{"id":3004,"date":"2026-09-02T09:22:33","date_gmt":"2026-09-02T06:22:33","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=3004"},"modified":"2026-07-28T11:23:39","modified_gmt":"2026-07-28T08:23:39","slug":"what-is-exon-deletion-in-duchenne-muscular-dystrophy-dmd","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/tr\/what-is-exon-deletion-in-duchenne-muscular-dystrophy-dmd\/","title":{"rendered":"Ekzon Delesyonu Nedir? Duchenne Kas Distrofisinde Ekzon Silinmelerini Anlamak"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>Ekzon delesyonu nedir ve Duchenne kas distrofisinde neden \u00f6nemlidir? <\/strong>Ekzon delesyonu, bir genin bir veya daha fazla b\u00f6l\u00fcm\u00fcn\u00fcn eksik olmas\u0131 durumunda meydana gelir ve bu durum v\u00fccudun temel bir proteini \u00fcretme \u015feklini potansiyel olarak etkiler. DMD&#039;de bu delesyonlar, distrofin \u00fcretimi i\u00e7in talimatlar\u0131 i\u00e7eren DMD geninde meydana gelir. Tam ekzon delesyonunu anlamak, ailelerin genetik test sonu\u00e7lar\u0131n\u0131, potansiyel tedavi yakla\u015f\u0131mlar\u0131n\u0131 ve mutasyonun ne anlama gelebilece\u011fini daha iyi anlamalar\u0131na yard\u0131mc\u0131 olabilir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ekzon delesyonu, bir veya daha fazla ekzonun (bir genin protein yap\u0131m\u0131na ili\u015fkin talimatlar\u0131 i\u00e7eren b\u00f6l\u00fcmleri) DNA'dan eksik oldu\u011fu genetik bir de\u011fi\u015fikliktir. <strong>Duchenne kas distrofisinde, ekzon delesyonlar\u0131 genellikle sa\u011fl\u0131kl\u0131 kas fonksiyonu i\u00e7in gerekli bir protein olan distrofinin \u00fcretimi i\u00e7in talimatlar sa\u011flayan DMD genini etkiler.<\/strong> Devam\u0131n\u0131 oku: <a href=\"https:\/\/dmdwarrior.com\/tr\/dystrophin-gene\/\" target=\"_blank\" rel=\"noreferrer noopener\">DMD Geni<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Silinen spesifik ekzonlar\u0131 anlamak son derece \u00f6nemlidir \u00e7\u00fcnk\u00fc delesyonun yeri ve boyutu, genetik talimatlar\u0131n nas\u0131l okundu\u011funu ve baz\u0131 durumlarda bireyin mutasyona \u00f6zg\u00fc bir tedavi yakla\u015f\u0131m\u0131na uygun olup olmad\u0131\u011f\u0131n\u0131 etkileyebilir. Daha Fazlas\u0131n\u0131 Okuyun: <a href=\"https:\/\/dmdwarrior.com\/tr\/what-is-duchenne\/\" target=\"_blank\" rel=\"noreferrer noopener\">Duchenne Nedir?<\/a><\/p>\n\n\n\n<div class=\"wp-block-rank-math-toc-block\" id=\"rank-math-toc\"><h2>\u0130\u00e7indekiler<\/h2><nav><ul><li><a href=\"#what-is-an-exon\">Ekzon Nedir?<\/a><ul><li><a href=\"#what-happens-when-an-exon-is-missing\">Ekzon Eksik Oldu\u011funda Ne Olur?<\/a><\/li><li><a href=\"#what-does-exon-deletion-mean-in-dmd\">Duchenne Kas Distrofisinde Ekzon Delesyonu Nedir?<\/a><\/li><li><a href=\"#why-does-the-location-of-the-deletion-matter\">Delesyon Yeri Neden \u00d6nemlidir?<\/a><\/li><\/ul><\/li><li><a href=\"#what-is-the-dmd-gene-and-why-is-it-important\">DMD Geni Nedir ve Neden \u00d6nemlidir?<\/a><ul><li><a href=\"#how-does-an-exon-deletion-affect-dystrophin\">Ekzon Silinmesi Distrofini Nas\u0131l Etkiler?<\/a><\/li><\/ul><\/li><li><a href=\"#how-are-exon-deletions-detected\">Ekzon Delesyonlar\u0131 Nas\u0131l Tespit Edilir?<\/a><ul><li><a href=\"#what-does-a-genetic-test-result-look-like\">Genetik test sonucu nas\u0131l g\u00f6r\u00fcn\u00fcr?<\/a><\/li><\/ul><\/li><li><a href=\"#exon-deletion-vs-exon-duplication\">Ekzon Silinmesi ve Ekzon Kopyalanmas\u0131<\/a><\/li><li><a href=\"#what-is-the-connection-between-exon-deletion-and-exon-skipping\">Ekzon Silinmesi ve Ekzon Atlamas\u0131 Aras\u0131ndaki Ba\u011flant\u0131 Nedir?<\/a><ul><li><a href=\"#can-exon-skipping-correct-every-exon-deletion\">Ekzon Atlamas\u0131 Her Ekzon Silinmesini D\u00fczeltebilir mi?<\/a><\/li><\/ul><\/li><li><a href=\"#does-an-exon-deletion-mean-a-child-has-duchenne\">Ekzon Delesyonu \u00c7ocu\u011fun Duchenne Kas Distrofisi Oldu\u011fu Anlam\u0131na m\u0131 Gelir?