İnsan genomlarında gözlenen karmaşık yapısal yeniden düzenlenme kalıpları

Yıl 2021, Cilt: 4 Sayı: 2, 33 - 47, 31.08.2021

Tunç Tuncel , Ayhan Demir

Öz

Genom tarama teknolojilerinin ve ileri biyoinformatik yaklaşımların gelişmesi ve genomların daha yüksek çözünürlükte incelenmesi ile son yıllarda yeni ve kompleks kromozomal düzenlenme türleri tanımlanmıştır. Kromoanagenez terimi adı altında toplanan, oluşum mekanizmalarına ve yapısal özelliklerine göre Kromotripsis, Kromoanasentez ve Kromopleksi gibi alt kategoriler altında incelenen bu tip kompleks yapılar, kanser genomlarında ve bazı konjenital hastalıklarda rapor edilmektedirler. Her bir alt kategorinin birbirinden ayrılabilmesi için belirli özellikler belirlenmiş olmasına rağmen bu kromozomal yeniden düzenlenme fenomenlerinin altyapıları henüz net olarak anlaşılamamıştır. Kromoanagenez doğasının ve hastalıklarla ilişkisinin daha iyi anlaşılabilmesi için yeni biyoinformatik algoritmaların özellikle veri görselleştirme araçlarının geliştirilmesine, şu ana kadar elde edilen bulguların bütünsel olarak analiz edilmesine ve ilgili deneysel modellerin geliştirilmesine ihtiyaç bulunmaktadır. Böylece, bu yapısal fenomenlerin hastalık gelişimlerindeki etkileri, tanı, tedavi ve evrelemedeki potansiyelleri keşfedilebilir.

Anahtar Kelimeler

Genom, Kromoanagenez, Kromoanasentez, Kromopleksi, Kromotripsis.

Kaynakça

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