259y\u0259 \u00f6yr\u0259tm\u0259k olar. Psixoloqlar\u0131n Russiyan\u0131n Novosibirsk vilay\u0259tind\u0259 balaca Sonya \u00fcz\u0259rind\u0259 apard\u0131qlar\u0131 t\u0259dqiqatlar bunu dem\u0259y\u0259 imkan verir. Valideyn m\u0259h\u0259bb\u0259ti il\u0259 b\u00f6y\u00fcd\u00fcl\u0259n Sonya iti Dik\u0259 \u015fer d\u0259 yazm\u0131\u015fd\u0131.<\/p>\n
\u0411\u044b\u043b\u0438 \u0443 \u043f\u0430\u043f\u044b \u0434\u0440\u0443\u0437\u044c\u044f \u2013 \u043c\u0443\u0436\u0438\u043a\u0438<\/p>\n
\u0422\u044c\u0444\u0443, \u0430 \u043e\u0441\u0442\u0430\u043b\u0441\u044f \u043e\u043d \u043e\u0434\u0438\u043d<\/p>\n
\u041b\u0430\u0441\u043a\u043e\u0432\u044b\u0439, \u0431\u043e\u043b\u044c\u0448\u043e\u0439<\/p>\n
\u041d\u0430\u0448 \u0437\u0430\u0449\u0438\u0442\u043d\u0438\u043a \u0438 \u0434\u0440\u0443\u0433<\/p>\n
\u0411\u044b\u043b \u043e\u043d \u043f\u0430\u043f\u0438\u043d, \u0430 \u0441\u0442\u0430\u043b \u043e\u043d \u043d\u0430\u0448\u0438\u043c<\/p>\n
\u041b\u044e\u0431\u0438\u043c\u044b\u043c, \u0445\u043e\u0440\u043e\u0448\u0438\u043c \u0438 \u043d\u0435\u0436\u043d\u044b\u043c<\/p>\n
\u0423 \u0441\u043e\u0431\u0430\u043a\u0438 \u0435\u0441\u0442\u044c \u0434\u0443\u0448\u0430<\/p>\n
\u0410 \u0443 \u0447\u0435\u043b\u043e\u0432\u0435\u043a\u0430? \u0412\u043e\u0442 \u0432\u043e\u043f\u0440\u043e\u0441!<\/p>\n
—————-<\/p>\n
M\u0259nb\u0259: Med Ekspert sayt\u0131<\/p>\n
http:\/\/www.medekspert.az\/index.php?type=xebergoster&id=392<\/p>\n","protected":false},"excerpt":{"rendered":"
Daun sindromlu diaqnoz \u0259n d\u0259h\u015f\u0259tli diaqnozlardan biridir. Bu sindrom 1866 \u2013 c\u0131 ild\u0259n m\u0259lumdur. Bel\u0259 ki, ingilis h\u0259kimi Lanqdan Daun xarakter x\u00fcsusiyy\u0259ti olan bu x\u0259st\u0259liyi bir q\u0131z u\u015fa\u011f\u0131nda m\u00fc\u015fahid\u0259 el\u0259mi\u015f, v\u0259 onu \u201cmonqolizm\u201d adland\u0131rm\u0131\u015fd\u0131r. Sonralar bu x\u0259st\u0259lik onun \u015f\u0259r\u0259fin\u0259 Daun sindromu ad\u0131n\u0131 alm\u0131\u015fd\u0131r. N\u0259dir Daun sindromu? Bu sual lap q\u0259dimd\u0259n […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[63],"tags":[],"class_list":["post-6083","post","type-post","status-publish","format-standard","hentry","category-meqaleler"],"_links":{"self":[{"href":"https:\/\/adsa.az\/index.php?rest_route=\/wp\/v2\/posts\/6083","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/adsa.az\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/adsa.az\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/adsa.az\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/adsa.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=6083"}],"version-history":[{"count":1,"href":"https:\/\/adsa.az\/index.php?rest_route=\/wp\/v2\/posts\/6083\/revisions"}],"predecessor-version":[{"id":6084,"href":"https:\/\/adsa.az\/index.php?rest_route=\/wp\/v2\/posts\/6083\/revisions\/6084"}],"wp:attachment":[{"href":"https:\/\/adsa.az\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=6083"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/adsa.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=6083"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/adsa.az\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=6083"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}