<\/a><\/li><li><a href=\"#why-knowing-the-exact-exon-deletion-matters\">Ekzon Silinmesinin Tam Olarak Bilinmesinin \u00d6nemi<\/a><\/li><li><a href=\"#frequently-asked-questions-about-exon-deletion\">Ekzon Silinmesi Hakk\u0131nda S\u0131k\u00e7a Sorulan Sorular<\/a><ul><li><a href=\"#faq-question-1788263163433\">Ekzon silinmesi ile gen silinmesi ayn\u0131 \u015fey midir?<\/a><\/li><li><a href=\"#faq-question-1788263188487\">Ekzon delesyonu kal\u0131tsal m\u0131d\u0131r?<\/a><\/li><li><a href=\"#faq-question-1788263198271\">Ekzon delesyonu DMD'ye neden olabilir mi?<\/a><\/li><li><a href=\"#faq-question-1788263207327\">Ekzon delesyonu tedavi edilebilir mi?<\/a><\/li><li><a href=\"#faq-question-1788263216749\">\u00c7ocu\u011fumun ekzon delesyonunu nerede bulabilirim?<\/a><\/li><\/ul><\/li><li><a href=\"#conclusion\">Sonu\u00e7<\/a><\/li><li><a href=\"#academic-sources-references\">Akademik Kaynaklar ve Referanslar<\/a><\/li><\/ul><\/nav><\/div>\n\n\n\n<h2 id=\"what-is-an-exon\" class=\"wp-block-heading\">Ekzon Nedir?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Ekzon, RNA i\u015flenmesinden sonra olgun haberci RNA'da (mRNA) kalan ve protein \u00fcretimi i\u00e7in kullan\u0131lan talimatlara katk\u0131da bulunan bir gen segmentidir.<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"435\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-1024x435.jpg\" alt=\"dmd gen ekzon say\u0131s\u0131\" class=\"wp-image-1439\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-1024x435.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-300x128.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-768x326.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-1536x653.jpg 1536w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-18x8.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons.jpg 2000w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Bir geni, numaraland\u0131r\u0131lm\u0131\u015f b\u00f6l\u00fcmlere ayr\u0131lm\u0131\u015f uzun bir kullan\u0131m k\u0131lavuzu olarak d\u00fc\u015f\u00fcnebilirsiniz. <strong>DMD geni, distrofin \u00fcretimini sa\u011flayan talimatlar\u0131 birlikte veren 79 ekzondan olu\u015fur.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Distrofin, kas kas\u0131lmas\u0131 s\u0131ras\u0131nda kas liflerini stabilize etmeye yard\u0131mc\u0131 olur. DMD genindeki mutasyonlar v\u00fccudun yeterli i\u015flevsel distrofin \u00fcretmesini engelledi\u011finde, kas h\u00fccreleri hasara kar\u015f\u0131 giderek daha savunmas\u0131z hale gelir.<\/p>\n\n\n\n<h3 id=\"what-happens-when-an-exon-is-missing\" class=\"wp-block-heading\">Ekzon Eksik Oldu\u011funda Ne Olur?<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Bir ekzon, genetik mutasyon nedeniyle tamamen veya k\u0131smen silinebilir. DMD geninden bir veya daha fazla ekzon eksik oldu\u011funda, geriye kalan genetik dizi art\u0131k do\u011fru \u015fekilde okunamayabilir.<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"435\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-1024x435.jpg\" alt=\"\" class=\"wp-image-1451\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-1024x435.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-300x128.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-768x326.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-1536x653.jpg 1536w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-18x8.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1.jpg 2000w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\">Bu \u00f6rnekte, ekzon 43'\u00fcn silindi\u011fi varsay\u0131lmaktad\u0131r. Ekzon 43'\u00fcn silinmesiyle, ekzon 42 ve 44'\u00fcn birbirine ba\u011flanamayaca\u011f\u0131n\u0131 g\u00f6rebilirsiniz.<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>En \u00f6nemli soru, bu silme i\u015fleminin okuma \u00e7er\u00e7evesini bozup bozmad\u0131\u011f\u0131d\u0131r.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bu nedenle, bir ekzonun silindi\u011fini bilmek, klinik \u00f6nemini anlamak i\u00e7in her zaman yeterli de\u011fildir. Ekzon 45 silinmesi veya ekzon 46-50 silinmesi gibi kesin silinme t\u00fcr\u00fc dikkate al\u0131nmal\u0131d\u0131r. Daha Fazla Bilgi Edinin: <a href=\"https:\/\/dmdwarrior.com\/duchenne-exon-deletion-tool\/exon-46-50-deletion\/\" target=\"_blank\" rel=\"noreferrer noopener\">DMD Ekzon 46-50 Silinmesi<\/a><\/p>\n\n\n\n<h3 id=\"what-does-exon-deletion-mean-in-dmd\" class=\"wp-block-heading\">Duchenne Kas Distrofisinde Ekzon Delesyonu Nedir?