Kromozom ve Genom Mutasyonları

Yazarlar

Veysel Bay
https://orcid.org/0000-0002-9339-4840
Berrin Özdil
https://orcid.org/0000-0001-6081-2308

Özet

Bu bölüm, kromozom ve genom düzeyinde meydana gelen sayısal ve yapısal değişikliklerin oluşum mekanizmalarını, biyolojik sonuçlarını ve tespit yöntemlerini ele almaktadır. Anöploidi kapsamında monozomi ve trizomi; poliploidi kapsamında ise otopoliploidi ve allopoliploidi açıklanarak kromozom sayısındaki değişikliklerin gen dozajı, gelişim, üreme ve fenotip üzerindeki etkileri tartışılmaktadır. Kromozomal yeniden düzenlemeler; delesyon, duplikasyon, inversiyon ve translokasyon başlıkları altında, insan hastalıkları ile bitki ve hayvan genetiğinden örnekler kullanılarak incelenmektedir. Ayrıca karyotipleme, floresan in situ hibridizasyon, array-CGH ve yeni nesil dizileme gibi sitogenetik ve moleküler yöntemlerin kromozomal ve genomik anomalilerin belirlenmesindeki kullanım alanları özetlenmektedir. Son bölümde CRISPR-Cas tabanlı genom düzenleme yaklaşımları ile yapay zekâ ve makine öğrenmesinin genomik veri analizi ve kopya sayısı varyasyonlarının yorumlanmasındaki potansiyeli değerlendirilmektedir.

 

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Sayfalar

329-342

Yayınlanan

5 Ekim 2026

Lisans

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