KALITIM<\/p>\n
Canl\u0131lar aras\u0131ndaki benzerlik ve farkl\u0131l\u0131klar\u0131n, ortaya \u00e7\u0131kmas\u0131n\u0131 sa\u011flayan, bunlar\u0131n anne babadan \u00e7ocu\u011fa nas\u0131l ge\u00e7ti\u011fini, kal\u0131tsal hastal\u0131klar\u0131 ve tedavileri inceleyen bilim dal\u0131d\u0131r.Ayn\u0131 t\u00fcr canl\u0131lar kendi aralar\u0131nda g\u00f6r\u00fcn\u00fc\u015f olarak farkl\u0131l\u0131k g\u00f6sterirler(sa\u00e7 rengi, g\u00f6z rengi vb. ).Kal\u0131t\u0131m\u0131n di\u011fer bir ad\u0131 da soya\u00e7ekimdir. B\u00fct\u00fcn canl\u0131larda g\u00f6r\u00fcl\u00fcr.<\/p>\n
KALITSAL HASTALIKLAR<\/p>\n
Genlerle yavrulara ge\u00e7en \u00f6zelliklere kal\u0131tsal \u00f6zellikler denir (kan grubu, g\u00f6z rengi, \u00e7ok parmakl\u0131l\u0131k, renk k\u00f6rl\u00fc\u011f\u00fc vb.).Baz\u0131 hastal\u0131klar havada, suda yiyecek ve i\u00e7eceklerde bulunan mikroplardan ileri gelir.Baz\u0131lar\u0131n\u0131n nedeni doku ve organlar\u0131n zamanla y\u0131pranmas\u0131d\u0131r. Kal\u0131tsal hastal\u0131klar yada bozukluklar ise kusurlu genlerin ku\u015faktan ku\u015fa\u011fa aktar\u0131lmas\u0131ndan kaynaklan\u0131r.Bir canl\u0131n\u0131n b\u00fcy\u00fcmesi, geli\u015fmesi ve ya\u015fam\u0131n\u0131 s\u00fcrd\u00fcrmesi i\u00e7in gerekli bilgileri ta\u015f\u0131yan kal\u0131t\u0131m birimlerine gen denir. Genler DNA\u2019dan(deoksiribon\u00fckleik asitten)yap\u0131lm\u0131\u015ft\u0131r.Yeni do\u011fan bir bebek genlerini kal\u0131t\u0131m yoluyla anne-babas\u0131ndan al\u0131r. E\u011fer b\u00fct\u00fcn genleri normal ise, yani sa\u011fl\u0131kl\u0131 bir insan da bulunmas\u0131 gereken \u00f6zellikleri ta\u015f\u0131yor ve hepsi \u00fcst\u00fcne d\u00fc\u015fen g\u00f6revi eksiksiz yerine getirebiliyorsa bebek sa\u011fl\u0131kl\u0131 do\u011facakt\u0131r.Ama baz\u0131 bebeklerde, anne ya da babadan gelen kromozomlar\u0131n biri ya da bir ka\u00e7\u0131 kusurlu olabilir. Bu durumda v\u00fccuttaki baz\u0131 etkinlikler bu bozuk genlerin aktard\u0131\u011f\u0131 yanl\u0131\u015f bilgiye g\u00f6re y\u00f6nlendirilece\u011finden bebekte kal\u0131tsal bir bozukluk ya da hastal\u0131k ortaya \u00e7\u0131kar.Bir\u00e7ok \u00fclkede yakla\u015f\u0131k her 30 bebekten birinde kal\u0131tsal bir hastal\u0131k ya da bozukluk s\u00f6z konusudur. Kal\u0131tsal hastal\u0131klar\u0131n bir \u00e7o\u011fu ameliyatla, ila\u00e7larla ve \u00e7e\u015fitli uygulamalarla denetim alt\u0131na al\u0131narak hasta \u00e7ocuklar\u0131n ya\u015famlar\u0131n\u0131 normal olarak s\u00fcrd\u00fcrmeleri sa\u011flanabilir.<\/p>\n
KALITSAL HASTALIKLARIN TANISI<\/p>\n
Bir insan\u0131n en do\u011fal haklar\u0131ndan birisi sa\u011fl\u0131kl\u0131 olarak d\u00fcnyaya gelebilmektir.G\u00fcn\u00fcm\u00fczde uygulanan bir\u00e7ok do\u011fum \u00f6ncesi tan\u0131 y\u00f6ntemiyle bu hedefe olduk\u00e7a yakla\u015f\u0131lm\u0131\u015ft\u0131r. Gene de istenen sonu\u00e7lar\u0131n elde edilmesi i\u00e7in aile bilin\u00e7li davranmal\u0131,hekim de bu y\u00f6ntemleri usul\u00fcne uygun bi\u00e7imde kullanmal\u0131d\u0131r. B\u00f6ylece do\u011fum \u00f6ncesinde baz\u0131 riskler \u00f6nlenebilecek ve var olan sorunlar uygun y\u00f6ntemlerle \u00e7\u00f6z\u00fclebilecektir.Kal\u0131tsal (genetik) hastal\u0131klara yakla\u015f\u0131mda temel ilke bunlar\u0131n ortaya \u00e7\u0131kmas\u0131n\u0131 