<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Duchenne kas distrofisinde ekzon delesyonu, DMD geninde bir veya daha fazla ekzonun eksik oldu\u011fu bir mutasyondur.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">DMD, X kromozomundaki DMD genindeki patojenik varyantlardan kaynaklan\u0131r. Bir veya daha fazla ekzonun silinmesi, en yayg\u0131n DMD mutasyon t\u00fcrleri aras\u0131ndad\u0131r.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"91\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-1024x91.jpg\" alt=\"\" class=\"wp-image-1447\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-1024x91.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-300x27.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-768x68.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-1536x137.jpg 1536w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-18x2.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44.jpg 1897w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u00d6rne\u011fin, bir genetik test \u015fu sonu\u00e7lar\u0131 verebilir:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Ekzon 45 delesyonu<\/strong><\/li>\n\n\n\n<li><strong>45-47 ekzon delesyonu<\/strong><\/li>\n\n\n\n<li><strong>45-50 ekzon delesyonu<\/strong><\/li>\n\n\n\n<li><strong>51-52 ekzon delesyonu<\/strong><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Bu sonu\u00e7lar, DMD geninin hangi k\u0131s\u0131mlar\u0131n\u0131n eksik oldu\u011funu a\u00e7\u0131klamaktad\u0131r.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ekzon delesyonu, distrofin genindeki bir veya daha fazla ekzonun kaybolmas\u0131 ve distrofin proteininin daha k\u0131sa veya eksik bir versiyonuna yol a\u00e7mas\u0131 s\u00fcrecini ifade eder. Bunun ger\u00e7ekle\u015fmesinin birka\u00e7 yolu vard\u0131r; bunlar aras\u0131nda genin t\u00fcm b\u00f6l\u00fcmlerinin kayboldu\u011fu b\u00fcy\u00fck delesyonlar veya yaln\u0131zca tek bir ekzonun veya birka\u00e7 ekzonun \u00e7\u0131kar\u0131ld\u0131\u011f\u0131 daha k\u00fc\u00e7\u00fck delesyonlar bulunur.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"91\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1024x91.jpg\" alt=\"\" class=\"wp-image-1450\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1024x91.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-300x27.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-768x68.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1536x137.jpg 1536w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-18x2.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion.jpg 1897w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Distrofin genindeki ekzonlar silindi\u011finde, gen taraf\u0131ndan \u00fcretilen mRNA anormal olacakt\u0131r. Bu anormal mRNA, kesilmi\u015f bir distrofin proteinine veya distrofinin tamamen yoklu\u011funa yol a\u00e7acakt\u0131r. Distrofin, uygun kas fonksiyonu i\u00e7in gerekli oldu\u011fundan, yoklu\u011fu DMD hastalar\u0131nda g\u00f6r\u00fclen ilerleyici kas zay\u0131fl\u0131\u011f\u0131na ve dejenerasyona neden olur.<\/p>\n\n\n\n<h3 id=\"why-does-the-location-of-the-deletion-matter\" class=\"wp-block-heading\">Delesyon Yeri Neden \u00d6nemlidir?<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Ekzon silinmesinin konumu, kalan ekzonlar\u0131n nas\u0131l ba\u011flanaca\u011f\u0131n\u0131 ve genetik okuma \u00e7er\u00e7evesinin korunup korunmayaca\u011f\u0131n\u0131 etkileyebilir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bu ayr\u0131m genellikle \u015fu \u015fekilde tan\u0131mlan\u0131r:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u00c7er\u00e7eve i\u00e7i silme:<\/strong> Okuma \u00e7er\u00e7evesi sa\u011flaml\u0131\u011f\u0131n\u0131 korur.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u00c7er\u00e7eve d\u0131\u015f\u0131 silme:<\/strong> Okuma \u00e7er\u00e7evesi bozulmu\u015ftur.