AbstractÖz Purpose: Colorectal cancer is the most frequent cause of death and had high mortality rate in Western world. It is from complex, variable and patient-specific interaction between genetic, epigenetic and environmental factors. In the present study, we aimed to investigate the contribution of gene expression of the P53 and Adipoq, both genes to the risk of colorectal cancer. P53 gene is a tumor suppressor gene, encoded protein of P53 is a transcription factor and its pivotal role in maintaining genomic stability. Adipoq gene codes adiponectin. Material and Methods: Total RNA were extracted from paired tumor and normal tissues of 32 colorectal cancer patients. The mRNA expression level of P53 and Adipoq were measured employing semi-quantitative reverse transcription-polymerase chain reaction (RT-PCR). Results:The mRNA expression level of P53 in colorectal cancer was significantly increased according to normal samples (over-expressed). However, the mRNA expression level of Adipoq in colorectal cancer was significantly reduced according to normal samples (downregulated). Conclusion: In current study, our data suggest those reduced mRNA expression of the Adipoq and increased mRNA expression of P53 might be useful molecular diagnostic markers for colorectal cancer patients. In order to understand the investigation between colorectal cancer and diagnostic biomarker; further analysis is necessary.Amaç: Kolorektal kanser Batı dünyasında çok sık karşılaşılan ve ölüm oranı yüksek bir hastalıktır. Genetik, epigenetik ve çevresel faktörler arasında, hasta spesifik bir interaksiyon vardır, dolayısı ile çok çeşitli ve komplekstir. Bu çalışmada P53 ve Adipoq genlerinin ekspresyon seviyelerinin, kolorektal kanser riski üzerine etkisini incelemeyi amaçladık. P53 geni tümör süpressör bir gen olup, bir transkripsiyon faktörü olan P53 proteinini kodlar, genomik stabilitenin devamlılığında çok önemlidir. Adipoq geni adiponektini kodlar. Gereç ve Yönetim: Otuz iki kolorektal kanserli hastanın, tümör ve normal dokusundan RNA izolasyonu yapıldı. P53 ve Adipoq mRNA ekspresyon seviyeleri semiquantitative reverse transkripsiyon-polimeraz zincir reaksiyonu (RT-PCR) yöntemi ile belirlendi. Bulgular: Kolorektal kanserde, P53 ekspresyon seviyesinin normal dokuya göre önemli oranda artış gösterdiği tesbit edilmiştir (aşırı ekspresyon). Fakat, Adipoq ekspresyon seviyesinin, kolorektal kanserinde normal dokuya oranla önemli derecede azaldığı belirlenmiştir (azalmış ekspresyon). Sonuç: Yaptığımız bu çalışmada elde ettiğimiz veriler, Adipoq gen ekspresyonu seviyesinin azaldığı, P53 geni ekspresyon seviyesinin ise artış gösterdiğine dair olup, bu genlerin kolorektal kanserli hastalarda teşhis markırı olarak kullanılabileceğini önermektedir. Kolorektal kanser ve teşhis biyomarkırları arasındaki ilişkiyi anlamak için, daha fazla çalışma yapılması gerekir.

AbstractÖz Purpose: Renal cell carcinoma (RCC) is genetically characterized by the recurrent loss of the short arm of chromosome 3. Classically, Von Hippel Lindau (VHL) was the only frequently mutated gene in RCC. Recently, several novel frequent mutations of histone modifying and chromatin remodeling genes, including PBRM1 and SETD2, were identified. In the present study, we aimed to determine the possible relationship between PBRM1 and SETD2 genes, and renal cell carcinoma by molecular techniques. Material and Methods: Screening possible mutation and determining mRNA expression level of PBRM1 and SETD2 genes in 20 pairs of tumor and normal samples of RCC patients were performed by nucleotide sequencer and reverse transcription-polymerase chain reaction (RT-PCR). Results: The mRNA expression levels of both genes were significantly reduced in tumor samples when compared with the control samples. As a result of mutational analysis, a single insertion nucleotide polymorphism in exon 12 of SETD2 gene was detected in one patient. Conclusion: Reduced mRNA expression level of PBRM1 and SETD2 might be risk factor for RCC development. Further analysis is warranted to investigate responsible genes rather than PBRM1 and SETD2 in RCC. Amaç:Renal hücreli karsinoma (RCC) 3. kromozomun kısa kolundaki tekrar kayıpları ile karakterizedir. Klasik olarak Von Hippel Lindau sendromunda sadece RCC gen mutasyonu sıklıkla görülmekteydi. Son zamanlarda PBRM1 ve SETD2 yi içeren histon modifikasyon ve kromatin remodeling genlerinde de mutasyonlar yoğunlukla tanımlanmıştır. Bu çalışmada moleküler teknikler ile PBRM1 ve SETD2 genleri ile RCC arasındaki muhtemel ilişkiyi belirlenmesi amaçlanmıştır. Gereç ve Yöntem: RCC hastalarından alınan normal ve tümöral dokuda PBRM1 ve SETD2 genlerinin mRNA ekspresyon seviyeleri ve olası mutasyonları nükleotid sekanslama ve Reverse transkripsiyon polimeraz zincir reaksiyonu (RT-PCR) ile belirlendi. Bulgular: Kontrol ile kıyaslandığında her iki gen için de mRNA ekspresyon değerleri tümöral dokuda anlamlı derecede azalmıştır. Mutasyon analiz sonuçlarına göre 1 hastanın SETD2 geninin 12 nolu exonunda tek insersiyon nükleotid polimorfizmi saptandı. Sonuç: PBRM1 ve SETD2 mRNA ekspresyon seviyelerinin azalması RCC gelişmesi için risk faktörü olabilir. Gelecekte RCC de SETD2 ve PBRM1 in dışında farklı genlerinde araştırılması gerekmektedir.

Chronic myeloid leukemia is a rare form of cancer that affects blood cells and is characterized by a genetic mutation between chromosome (9) and chromosome ( 22) known by reciprocal t(9;22) (q34;q11) translocation, Which leads to composition of the chimerical fusion gene (BCR-ABL1) on chromosome (22), which is known after that by (Philadelphia chromosome). More than (90%) of chronic myeloid leukemia patients are diagnosed with presence of Philadelphia chromosome. The present study was carried out on (40) patients who were suffering from Chronic Myeloid Leukemia in Erbil city and (10) healthy individuals as a control group in both sex and different age groups. Blood samples were collected and chromosomal study was performed. The research concluded the effect of several factors, including that most cases were between the age group (41-50) and among males more than females. Also the percentage of illness in relation to the type of occupation was among most females who were housewives at (42%). As for the patients' living location, between inside and outside the city, the result was somewhat close to each other even when taking into consideration the proportion of males and females. As for the occurrence of types of chromosomal aberrations, the study showed that the highest value of chromosomal aberrations was in (Dicentric chromosome), specifically in females of the age group (41-50).