engellemektir. Bu ilke tedavi edilmeyen hastal\u0131klar kadar tedavi edilebilen hastal\u0131klar i\u00e7in de ge\u00e7erlidir.Kal\u0131tsal hastal\u0131klar\u0131n bir b\u00f6l\u00fcm\u00fc d\u00fczeltilebilen bozukluklard\u0131r. \u00d6rne\u011fin tav\u015fan dudak\u00e7a da bir\u00e7ok do\u011fumsal kalp hastal\u0131\u011f\u0131 do\u011fumsal y\u00f6ntemlerle tedavi edilebilir. Baz\u0131 kal\u0131tsal hastal\u0131klar da ise eksik olan madde d\u0131\u015far\u0131dan verilerek tedavi sa\u011flan\u0131r.Bunun \u00f6rnekleri hipotiroidizmde tiroide hormonu kullan\u0131lmas\u0131 ve hemofili hastal\u0131klar\u0131na fakt\u00f6r VIII verilmesidir. baz\u0131 metabolizma \u00fcr\u00fcnlerinin v\u00fccutta birikmesine ba\u011fl\u0131 hastal\u0131klarda ise bu birikimi \u00f6nleyen ila\u00e7lar kullan\u0131l\u0131r.Baz\u0131 hastal\u0131klar da sa\u011fl\u0131kl\u0131 bir insandan al\u0131nan genlerin hastan\u0131n gen yap\u0131s\u0131na eklenmesiyle tedavi edilebilir.<\/p>\n
GENET\u0130K DANI\u015eMANLIK<\/p>\n
Genetik dan\u0131\u015fmanl\u0131k bireyin ta\u015f\u0131d\u0131\u011f\u0131 kal\u0131tsal hastal\u0131\u011f\u0131n \u00e7ocuklar\u0131na ge\u00e7mesi riski, bu hastal\u0131\u011f\u0131n tedavisi, sonu\u00e7lar\u0131 ve \u00f6nlenmesi konusunda onu bilgilendirmeyi sa\u011flar.Genetik dan\u0131\u015fmanl\u0131k i\u00e7in ba\u015fvuran bireyin ailesi uzak akrabalar\u0131na kadar incelenir ve bir soya\u011fac\u0131 olu\u015fturulur. Soya\u011fac\u0131nda yer alan ki\u015filerin hangilerinde kal\u0131tsal hastal\u0131k oldu\u011fu saptan\u0131r ve bireyin hastal\u0131\u011f\u0131 \u00e7ocuklar\u0131na aktarma riski hesaplan\u0131r. Genetik dan\u0131\u015fmanl\u0131k i\u00e7in ba\u015fvuran anne baba aday\u0131n\u0131n aras\u0131nda kan akrabal\u0131\u011f\u0131 varsa, bu ba\u011f\u0131n kal\u0131tsal hastal\u0131k riskini artt\u0131raca\u011f\u0131 anlat\u0131l\u0131r.Anne baban\u0131n do\u011fdu\u011fu ya da ya\u015fad\u0131\u011f\u0131 yer birbirine ne kadar yak\u0131nsa, aralar\u0131nda kan ba\u011f\u0131 olmasa bile, kal\u0131tsal hastal\u0131kl\u0131 \u00e7ocuk sahibi olma risklerinin \u00f6tekilere g\u00f6re daha y\u00fcksek oldu\u011fu ileri s\u00fcr\u00fclmektedir.Anne ve baba aday\u0131n\u0131n genetik dan\u0131\u015fmanl\u0131\u011fa ba\u015fvurmas\u0131n\u0131 gerektiren durumlar;Anne veya babada ya da her ikisinde kal\u0131tsal hastal\u0131k varsa,Adaylardan birinin ya da ikisinin ya\u015flar\u0131n\u0131n ileri olmas\u0131,Anne ve baban\u0131n kal\u0131tsal hastal\u0131klar\u0131n s\u0131k g\u00f6r\u00fcld\u00fc\u011f\u00fc bir yerden gelmeleri,Anne ve baba aras\u0131nda kan ba\u011f\u0131 bulunmas\u0131,Annenin art arda d\u00fc\u015f\u00fck yapm\u0131\u015f olmas\u0131,Annenin hamileli\u011fin ilk haftalar\u0131nda \u015fiddetli bir enfeksiyon ge\u00e7irmi\u015f olmas\u0131,Aile bireylerinden birisinde kal\u0131tsal bir hastal\u0131k ve ya do\u011fu\u015ftan sakatl\u0131k bulunmas\u0131,Anne ya da baban\u0131n \u00f6nceden kal\u0131tsal hastal\u0131\u011f\u0131 olan bir \u00e7ocu\u011funun olmas\u0131.<\/p>\n
KALITSAL HASTALIK TA\u015eIYAN B\u0130REYLER\u0130N SAPTANMASI<\/p>\n