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Genetik test k\u0131lavuzlar\u0131, Duchenne Musk\u00fcler Distrofisi (DMD) ve Becker Musk\u00fcler Distrofisi (BMD) varyantlar\u0131n\u0131 yorumlarken okuma \u00e7er\u00e7evesinin \u00f6nemini kabul etmektedir. Genel olarak, \u00e7er\u00e7eve d\u0131\u015f\u0131 delesyonlar DMD fenotipiyle daha g\u00fc\u00e7l\u00fc bir \u015fekilde ili\u015fkilendirilirken, \u00e7er\u00e7eve i\u00e7i delesyonlar daha s\u0131kl\u0131kla daha hafif BMD fenotipiyle ili\u015fkilendirilir. Bununla birlikte, bu her birey i\u00e7in mutlak bir tahmin olmaktan ziyade genel bir kurald\u0131r. Daha Fazlas\u0131n\u0131 Okuyun: <a href=\"https:\/\/dmdwarrior.com\/tr\/differences-between-dmd-and-bmd\/\" target=\"_blank\" rel=\"noreferrer noopener\">Duchenne ve Becker<\/a><\/p>\n\n\n\n<h2 id=\"what-is-the-dmd-gene-and-why-is-it-important\" class=\"wp-block-heading\">DMD Geni Nedir ve Neden \u00d6nemlidir?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>DMD geni, distrofin i\u00e7in genetik talimatlar\u0131 i\u00e7erir.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Distrofin, kas liflerini tekrarlanan kas\u0131lmalar\u0131n neden oldu\u011fu hasardan korumaya yard\u0131mc\u0131 olan yap\u0131sal bir proteindir. Distrofin yoklu\u011funda veya \u00f6nemli \u00f6l\u00e7\u00fcde azalmas\u0131nda, kas lifleri giderek daha fazla hasar g\u00f6r\u00fcr.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">DMD geni son derece b\u00fcy\u00fckt\u00fcr ve 79 ekzon i\u00e7erir. Boyutu, DMD&#039;de g\u00f6zlemlenen mutasyonlar\u0131n nispeten y\u00fcksek s\u0131kl\u0131\u011f\u0131na ve \u00e7e\u015fitlili\u011fine katk\u0131da bulunur. \u00d6zellikle delesyon mutasyonlar\u0131 yayg\u0131nd\u0131r ve delesyon s\u0131cak noktalar\u0131 2-20 ve 45-55 ekzonlar\u0131n\u0131 i\u00e7eren b\u00f6lgelerde bildirilmi\u015ftir.<\/p>\n\n\n\n<h3 id=\"how-does-an-exon-deletion-affect-dystrophin\" class=\"wp-block-heading\">Ekzon Silinmesi Distrofini Nas\u0131l Etkiler?<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Bir silinme okuma \u00e7er\u00e7evesini bozdu\u011funda, h\u00fccresel mekanizma kalan genetik talimatlar\u0131 do\u011fru \u015fekilde yorumlayamayabilir.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"576\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-1024x576.jpg\" alt=\"DMD genindeki ekson delesyonu, eksik bir eksonu ve bunun distrofin ve kas \u00fczerindeki etkisini g\u00f6stermektedir.\" class=\"wp-image-8633\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-1024x576.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-300x169.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-768x432.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-1536x864.jpg 1536w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-18x10.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-746x420.jpg 746w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-150x84.jpg 150w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-696x392.jpg 696w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-1068x601.jpg 1068w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion.jpg 1672w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\">Ekzon delesyonu nedir? Bu g\u00f6rsel, DMD genindeki eksik bir ekzonun distrofin \u00fcretimi ve kas fonksiyonunu nas\u0131l etkileyebilece\u011fini g\u00f6stermektedir.<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Bu durum, i\u015flevsel distrofinin \u00e7ok az miktarda veya hi\u00e7 \u00fcretilmemesine yol a\u00e7abilir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Buna kar\u015f\u0131l\u0131k, baz\u0131 delesyonlar okuma \u00e7er\u00e7evesini korur ve baz\u0131 i\u015flevlerini koruyan daha k\u0131sa bir distrofin proteininin \u00fcretilmesine olanak sa\u011flayabilir. Bu farkl\u0131l\u0131k, farkl\u0131 DMD delesyonlar\u0131na sahip iki ki\u015finin farkl\u0131 klinik belirtiler g\u00f6stermesinin nedenlerinden biridir.<\/p>\n\n\n\n<h2 id=\"how-are-exon-deletions-detected\" class=\"wp-block-heading\">Ekzon Delesyonlar\u0131 Nas\u0131l Tespit Edilir?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Ekzon delesyonu genetik test yoluyla tespit edilir.