Accurate interpretation of genetic variants remains a major challenge in rare disease diagnosis. Although ACMG/AMP guidelines have improved classification, implementation is hindered by genetic heterogeneity and the need to integrate data from multiple sources. We developed Genomize-SEQ, a web-based clinical genomics analysis platform that combines secondary variant calling, automated annotation and prioritization, visualization of annotations alongside raw data, and streamlined reporting. The platform aggregates information from over 120 data sources to classify variants according to ACMG/AMP guidelines and prioritize those most likely to explain the patient’s phenotype. Genomize-SEQ also performs real-time frequency aggregation within individual centers and across the community, facilitating interpretation in regions lacking genome projects or in underrepresented populations. To validate classification performance, we systematically compared ACMG/AMP pathogenicity predictions from Genomize-SEQ with widely used algorithms using ClinGen’s expert-curated dataset as a benchmark. This analysis revealed a pronounced tendency toward over-pathogenicity classification in commonly used tools, a bias not observed in Genomize-SEQ. Furthermore, variant prioritization efficiency was assessed on whole-exome sequencing data from 215 patients with pre-diagnostic and phenotypic information. Genomize-SEQ correctly identified causative variants in 97

BACKGROUND/AIM:Non-functioning pituitary adenoma (NFPA) is the most common pituitary tumor. Due to the lack of hormone hypersecretion, it is often diagnosed when the tumor enlarges and gives compression symptoms. Surgical resection is the primary treatment modality; however, complete remission rates remain suboptimal. In this study, we aimed to investigate differentially expressed genes (DEGs) that may be involved in NFPA pathogenesis. MATERIALS AND METHODS:We used gene expression microarrays to identify DEGs between 45 NFPA samples and 8 normal controls. We performed enrichment analysis to discover signaling pathways associated with NFPA and construct protein-protein interaction (PPI) networks to find out key genes related to the disease. RESULTS:We identified 270 up-regulated and 2,428 down-regulated DEGs in NFPA samples compared to normal controls. The cytokine-cytokine receptor interaction was the most significant pathway with notable up-regulation of PRLR, TNFRSF21 and LEPR genes. CCND1, POU5F1, SOX2, HNF1A, BRCA1 and FOXA1 were key nodes in PPI networks. CONCLUSION:CCND1, POU5F1, SOX2, HNF1A, BRCA1, and FOXA1 were identified as key molecules that may serve as potential biomarkers for diagnosis and targeted therapy of NFPA.

BACKGROUND/AIM:This study aimed to characterize gut microbiota alterations and intestinal barrier markers in patients with functional abdominal bloating (FAB) to explore its underlying biological mechanisms. MATERIALS AND METHODS:Stool samples from 42 adults diagnosed with FAB per Rome IV criteria were analyzed using the intergenic spacer profiling, which profiles the 16S-23S ribosomal DNA intergenic spacer region to enhance species-level resolution. Targeted real-time polymerase chain reaction quantified key bacterial taxa. Microbial diversity, Firmicutes/Bacteroidetes (F/B) ratio, enterotype distribution, and levels of beneficial and pathogenic bacteria were assessed. Gastrointestinal immune and permeability markers (calprotectin, secretory IgA, zonulin, α1-antitrypsin, bile acids, pancreatic elastase) were measured by enzyme-linked immunosorbent assay. RESULTS:A dysbiosis index ≥15 was observed in 90.5% of patients, indicating significant microbial imbalance. Most showed a low mean F/B ratio (<1.5) and microbial diversity index (<5), reflecting reduced microbiota resilience. Enterotype 1 (Bacteroides-dominant) was predominant (67%), with no detection of Enterotype 3 (Ruminococcus-dominant). Levels of beneficial bacteria, including Faecalibacterium prausnitzii, Akkermansia muciniphila, Bacteroides spp., and Bifidobacterium spp., were markedly decreased in over 80% of individuals. Conversely, Proteobacteria such as Sutterella wadsworthensis and Klebsiella spp. were at elevated levels. Calprotectin and sIgA were increased in >59.5% of cases; zonulin and α1-antitrypsin were elevated in 19% and 16.7%, respectively, suggesting mucosal immune activation and possible barrier dysfunction. CONCLUSION:This study demonstrates that FAB is accompanied by profound alterations in gut microbiota composition and mucosal immune responses, indicating that its pathophysiology extends beyond functional disturbances to include measurable biological changes. These findings support the growing clinical relevance of microbiota-informed evaluation and open new avenues for targeted therapeutic strategies.