Kal\u0131tsal hastal\u0131k ta\u015f\u0131yan bireylerin daha hastal\u0131k belirtileri ortaya \u00e7\u0131kmadan saptanmas\u0131 gerekir.Kal\u0131tsal bozukluklar\u0131n baz\u0131lar\u0131 bebe\u011fin d\u00fcnyaya geli\u015finden \u00f6nce , baz\u0131lar\u0131 do\u011fumdan k\u0131sa bir s\u00fcre sonra, bir b\u00f6l\u00fcm\u00fc de s\u00fct \u00e7ocuklu\u011fu d\u00f6neminde saptan\u0131r.Kal\u0131tsal hastal\u0131k ta\u015f\u0131yan bebeklerin belirlenmesi bir an \u00f6nce tedaviye ba\u015flamas\u0131n\u0131 sa\u011flar. B\u00f6ylece belirtilerin \u015fiddetinin azalmas\u0131 sa\u011flan\u0131r ya da ortaya \u00e7\u0131kmas\u0131 engellenir. Bazen hastal\u0131k kesin bi\u00e7imde tedavi edilir.Bu noktada akla bir soru gelmektedir. Genetik hastal\u0131klar\u0131n engellenmesi i\u00e7in b\u00fct\u00fcn \u00e7iftler mi taranmal\u0131, yoksa \u00f6n elemelere ba\u011fl\u0131 olarak baz\u0131 risk gruplar\u0131 m\u0131 incelenmelidir ? Baz\u0131 hastal\u0131klar i\u00e7in kitlesel tarama testlerine gerek yoktur ; \u00e7\u00fcnk\u00fc bunlar\u0131n ta\u015f\u0131y\u0131c\u0131s\u0131 olan bireylerin say\u0131s\u0131 \u00e7ok y\u00fcksek de\u011fildir. \u00d6rne\u011fin ; deri, pul t\u00fcy ve k\u0131llarda sar\u0131 ,k\u0131rm\u0131z\u0131 ya da siyah pigmentlerin eksikli\u011fi bu t\u00fcr hastal\u0131klard\u0131r. Ama kistik fibroz gibi tedavi y\u00f6ntemleri k\u0131s\u0131tl\u0131 bir hastal\u0131\u011f\u0131n toplumda taranmas\u0131 , bu hastal\u0131\u011f\u0131n s\u0131kl\u0131\u011f\u0131n\u0131n azalmas\u0131na \u00f6nemli katk\u0131da bulunacakt\u0131r.Baz\u0131 toplumlarda kal\u0131tsal hastal\u0131klar daha \u00e7ok g\u00f6r\u00fcl\u00fcr. \u00d6rne\u011fin Akdeniz denen hastal\u0131k \u00f6zellikle Akdeniz havas\u0131nda yayg\u0131nd\u0131r. Orak h\u00fccreli kans\u0131zl\u0131k ise Orta Afrika\u2019da ve Ege Denizi\u2019ndeki baz\u0131 adalarda daha s\u0131k ortaya \u00e7\u0131kar.Kal\u0131tsal hastal\u0131klar konusunda Toplumdaki eksik ve ya yanl\u0131\u015f bilgiler Az say\u0131da aile bireyinde bir hastal\u0131\u011f\u0131n kal\u0131tsal olup olmad\u0131\u011f\u0131,Do\u011fumsal bir hastal\u0131\u011f\u0131n mutlaka kal\u0131tsal oldu\u011fu, (Hamilelikte al\u0131nan ila\u00e7lar da olabilir)Kal\u0131tsal hastal\u0131klar\u0131n tedavi edilemedi\u011fi,Gebelikte annenin ge\u00e7irdi\u011fi baz\u0131 fiziksel ya da psikolojik rahats\u0131zl\u0131lar\u0131n\u0131n bebekte sakatl\u0131\u011fa yol a\u00e7aca\u011f\u0131,D\u00f6rtte bir olas\u0131l\u0131kla ortay \u00e7\u0131kan kal\u0131tsal bir hastal\u0131\u011f\u0131n ilk bebekte ortaya \u00e7\u0131kmas\u0131 durumunda , sonraki bu hastal\u0131\u011f\u0131n kesinlikle g\u00f6r\u00fclmeyece\u011fi,Kal\u0131tsal hastal\u0131klar\u0131n kendini do\u011fumda ya da ilk g\u00fcnlerde belli etti\u011fi (baz\u0131 hastal\u0131klar ileri ya\u015flarda da belirti verebilir) ,Ailede kal\u0131tsal hastal\u0131k yaln\u0131zca kad\u0131nlarda ya da erkeklerde g\u00f6r\u00fcl\u00fcyorsa , bunu cinse ba\u011fl\u0131 olarak \u00e7ocuklara ge\u00e7ece\u011fi.<\/p>\n
Do\u011fum \u00f6ncesi tan\u0131<\/p>\n
G\u00fcn\u00fcm\u00fczde bir\u00e7ok genetik ve do\u011fumsal hastal\u0131k i\u00e7in ,bebe\u011fin anne karn\u0131nda oldu\u011fu d\u00f6nemde tan\u0131 olana\u011f\u0131 vard\u0131r.Do\u011fum \u00f6ncesi tan\u0131 y\u00f6ntemlerinin bir\u00e7ok yarar\u0131 vard\u0131r :
\n Erken d\u00f6nemde hastal\u0131\u011f\u0131n tan\u0131nmas\u0131n\u0131 sa\u011flar.