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">DMD veya BMD \u015f\u00fcphesi olan bir ki\u015fi i\u00e7in molek\u00fcler genetik test, DMD geninin silinme, kopyalama veya daha k\u00fc\u00e7\u00fck dizi varyantlar\u0131 i\u00e7erip i\u00e7ermedi\u011fini belirleyebilir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Silme ve kopyalama analizleri \u00f6zellikle \u00f6nemlidir \u00e7\u00fcnk\u00fc bu daha b\u00fcy\u00fck genetik de\u011fi\u015fiklikler DMD mutasyonlar\u0131n\u0131n \u00f6nemli bir b\u00f6l\u00fcm\u00fcn\u00fc olu\u015fturmaktad\u0131r.<\/p>\n\n\n\n<h3 id=\"what-does-a-genetic-test-result-look-like\" class=\"wp-block-heading\">Genetik test sonucu nas\u0131l g\u00f6r\u00fcn\u00fcr?<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Bir raporda \u015funa benzer bir ifade yer alabilir:<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p class=\"wp-block-paragraph\">DMD geni: 45-50. Ekzon Delesyonu<\/p>\n<\/blockquote>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Bu, ki\u015finin &quot;alt\u0131 genini kaybetti\u011fi&quot; anlam\u0131na gelmez. Bu, ayn\u0131 DMD geni i\u00e7indeki alt\u0131 numaral\u0131 ekzon b\u00f6lgesinin eksik oldu\u011fu anlam\u0131na gelir.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Kesin sonu\u00e7, yetkili bir genetik\u00e7i, n\u00f6rolog, genetik dan\u0131\u015fman veya di\u011fer uygun sa\u011fl\u0131k uzman\u0131 taraf\u0131ndan yorumlanmal\u0131d\u0131r. Daha fazla bilgi i\u00e7in: <a href=\"https:\/\/dmdwarrior.com\/tr\/dmd-genetic-testing\/\" target=\"_blank\" rel=\"noreferrer noopener\">DMD Genetik Testi<\/a><\/p>\n\n\n\n<h2 id=\"exon-deletion-vs-exon-duplication\" class=\"wp-block-heading\">Ekzon Silinmesi ve Ekzon Kopyalanmas\u0131<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Ekzon silinmesi, bir veya daha fazla ekzon b\u00f6lgesinin eksik olmas\u0131 anlam\u0131na gelir.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Ekzon duplikasyonu, bir veya daha fazla ekzon b\u00f6lgesinin ek bir kopyada bulunmas\u0131 anlam\u0131na gelir.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Her ikisi de DMD geninin okuma \u00e7er\u00e7evesini etkileyebilir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u00d6rne\u011fin, bir silme veya kopyalama, DNA bazlar\u0131n\u0131n say\u0131s\u0131n\u0131 protein \u00fcretimi s\u0131ras\u0131nda kullan\u0131lan \u00fc\u00e7 bazl\u0131 okuma d\u00fczenini bozacak \u015fekilde de\u011fi\u015ftirirse, ortaya \u00e7\u0131kan distrofin talimatlar\u0131 anormal hale gelebilir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bu nedenle genetik raporlar yaln\u0131zca ilgili ekzon say\u0131s\u0131na bak\u0131larak yorumlanmamal\u0131d\u0131r. Kesin mutasyon ve bunun okuma \u00e7er\u00e7evesi \u00fczerindeki etkisi \u00f6nemlidir.<\/p>\n\n\n\n<h2 id=\"what-is-the-connection-between-exon-deletion-and-exon-skipping\" class=\"wp-block-heading\">Ekzon Silinmesi ve Ekzon Atlamas\u0131 Aras\u0131ndaki Ba\u011flant\u0131 Nedir?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Ailelerin ekzon delesyonlar\u0131 hakk\u0131nda bilgi edinmelerinin en \u00f6nemli nedenlerinden biri, bu durumun ekzon atlama terapileriyle olan ba\u011flant\u0131s\u0131d\u0131r.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ekzon atlama, DMD haberci RNA's\u0131n\u0131n okuma \u00e7er\u00e7evesini geri kazand\u0131rmaya yard\u0131mc\u0131 olmak i\u00e7in tasarlanm\u0131\u015f, mutasyona \u00f6zg\u00fc bir stratejidir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">DMD genini birbirine ba\u011fl\u0131 vagonlardan olu\u015fan bir tren olarak hayal edin. Birka\u00e7 vagon eksikse, kalan ba\u011flant\u0131lar art\u0131k do\u011fru \u015fekilde hizalanmayabilir. Ekzon atlama yakla\u015f\u0131m\u0131, kalan dizinin tekrar do\u011fru \u00e7er\u00e7evede okunabilmesi i\u00e7in ek bir ekzonu \u00e7\u0131karmay\u0131 dener. Daha Fazlas\u0131n\u0131 Okuyun: <a href=\"https:\/\/dmdwarrior.com\/tr\/what-is-exon-skipping-and-how-does-it-work\/\" target=\"_blank\" rel=\"noreferrer noopener\">Ekzon Atlama Nedir?