Emre ÖZGÜR, Anıl YILDIZ, Süleyman BADEMLER, Uğur GEZER

Kan Plazmasında Satellit-2 Tekrar Elementi DNA Dizilerinin Karakterizasyonu

Amaç: Son yıllarda tıp biliminin farklı disiplinlerinde sıkça karşılaşılan kavramlardan biri olan “sıvı biyopsi”, hastaların tanı, prognoz analizi ve tedaviye cevabını değerlendirme gibi konularda girişimsel doku biyopsisi yerine, kan ve çeşitli vücut sıvılarındaki moleküler ve epigenetik biyobelirteçlerin kullanılmasını içerir. Dolaşımda serbest halde dolaşan DNA’da (‘cell-free DNA’, cfDNA) kanser hücrelerine özgü gen mutasyonlarının saptanması, kanser hücrelerinin içeriğinin vücut sıvılarına geçtiğinin kesin kanıtı olarak kabul edilmektedir. cfDNA’nın bileşiminin belirlenmesine yönelik dizileme çalışmaları, perisentrik satellit DNA dizilerinin, cfDNA’da genom oranlarına kıyasla daha fazla oranda temsil edildiğini bildirmiştir. Bu çalışmada, kanser açısından spesifik dizilerin saptanması amacıyla, Sat-2 dizilerinin polimeraz zincir reaksiyonunda (PCR) çoğaltılmaları sonrasında daha detaylı karakterizasyonu amaçlanmıştır.

Anahtar Kelimeler:

Kanser, Sat-2, Likit biyopsi, Cancer, liquid biopsy

Characterization of Satellite-2 Repeat Element DNA Sequences in Blood Plasma

Aim: 'Liquid biopsy', which is one of the concepts frequently encountered in different disciplines of medical science in recent years, involves the use of molecular and epigenetic biomarkers in blood and various body fluids instead of interventional tissue biopsy in subjects such as diagnosis, prognosis analysis and evaluation of response to treatment. Detection of gene mutations specific to cancer cells in DNA ('cell-free DNA', cfDNA) circulating freely is accepted as definitive proof that the contents of cancer cells pass into body fluids. Sequencing studies to determine the composition of cfDNA have reported that pericentric satellite DNA sequences are overrepresented in cfDNA compared to genome ratios. In this study, aimed to further characterize Sat-2 sequences after amplification in a polymerase chain reaction (PCR) in order to detect cancer-specific sequences.

Keywords:

Cancer, liquid biopsy, Sat-2,

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