\n Risk grubunda bulunan anne ve baba adaylar\u0131n\u0131 beklentilerine yan\u0131t verir. Olas\u0131 kal\u0131tsal hastal\u0131\u011f\u0131n bebekte g\u00f6r\u00fclmedi\u011fi kesin olarak belirlenir. A\u011f\u0131r kal\u0131tsal bozukluklar s\u00f6z konusu oldu\u011funda ailenin izniyle gebelik ilerlemeden sonland\u0131r\u0131labilir. Baz\u0131 kal\u0131tsal hastal\u0131klar\u0131n s\u0131k g\u00f6r\u00fcld\u00fc\u011f\u00fc b\u00f6lgelerde do\u011fum \u00f6ncesi tan\u0131 y\u00f6ntemlerinin yayg\u0131n olarak kullan\u0131lmas\u0131, bu hastal\u0131lar\u0131n g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131n\u0131 belirgin bi\u00e7imde azaltabilir.Do\u011fum sonras\u0131 tedavi edilebilen hastal\u0131klar\u0131n \u00f6nceden saptanmas\u0131, tedavi ekibinin haz\u0131rl\u0131kl\u0131 olmas\u0131 , do\u011fum zaman\u0131n\u0131 belirlemesi ve tedaviyi uygun bi\u00e7imde y\u00f6nlendirilmesini sa\u011flar.<\/p>\n
BA\u015eLICA KALITSAL HASTALIKLAR1<\/p>\n
-HEMOF\u0130L\u0130<\/p>\n
Bozuk genlerin bir araya gelmesiyle kan\u0131n p\u0131ht\u0131la\u015fmamas\u0131 \u015feklinde ortaya \u00e7\u0131kan hastal\u0131kt\u0131r.Aile i\u00e7i birle\u015fmeler sonucu oldu\u011fu yanl\u0131\u015f yere san\u0131lm\u0131\u015f olan bu hastal\u0131k ,\u00f6zellikle ku\u015faklar boyu Avrupa krall\u0131k s\u00fclalerini kas\u0131p kavurdu\u011fun , \u00e7ok \u00fcnl\u00fcd\u00fcr.Kurban,hemenher zaman bir erkektir ve hastal\u0131k b\u00fct\u00fcn erkeklere \u201cta\u015f\u0131y\u0131c\u0131\u201d olarak adland\u0131r\u0131lan annelerinden ge\u00e7er.G\u00fcn\u00fcm\u00fczde bu hastal\u0131\u011f\u0131n g\u00f6r\u00fcld\u00fc\u011f\u00fc birka\u00e7 kad\u0131n,hem hemofilili bir babaya,hem de ta\u015f\u0131y\u0131c\u0131 bir anneye sahip olma \u015fans\u0131zl\u0131\u011f\u0131na u\u011fratm\u0131\u015ft\u0131r.Hemofili \u00e7ok ender g\u00f6r\u00fclen bir hastal\u0131k oldu\u011fundan,son olarak s\u00f6z\u00fc edilen durum son derece ender bir durumdur.Pek \u00e7ok ailenin durumu uzun y\u0131llar boyunca a\u00e7\u0131kl\u0131k kazanmaz.Ailelerin \u00e7o\u011fu i\u00e7in ilk ta\u015f\u0131y\u0131c\u0131lar konusundaki klinik detaylar eksiktir ve unutulmu\u015ftur.Fakat kraliyet aileleri s\u00f6z konusu oldu\u011funda durum de\u011fi\u015fir.7 nisan 1853\u2032te ,kloroform kullan\u0131larak yap\u0131lan do\u011fum da,krali\u00e7e Viktorya\u2019n\u0131n hemofili ta\u015f\u0131d\u0131\u011f\u0131n\u0131 ortaya koyuyordu.Kan\u0131n *****izmas\u0131ndaki bozuklu\u011fa yol sakat geni,X kromozomunu ta\u015f\u0131r;bu,\u201dcinsiyete ba\u011fl\u0131 karakteristik \u201d ad\u0131yla bilinen durumdur.Cinsiyet kromozomlar\u0131 insan\u0131n cinsiyetini tayin eder .Fakat ayn\u0131 zamanda ,cinsiyetten ba\u011f\u0131ms\u0131z olan renk k\u00f6rl\u00fc\u011f\u00fc aralar\u0131 biti\u015fik parmaklar ,kas sakatl\u0131klar\u0131 ve hemofili gibi karakteristikleri i\u00e7eren genlere de sahiptirler.Erkek \u00e7ocuk X kromozomunu hi\u00e7bir zaman babas\u0131ndan almay\u0131p her zaman annesinden al\u0131r.Kad\u0131nlar da ise hastal\u0131k g\u00f6r\u00fclmez ,\u00e7\u00fcnk\u00fc sadecedir kusurlu ,\u00f6b\u00fcr\u00fcyse normal olan iki X vard\u0131r ;normal olan.yeterli p\u0131ht\u0131la\u015ft\u0131r\u0131c\u0131 unsuru sa\u011flar .Kad\u0131n,k\u0131z ve o\u011fullar\u0131n\u0131n her birine X kromozomlar\u0131ndan birini verecektir \u00c7ocuklar kusurlu olan\u0131 alabilecekleri gibi kusursuz olan\u0131 da alabilirler .K\u0131zlar\u0131n ta\u015f\u0131y\u0131c\u0131 o\u011fullar\u0131n\u0131n hemofilili olma \u015fans\u0131n\u0131n yar\u0131 