<\/a><\/p>\n\n\n\n<h3 id=\"can-exon-skipping-correct-every-exon-deletion\" class=\"wp-block-heading\">Ekzon Atlamas\u0131 Her Ekzon Silinmesini D\u00fczeltebilir mi?<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">HAYIR.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Ekzon atlamas\u0131 mutasyona \u00f6zg\u00fcd\u00fcr.<\/strong> Belirli bir silinmenin giderilip giderilemeyece\u011fi, eksik olan ekzonlar\u0131n tam say\u0131s\u0131na ve ba\u015fka bir ekzonun atlanmas\u0131n\u0131n okuma \u00e7er\u00e7evesini geri kazand\u0131r\u0131p kazand\u0131ramayaca\u011f\u0131na ba\u011fl\u0131d\u0131r.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u00d6rne\u011fin, ara\u015ft\u0131rmalar farkl\u0131 delesyon modellerinin ayn\u0131 ekzonun atlanmas\u0131na uygun olabilece\u011fini, di\u011fer delesyonlar\u0131n ise bu yakla\u015f\u0131mla d\u00fczeltilemeyebilece\u011fini g\u00f6stermi\u015ftir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bu nedenle, aileler bir ekzon delesyonunun otomatik olarak belirli bir ekzon atlama tedavisinin uygun oldu\u011fu anlam\u0131na geldi\u011fini varsaymamal\u0131d\u0131r. Daha fazla bilgi i\u00e7in: <a href=\"https:\/\/dmdwarrior.com\/tr\/next-generation-exon-skipping-therapies-for-duchenne-muscular-dystrophy\/\" target=\"_blank\" rel=\"noreferrer noopener\">Yeni Nesil Ekzon Atlama Terapileri<\/a><\/p>\n\n\n\n<h2 id=\"does-an-exon-deletion-mean-a-child-has-duchenne\" class=\"wp-block-heading\">Ekzon Delesyonu \u00c7ocu\u011fun Duchenne Kas Distrofisi Oldu\u011fu Anlam\u0131na m\u0131 Gelir?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Mutlaka \u00f6yle de\u011fil.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>DMD genindeki bir ekzon delesyonu, spesifik varyanta ve klinik ba\u011flama ba\u011fl\u0131 olarak di\u011fer olas\u0131 yorumlamalar\u0131n yan\u0131 s\u0131ra Duchenne kas distrofisi veya Becker kas distrofisi ile ili\u015fkilendirilebilir.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Okuma \u00e7er\u00e7evesi kural\u0131 kullan\u0131\u015fl\u0131d\u0131r, ancak m\u00fckemmel de\u011fildir. DMD&#039;li bireylerde baz\u0131 \u00e7er\u00e7eve i\u00e7i delesyonlar tespit edilmi\u015ftir ve baz\u0131 \u00f6zel delesyonlar farkl\u0131 klinik fenotiplerle ili\u015fkilendirilebilir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bu nedenle, genetik sonu\u00e7lar her zaman ki\u015finin klinik bulgular\u0131, aile \u00f6yk\u00fcs\u00fc ve di\u011fer ilgili testlerle birlikte de\u011ferlendirilmelidir.<\/p>\n\n\n\n<h2 id=\"why-knowing-the-exact-exon-deletion-matters\" class=\"wp-block-heading\">Ekzon Silinmesinin Tam Olarak Bilinmesinin \u00d6nemi<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">DMD hastal\u0131\u011f\u0131ndan etkilenen bir aile i\u00e7in, kesin genetik mutasyonu bilmek \u00f6nemli bilgiler sa\u011flayabilir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sa\u011fl\u0131k \u00e7al\u0131\u015fanlar\u0131na \u015fu konularda yard\u0131mc\u0131 olabilir:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Molek\u00fcler tan\u0131y\u0131 do\u011frulamak<\/li>\n\n\n\n<li>DMD mutasyonunun t\u00fcr\u00fcn\u00fc anlamak<\/li>\n\n\n\n<li>Silinen k\u0131sm\u0131n \u00e7er\u00e7eve i\u00e7inde mi yoksa \u00e7er\u00e7eve d\u0131\u015f\u0131nda m\u0131 oldu\u011funu belirlemek<\/li>\n\n\n\n<li>Potansiyel genotip-fenotip ili\u015fkilerini de\u011ferlendirmek<\/li>\n\n\n\n<li>Belirli mutasyona \u00f6zg\u00fc tedaviler i\u00e7in uygunlu\u011fu de\u011ferlendirmek<\/li>\n\n\n\n<li>Genetik dan\u0131\u015fmanl\u0131k ve testlerden fayda g\u00f6rebilecek akrabalar\u0131 belirlemek<\/li>\n\n\n\n<li>Uygun aile planlamas\u0131 g\u00f6r\u00fc\u015fmelerini desteklemek<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>En \u00f6nemlisi, &quot;DMD ekzon delesyonu&quot; tek ba\u015f\u0131na eksiksiz bir genetik tan\u0131mlama de\u011fildir.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Tam ekzon veya ekzon aral\u0131\u011f\u0131 \u00f6nemlidir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">45. ekzonun silinmesi, 45-50. ekzonlar\u0131n silinmesinden farkl\u0131d\u0131r. Okuma \u00e7er\u00e7evesi \u00fczerindeki potansiyel etkileri ve tedavi se\u00e7enekleri farkl\u0131l\u0131k g\u00f6sterebilir.