yar\u0131ya olu\u015fu buradan gelmektedir.Durumun ilk olarak ortaya \u00e7\u0131kmas\u0131na Leopold yol a\u00e7t\u0131;\u00e7ok ufak tefek yaralar b\u00fcy\u00fck kanamalara yol a\u00e7\u0131yordu ve vaftizi uzun s\u00fcre geciktirildi. Leopold\u2019un b\u00fct\u00fcn \u00e7ocuklu\u011fu \u00e7e\u015fitli hastal\u0131klarla dolu ge\u00e7mi\u015fti ve yirmi alt\u0131 ya\u015f\u0131ndayken bile annesi Avusturya yolcu\u011funa izin vermedi.Bu yolculuk,krali\u00e7enin yazm\u0131\u015f oldu\u011fu gibi,hem prensin sa\u011fl\u0131\u011f\u0131n\u0131 hem de onu merak etmekten kendi sa\u011fl\u0131\u011f\u0131n\u0131 tehlikeye sokacakt\u0131 .Bununla beraber \u00fc\u00e7 y\u0131l sonra evlenmesine izin verdi.K\u00fc\u00e7\u00fck bir kazan\u0131n sebebiyet verdi\u011fi b\u00fcy\u00fck bir kanamadan \u00f6ld\u00fc\u011f\u00fcnde Leopold un bir k\u0131z\u0131 vard\u0131 ve kar\u0131s\u0131 erkek do\u011facak bir \u00e7ocu\u011fa gebeydi.Leopold un hastal\u0131\u011f\u0131 k\u0131z\u0131na ge\u00e7irmesinden \u00f6nce(erkek \u00e7ocuknormaldi ,krali\u00e7e Viktorya ailelerinin \u201cbu m\u00fcthi\u015f hastal\u0131\u011f\u0131n pen\u00e7esinde\u201d oldu\u011funu yazmas\u0131na sebep olan ba\u015fka belirtilere de \u015fahit olmu\u015ftu.Leopoldan on y\u0131l \u00f6nce do\u011fan Alice ,1862\u2032de evlenmi\u015fti.\u0130ki k\u0131z ta\u015f\u0131y\u0131c\u0131,Leopold\u2019un \u00f6l\u00fcm\u00fcnden on bir y\u0131l \u00f6nce \u00fc\u00e7 ya\u015f\u0131ndayken,pencereden d\u00fc\u015fmesini sebebiyet verdi\u011fi kanamadan \u00f6len o\u011flu dahemofililiydi.\u015eimdilik hemofiliye bir \u00e7ara bulunamam\u0131\u015ft\u0131r fakat p\u0131ht\u0131la\u015ft\u0131r\u0131c\u0131 madde k\u0131sa bir s\u00fcre etkili olmak \u00fczere zerk edilebilir.Bu s\u00fcre ancak bir g\u00fcnd\u00fcr. Ge\u00e7mi\u015fte kanama korkusu hastal\u0131kl\u0131 bir kimseye hi\u00e7bir \u015fey yapt\u0131r\u0131lmamas\u0131na yol a\u00e7ard\u0131.G\u00fcn\u00fcm\u00fczde,hemofilli \u00e7ocuklarla u\u011fra\u015fmak \u00fczere \u00f6zel al\u00e7ak boyda ve pamuk doldurulmu\u015f e\u015fyal\u0131 \u00e7\u0131k\u0131nt\u0131s\u0131z d\u00f6\u015femeli ve yumu\u015fak oyuncakl\u0131 kre\u015fler vard\u0131r.Fakat a\u015f\u0131r\u0131 korunman\u0131n da ziyanl\u0131 oldu\u011fu belirtilmektedir.G\u00fcn\u00fcm\u00fcze kadar bir tedavisi bulunamam\u0131\u015ft\u0131r.Ve d\u00fcnyan\u0131n,Krali\u00e7e Viktorya\u2019n\u0131n\u201dbildiklerimin en k\u00f6t\u00fcs\u00fc\u201dolarak adland\u0131rd\u0131\u011f\u0131 bu hastal\u0131ktan kurtulmas\u0131 i\u00e7in epey zamana ihtiyac\u0131 vard\u0131r.<\/p>\n
– ALB\u0130N\u0130Z\u0130M<\/p>\n
Alginizim \u00e7ekinik bir genin yol a\u00e7mas\u0131 sebebiyle (do\u011fal \u00e7ekimin i\u015fe kar\u0131\u015fmad\u0131 d\u00fc\u015f\u00fcn\u00fcld\u00fc\u011f\u00fcnde),d\u00f6rtte birimizin albino olmas\u0131 gerekirdi.Oysaki albinizim \u00e7ok daha az oranda ,fakat b\u00fct\u00fcn \u0131rklarda g\u00f6r\u00fclmektedir.Bir kusur olarak adland\u0131r\u0131labilir,\u00e7\u00fcnk\u00fc pigment yoklu\u011fu g\u00f6zlerin zay\u0131f ve astigmat olmas\u0131na,g\u00fcne\u015fe tahamm\u00fcl edilmemesine yol a\u00e7maktad\u0131r.Ayr\u0131ca,her ne kadar Avrupal\u0131 albinolar sar\u0131\u015f\u0131n ve a\u00e7\u0131k tenli ki\u015filer aras\u0131nda fazla g\u00f6ze batmadan dola\u015fa biniyorsalar da durum zenciler,Japonlar ve k\u0131z\u0131l dereliler i\u00e7in ayn\u0131 de\u011fildir.Bildirilen oran, Avrupa i\u00e7in a\u015fa\u011f\u0131 yukar\u0131 yirmi binde birdir.Ortalama olarak \u0130ngiltere\u2019de2500 ABD \u2018de 9000 albino vard\u0131r.Koyu renkli toplumlarda albinizim daha yayg\u0131nd\u0131r.Nijerya da oran 3000\u2032de birdir ve herhangi bir \u015fehirde kolayl\u0131kla se\u00e7ilmektedir .Panamadaki bir k\u0131z\u0131l dereli gurubunda (SanBlas)oran 132\u2032de birdir.