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"864\" height=\"1821\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic.jpg\" alt=\"Ekzon delesyonu nedir? DMD gen mutasyonlar\u0131n\u0131 ve eksik ekzonlar\u0131 a\u00e7\u0131klayan infografik.\" class=\"wp-image-8634\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic.jpg 864w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-142x300.jpg 142w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-486x1024.jpg 486w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-768x1619.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-729x1536.jpg 729w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-6x12.jpg 6w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-199x420.jpg 199w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-150x316.jpg 150w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-300x632.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-696x1467.jpg 696w\" sizes=\"(max-width: 864px) 100vw, 864px\" \/><figcaption class=\"wp-element-caption\">Ekzon delesyonu nedir? Bu infografik, DMD genindeki eksik ekzonlar\u0131n distrofin, kas fonksiyonu, tan\u0131 ve tedavi se\u00e7eneklerini nas\u0131l etkileyebilece\u011fini a\u00e7\u0131klamaktad\u0131r.<\/figcaption><\/figure>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 id=\"frequently-asked-questions-about-exon-deletion\" class=\"wp-block-heading\">Ekzon Silinmesi Hakk\u0131nda S\u0131k\u00e7a Sorulan Sorular<\/h2>\n\n\n<div id=\"rank-math-faq\" class=\"rank-math-block\">\n<div class=\"rank-math-list\">\n<div id=\"faq-question-1788263163433\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">Ekzon silinmesi ile gen silinmesi ayn\u0131 \u015fey midir?<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>Hay\u0131r. Ekzon silinmesi genellikle bir gen i\u00e7indeki bir veya daha fazla belirli b\u00f6l\u00fcm\u00fcn kayb\u0131n\u0131 ifade eder. Genin tamam\u0131 mutlaka ortadan kaybolmaz.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1788263188487\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">Ekzon delesyonu kal\u0131tsal m\u0131d\u0131r?<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>Bu durum kal\u0131tsal olabilir, ancak yeni bir mutasyon sonucu da ortaya \u00e7\u0131kabilir. Genetik dan\u0131\u015fmanl\u0131k, belirli bir ailedeki kal\u0131t\u0131m modelini belirlemeye yard\u0131mc\u0131 olabilir.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1788263198271\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">Ekzon delesyonu DMD'ye neden olabilir mi?<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>Evet. DMD genindeki patojenik ekzon delesyonlar\u0131, Duchenne kas distrofisinin ba\u015fl\u0131ca nedenlerinden biridir. Bununla birlikte, kesin etki, delesyona ve bunun distrofin \u00fcretimi \u00fczerindeki sonu\u00e7lar\u0131na ba\u011fl\u0131d\u0131r.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1788263207327\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">Ekzon delesyonu tedavi edilebilir mi?<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>Baz\u0131 spesifik DMD ekzon delesyonlar\u0131, ekzon atlama gibi mutasyona \u00f6zg\u00fc yakla\u015f\u0131mlara uygun olabilir. Bununla birlikte, uygunluk, kesin genetik mutasyona ve d\u00fc\u015f\u00fcn\u00fclen tedaviye ba\u011fl\u0131d\u0131r.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1788263216749\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">\u00c7ocu\u011fumun ekzon delesyonunu nerede bulabilirim?<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>Genetik test raporunda, eksik olan gen b\u00f6lgesinin tam olarak belirtilmesi gerekir. \u00d6rne\u011fin, raporda \"45-50. ekzon delesyonu\" gibi bir ifade yer al\u0131yorsa, bu aral\u0131k eksik ekzon b\u00f6lgelerini tan\u0131mlar.