\u00c7ekinik albino geni Avrupal\u0131larda 70\u2032de bir oran\u0131nda bulunmaktad\u0131r.Bir \u00e7ocu\u011fun albino olmas\u0131 i\u00e7in ta\u015f\u0131y\u0131c\u0131(heterozigot)kimsenin bir ba\u015fka ta\u015f\u0131y\u0131c\u0131yla e\u015fle\u015fmesi gerekir. Hem ana hem de baban\u0131n albino oldu\u011fu durumlarda \u00e7ocuklar kesin albino olur. Ana baban\u0131n birini albino olmas\u0131 sonucunda \u00e7ocuk 70\u2032te birimiz oranda ta\u015f\u0131y\u0131c\u0131 olur ve g\u00f6r\u00fcn\u00fc\u015f\u00fc normaldir.Ana babadan birini ta\u015f\u0131y\u0131c\u0131 olup olmad\u0131\u011f\u0131 ancak albino bir \u00e7ocu\u011fun do\u011fumuyla anla\u015f\u0131labilir.Bir ailede daha \u00f6nceden albino \u00e7ocuk g\u00f6r\u00fclm\u00fc\u015fse,bir ba\u015fka \u00e7ocuk g\u00f6r\u00fclme \u015fans\u0131 4\u2032te bir oran\u0131ndad\u0131r.Sonu\u00e7 olarak da albinolar\u0131n iki renkli olabilece\u011fini ve melanin (sa\u00e7 ve deri dokucular\u0131ndaki renk maddesi)eksikli\u011finin b\u00fcy\u00fck bir olas\u0131l\u0131kla tirozinaz enziminin yoklu\u011fundan ileri geldi\u011fi d\u00fc\u015f\u00fcn\u00fclmektedir.Bu enzim,tiroksinin melaline d\u00f6n\u00fc\u015ft\u00fc\u011f\u00fc ilk evrede kataliz\u00f6r rol\u00fcn\u00fc oynamaktad\u0131r.G\u00f6z\u00fcn pembe olu\u015fu pigment renginde de\u011fil pigment yoklu\u011fu nedeniyle kan\u0131n k\u0131rm\u0131z\u0131 renginin g\u00f6r\u00fclebilir olmas\u0131ndan ileri gelmektedir. <\/p>\n
– HABSBURG DUDA\u011eI<\/p>\n
D\u00fcnyada binlerce burun,al\u0131n,\u00e7ene \u015fekli bir baba o\u011flun, bir ana o\u011flun ,bir babak\u0131z\u0131nkinin \u00e7ok benzer olu\u015fu dikkate de\u011fer.Bu bi\u00e7imlerin tarifi \u00e7ok g\u00fc\u00e7 fakat m\u00fc\u015fahedesi kolayd\u0131r.Baskerville ailesini sorguya \u00e7ekerken,Sherloch Holmesportresini g\u00f6rd\u00fc\u011f\u00fc bir ata ile torunu aras\u0131ndaki benzerli\u011fe hayret etmi\u015fti.Sonrada,hayalinde sakallar\u0131n\u0131 kaz\u0131yarak ,ailenin kendini gizli tutan bir ferdini ortaya \u00e7\u0131karm\u0131\u015ft\u0131.Bu t\u00fcr bask\u0131n bir aile karakteristi\u011fi, portrelerini yapt\u0131rmak i\u00e7in yeterince zengin ve as\u0131rlar boyu h\u00fck\u00fcm s\u00fcrecek kadar kudretli olan HABSBURG s\u00fclalesinde g\u00f6r\u00fcl\u00fcr.HABSBURG duda\u011f\u0131 her halde tek bir gene ba\u011fl\u0131d\u0131r.\u00d6ne do\u011fru bir \u00e7\u0131k\u0131nt\u0131 yapan \u00e7irkin altduda\u011fa ,dar bir \u00e7ene ve \u00e7o\u011fu zaman hafif a\u00e7\u0131k bir a\u011f\u0131z e\u015flik eder.\u0130yi bir \u015fan solarak,hi\u00e7bir grav\u00fcrc\u00fc ve ressam ,zaman\u0131m\u0131zda da bu a\u011f\u0131z \u015feklini g\u00fczelle\u015ftirme gitmemi\u015ftir. Bu duda\u011fa sahip tarihi ki\u015filer aras\u0131nda imparator I.Maximilian(XV.y\u00fczy\u0131lda do\u011fan ), imparator V.Charles (XVI.y\u00fczy\u0131l),ar\u015fid\u00fck Albrecht ve \u0130spanyaKral\u0131 XII.Alfonso vard\u0131r.Bu ender de\u011fi\u015fken,bir ailede d\u00f6n\u00fcp dola\u015ft\u0131\u011f\u0131na ve sadece kusura sahip ki\u015filer taraf\u0131ndan ge\u00e7irildi\u011fine g\u00f6re ,tek bir bask\u0131n genin esiri olsa gerektir. Kal\u0131t\u0131mla ge\u00e7me \u015fans\u0131 50:50 olan bu kusura sahip ki\u015filerin, \u00e7ocuklar\u0131na da ge\u00e7irme \u015fans\u0131 ayn\u0131 orandad\u0131r.Pek \u00e7o\u011fumuzda HABSBURG duda\u011f\u0131na benzer bir \u015fey yoktur,fakat dille ilgili garip bir yetenek vard\u0131r.Baz\u0131 kimseler dillerini iki yandan ve yukar\u0131 do\u011fru U \u015feklinde k\u0131v\u0131rabilirler,baz\u0131lar\u0131 k\u0131v\u0131ramaz.Fakat son derece belirgindir.Bu karakteristi\u011fin geneti\u011fi \u00fczerinde fazla \u00e7al\u0131\u015f\u0131lmam\u0131\u015ft\u0131r ve her ne kadar daha uza\u011fa t\u00fck\u00fcrebilmeyi sa\u011fl\u0131yorsa da,dili bu \u015fekilde hareket ettirmenin ne i\u015fe yarad\u0131\u011f\u0131 bilinmemektedir.<\/p>\n
– RENK K\u00d6RL\u00dc\u011e\u00dc<\/p>\n
Genetik kal\u0131t\u0131mla ge\u00e7en bir ba\u015fka anomalidir. Tam bir renk k\u00f6rl\u00fc\u011f\u00fc enderdir. Sebep olan gen \u00e7ekiniktir ve her iki cins de etkiler. K\u0131smi olan renk k\u00f6rl\u00fc\u011f\u00fc otuz ki\u015fide birini etkiler. Cinsiyet genleriyle ili\u015fkilidir ve kad\u0131ndan \u00e7ok erkelerde yayg\u0131nd\u0131r. B\u00fct\u00fcn istisnalar\u0131 bir kenara iten temel kurallar vard\u0131r. Normal bir kad\u0131n renk k\u00f6r\u00fc bir erkekle evlendi\u011finde \u00e7ocuklar\u0131n\u0131n normal olmas\u0131 beklenir. Normal bir erkek renk k\u00f6r\u00fc bir kad\u0131nla evlendi\u011finde erkek \u00e7ocuklar renk k\u00f6r\u00fc, k\u0131z \u00e7ocuklar normal olacakt\u0131r. \u0130lk durumun bir ku\u015fak sonras\u0131 ele al\u0131nd\u0131\u011f\u0131nda bu evlili\u011fin normal k\u0131zlar\u0131, babalar\u0131n\u0131n renkk\u00f6rl\u00fc\u011f\u00fcn\u00fcn ta\u015f\u0131y\u0131c\u0131lar\u0131 olacakt\u0131r. Dolay\u0131s\u0131yla o\u011fullar\u0131n\u0131n yar\u0131s\u0131 renk k\u00f6r\u00fc, yar\u0131s\u0131 normalce k\u0131zlar\u0131n\u0131n yar\u0131s\u0131 da kendileri gibi ta\u015f\u0131y\u0131c\u0131 olacakt\u0131r. Ta\u015f\u0131y\u0131c\u0131 k\u0131zlar renk k\u00f6r\u00fc erkeklerle evlendi\u011finde durum daha k\u00f6t\u00fc olacakt\u0131r. O\u011fullar\u0131n\u0131n yar\u0131s\u0131 renk k\u00f6r\u00fc ve k\u0131zlar\u0131n\u0131n yar\u0131s\u0131 ta\u015f\u0131y\u0131c\u0131 olacak, buna kar\u015f\u0131 k\u0131zlar\u0131n geri kalan y\u00fczde ellisi renk k\u00f6r\u00fc olacakt\u0131r. Nihayet renk k\u00f6r\u00fc bir kad\u0131n renk k\u00f6r\u00fc bir erkekle evlendi\u011finde b\u00fct\u00fcn \u00e7ocuklar\u0131 renk k\u00f6r\u00fc olacakt\u0131r.Hemofilde de oldu\u011fu gibi b\u00fct\u00fcn bunlar X kromozomuna ba\u011fl\u0131d\u0131r. Erkek \u00e7ocuk tek Kromozomunu annesinden al\u0131r. K\u0131z\u0131n iki X kromozomu vard\u0131r ve birinin anas\u0131ndan,\u00f6b\u00fcr\u00fcn\u00fc babas\u0131ndan al\u0131r. Babas\u0131 renk k\u00f6r\u00fc oldu\u011funda bir k\u0131z \u00e7ocu\u011fu onun kusuru X kromozomunu alacak, fakat annesinden de sa\u011flam bir X kromozomsalm\u0131\u015f olacakt\u0131r. Biri sa\u011flam biri kusurlu X kromozomlar\u0131n\u0131n sonucu normal g\u00f6r\u00fc\u015f, fakat ta\u015f\u0131y\u0131c\u0131l\u0131kt\u0131r. O\u011fullar\u0131n\u0131n yar\u0131s\u0131 kusurlu X kromozomunu, yar\u0131s\u0131 sa\u011flam olacak,b\u00f6ylece yar\u0131s\u0131 renk k\u00f6r\u00fc yar\u0131s\u0131 normal olacakt\u0131r. Birka\u00e7 istisna d\u0131\u015f\u0131nda renk k\u00f6rl\u00fc\u011f\u00fc kal\u0131t\u0131m\u0131n\u0131n *****izmas\u0131 budur.Renk k\u00f6rl\u00fc\u011f\u00fcn\u00fcn g\u00f6r\u00fcl\u00fc\u015f oran\u0131 \u0131rklara g\u00f6re de\u011fi\u015fir. Avrupal\u0131larda \u00e7ok s\u0131k g\u00f6r\u00fclmesine kar\u015f\u0131l\u0131k, \u00f6rne\u011fin Eskimo ve Avustralya yerlilerinde enderdir. Yine do\u011fal