<\/p>\n\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-fe48e5de wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-3d td_btn_large\"><a class=\"wp-block-button__link has-vivid-red-background-color has-background wp-element-button\" href=\"https:\/\/dmdwarrior.com\/clinical-trials\/map\/\" target=\"_blank\" rel=\"noopener\">Duchenne Klinik Ara\u015ft\u0131rma Lokasyonlar\u0131 Haritam\u0131z\u0131 \u015eimdi Ke\u015ffedin<\/a><\/div>\n<\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 id=\"conclusion\" class=\"wp-block-heading\">Sonu\u00e7<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Ekzon delesyonunu anlamak, DMD'den etkilenen aileler i\u00e7in hayati \u00f6nem ta\u015f\u0131r. <strong>Her bir delesyonun kendine \u00f6zg\u00fc bir genetik anlam\u0131 vard\u0131r.<\/strong> Hangi ekzonlar\u0131n involved oldu\u011fu \u00f6nemlidir. Okuma \u00e7er\u00e7evesi distrofin \u00fcretimini etkileyebilir. Genetik test mutasyonu ortaya \u00e7\u0131kar\u0131r. Ekzon atlamas\u0131 baz\u0131 mutasyonlara yard\u0131mc\u0131 olabilir. <strong>Her silinme tedavi edilebilir de\u011fildir.<\/strong> Sonu\u00e7lar uzman yorumu gerektirir. <strong>Do\u011fru genetik bilgiler daha iyi kararlar al\u0131nmas\u0131n\u0131 destekler. Bilgi, ailelerin DMD bak\u0131m\u0131 konusunda yol g\u00f6stermesine yard\u0131mc\u0131 olabilir.<\/strong><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 id=\"academic-sources-references\" class=\"wp-block-heading\">Akademik Kaynaklar ve Referanslar<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Abbs, S., ve di\u011ferleri (2020). <em>EMQN&#039;nin distrofinopatilerde genetik test i\u00e7in en iyi uygulama k\u0131lavuzlar\u0131.<\/em> <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7608854\/\" target=\"_blank\" rel=\"noreferrer noopener\">Avrupa \u0130nsan Geneti\u011fi Dergisi, 28, 1147\u20131162.<\/a><\/li>\n\n\n\n<li>Darras, BT, Urion, DK ve Ghosh, PS Distrofinopatiler. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1119\/\" target=\"_blank\" rel=\"noreferrer noopener\">GeneReviews\u00ae, NCBI Kitapl\u0131\u011f\u0131<\/a>.<\/li>\n\n\n\n<li>Aartsma-Rus, A., &amp; den Dunnen, JT (2019). Ekzon silinmeleri\/\u00e7o\u011faltmalar\u0131 i\u00e7in fenotip tahminleri: Becker ve Duchenne kas distrofisini \u00f6rnek olarak kullanan profesyoneller ve klinisyenler i\u00e7in bir kullan\u0131c\u0131 k\u0131lavuzu. <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23850\" target=\"_blank\" rel=\"noreferrer noopener\">\u0130nsan Mutasyonu, 40(9), 1381\u20131391<\/a>.<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>What is exon deletion, and why does it matter in Duchenne muscular dystrophy? An exon deletion occurs when one or more sections of a gene are missing, potentially affecting how the body produces an essential protein. In DMD, these deletions occur in the DMD gene, which contains the instructions for producing dystrophin. Understanding the exact [&hellip;]<\/p>\n","protected":false},"author":11,"featured_media":3013,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[884,885,883,175,886,881,882],"class_list":["post-3004","post","type-post","status-publish","format-standard","has-post-thumbnail","category-dmd","tag-dmd-genetics","tag-dmd-mutation","tag-duchenne-genetics","tag-exon-deletions","tag-genetic-mutations","tag-in-frame-deletion","tag-out-of-frame-deletion"],"subtitle":"Ekzon delesyonu nedir ve Duchenne kas distrofisinde neden \u00f6nemlidir? Eksik bir ekzon, DMD geninin distrofin \u00fcretimini de\u011fi\u015ftirebilir ve tan\u0131, hastal\u0131k ilerlemesi ve tedavi se\u00e7eneklerini etkileyebilir.","_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/3004","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/users\/11"}],"replies":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/comments?post=3004"}],"version-history":[{"count":0,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/3004\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media\/3013"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media?parent=3004"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/categories?post=3004"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/tags?post=3004"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}