se\u00e7imin i\u015fe kar\u0131\u015farak, daha ilkel toplumlarda renk k\u00f6rlerinin ya\u015famas\u0131n\u0131 g\u00fc\u00e7le\u015ftirdi\u011fi varsay\u0131l\u0131r.Avrupa\u2019da erkeklerin %7 \u2018si ve kad\u0131nlar\u0131n %0,5 \u2018i ya renk k\u00f6r\u00fc ya da renk g\u00f6r\u00fc\u015fleri zay\u0131f olan ki\u015filerdir. Bir b\u00fct\u00fcn olarak renk k\u00f6rl\u00fc\u011f\u00fcn\u00fcn daha az oldu\u011fu toplumlarda,kad\u0131nlardaki renk k\u00f6rl\u00fc\u011f\u00fc oran\u0131 erkeklerinkinin \u00e7ok ufak bir kesridir.B\u00fct\u00fcn bunlara ek olarak da, hem hemofili hem de renk k\u00f6rl\u00fc\u011f\u00fcn\u00fc Y \u2018ye de\u011fil de Kromozomuna ba\u011fl\u0131 olu\u015fan bir tesad\u00fcf sonucu olmad\u0131\u011f\u0131n\u0131 s\u00f6yleyebiliriz. Bu ikisi gibi cinsiyete ba\u011fl\u0131 hemen b\u00fct\u00fcn \u00f6zelikler X kromozomuna ba\u011fl\u0131d\u0131r. Sebep a\u00e7\u0131kt\u0131r:X Kromozomu geni\u015ftir ve genler i\u00e7in yer boldur. Erkeklere \u00f6zg\u00fc Y kromozomu ise daha k\u00fc\u00e7\u00fckt\u00fcr. Erkeklik d\u0131\u015f\u0131nda Y kromozomuna ba\u011fl\u0131 tel \u00f6zellik vard\u0131r, bu da t\u00fcyl\u00fc kulak u\u00e7lar\u0131d\u0131r. Genlerin karma\u015f\u0131k d\u00fcnyas\u0131n\u0131n bir kromozom \u00fczerinde b\u00f6ylesine konularda belirlenmi\u015f olmas\u0131 tuhaf g\u00f6r\u00fclebilir.<\/p>\n","protected":false},"excerpt":{"rendered":"
KALITIM Canl\u0131lar aras\u0131ndaki benzerlik ve farkl\u0131l\u0131klar\u0131n, ortaya \u00e7\u0131kmas\u0131n\u0131 sa\u011flayan, bunlar\u0131n anne babadan \u00e7ocu\u011fa nas\u0131l ge\u00e7ti\u011fini, kal\u0131tsal hastal\u0131klar\u0131 ve tedavileri inceleyen bilim dal\u0131d\u0131r.Ayn\u0131 t\u00fcr canl\u0131lar kendi aralar\u0131nda g\u00f6r\u00fcn\u00fc\u015f olarak farkl\u0131l\u0131k g\u00f6sterirler(sa\u00e7 rengi, g\u00f6z rengi vb. ).Kal\u0131t\u0131m\u0131n di\u011fer bir ad\u0131 da soya\u00e7ekimdir. B\u00fct\u00fcn canl\u0131larda g\u00f6r\u00fcl\u00fcr. KALITSAL HASTALIKLAR Genlerle yavrulara ge\u00e7en \u00f6zelliklere kal\u0131tsal \u00f6zellikler denir (kan grubu, g\u00f6z …<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1407,1403],"tags":[8421,8423,2464,2599,2506,8422,5872,8420,4501,5871,5870],"class_list":["post-3687","post","type-post","status-publish","format-standard","hentry","category-fen-ve-teknoloji-odevleri","category-odevler","tag-an-grubu","tag-cok-parmaklilik","tag-deoksiribonukleik-asit","tag-genetik","tag-genler","tag-goz-rengi","tag-hemofili","tag-kalitim-ve-kalitsal-hastaliklar","tag-pigment","tag-renk-korlugu","tag-x-kromozomu"],"_links":{"self":[{"href":"https:\/\/www.islamidavet.com\/kutuphane\/wp-json\/wp\/v2\/posts\/3687","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.islamidavet.com\/kutuphane\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.islamidavet.com\/kutuphane\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.islamidavet.com\/kutuphane\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.islamidavet.com\/kutuphane\/wp-json\/wp\/v2\/comments?post=3687"}],"version-history":[{"count":0,"href":"https:\/\/www.islamidavet.com\/kutuphane\/wp-json\/wp\/v2\/posts\/3687\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.islamidavet.com\/kutuphane\/wp-json\/wp\/v2\/media?parent=3687"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.islamidavet.com\/kutuphane\/wp-json\/wp\/v2\/categories?post=3687"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.islamidavet.com\/kutuphane\/wp-json\/wp\/v2\/tags?post=3687"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}