BACKGROUND:Developmental and Epileptic Encephalopathy (DEE) is a severe and heterogeneous neurological disorder in infancy/early childhood. DEE's genetic and phenotypic variability complicates diagnosis and treatment. This retrospective study aimed to identify genetic variants and explore genotype-phenotype correlations in children with DEE using a targeted epilepsy gene panel (TGP) and Whole Exome Sequencing (WES). PATIENTS AND METHODS:Medical records of children who underwent custom-designed 55-gene TGP and WES were reviewed. The diagnostic yield of each method was determined based on the detection of pathogenic (P) and likely pathogenic (LP) variants. RESULTS:A total of 129 patients (66 males, 63 females) underwent TGP, which identified P/LP variants in 29 cases (22.48%). Variants were detected in SCN1A, KCNQ2, STXBP1, CDKL5, PCDH19, PLCB1, WWOX, SCN2A, FGF12, HCN1, SCN8A, and SLC35A2. WES further identified several variants in children with West syndrome. A TSC1 variant was detected in a patient without cutaneous stigmata of tuberous sclerosis complex. The NALCN variant in a patient was linked to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1. A CTBP1 variant associated with extremely rare Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome was detected in another patient. A PIEZO2 variant-associated with Marden-Walker syndrome-was found in a child with Early Infantile Developmental and Epileptic Encephalopathy. CONCLUSIONS:These findings highlight the extensive genetic heterogeneity and phenotypic variability of DEE. WES demonstrates substantial value in identifying novel gene-disease associations and may be considered as a first-tier diagnostic tool in epilepsy and DEE.

Objective: Understanding the relationship between genetic structure and the molecular changes involved in endometrial cancer (EC) provides an opportunity to personalize treatments and incorporate targeted therapies.Method: We compared cytogenetic and molecular features observed in tumoral and adjacent healthy tissue endometrium samples in EC patients.Results: Non-clonal chromosome aberrations (NCCAs) frequently in patients with EC, especially in 10,15,17,22, X chromosomes and were monitored in 73.7%, clonal chromosomal alterations were observed in 26.3% of the patients.Down POLE gene expression in 42.1%, up p53gene expression in 57.9%, PTEN down-regulation in 47.3%, down ARID1A gene expression in 42.1%, PIK3CA up-regulation was observed in 68% of patients.Conclusion: The up-regulation of tumor suppressor genes in our study shows that not only these genes are involved but also different pathways and factors play a role in tumorigenesis.Furthermore, an increased number of NCCAs shows an essential role in the development of ECs.

BACKGROUND/AIM:Periodontitis is a prevalent multifactorial, oral infectious disease and is considered a high-risk factor for pancreatic cancer. Nevertheless, there is limited understanding of the underlying epigenetic mechanisms governing this relationship. The aim of this study was to identify dysregulated miRNAs associated with periodontitis and pancreatic cancer, along with their related genes, signaling pathways, and compounds. MATERIALS AND METHODS:miRNA expression datasets for tissues affected by periodontitis and pancreatic cancer were obtained from the Gene Expression Omnibus database. miRNAs differentially expressed relative to normal tissues were detected, and those common to both datasets were determined. Further bioinformatics approaches were used to explore the association of common differentially expressed miRNAs with periodontitis and pancreatic cancer. RESULTS:Twenty shared, differentially expressed miRNAs were identified; 14 exhibited similar expression patterns in both diseases. Among these common differentially expressed miRNAs, 10 were found to be overexpressed. hsa-miR-155, hsa-miR-186, hsa-miR-765, hsa-miR-211 and hsa-miR-375 were the top miRNA nodes in the gene network, with hsa-mir-155 being the sole miRNA node in the transcription factor network. Top candidate miRNA-dysregulated genes included superoxide dismutase 2 (SOD2), nuclear FMR1 interacting protein 2 (NUFIP2), SFT2 domain-containing 2 (SFT2D2), thioredoxin-interacting protein (TXNIP), and cyclin D1 (CCND1), while top dysregulated transcription factors were Argonaute RISC catalytic component 2 (AGO2), AKT serine/threonine kinase 1 (AKT1), BCL6 transcription repressor (BCL6), breakpoint cluster region (BCR), and BRCA1 DNA repair associated (BRCA1). Relevant compounds for targeting these emerged, including 5-fluorouracil, gemcitabine, doxorubicin, ascorbate, diethylstilbestrol, and temozolomide. CONCLUSION:Our study suggests candidate molecular mechanisms linking periodontitis to pancreatic cancer, highlighting potential compounds that may target both diseases. These findings provide a foundation for guiding future fundamental and clinical research.

Background/Objectives: To evaluate the association between endometrial tissue stiffness, as measured by shear wave elastography (SWE), and the presence of specific gene mutations in patients diagnosed with endometrial cancer. Methods: Peripheral blood samples were collected for DNA extraction and next-generation sequencing (NGS) to identify gene mutations. Preoperative SWE was performed to measure endometrial stiffness, with values expressed in kilopascals (kPa). Statistical analyses were conducted to assess the correlation between SWE measurements and genetic findings. Results: Genetic mutations were detected in 66% (n = 31) of cases, with TTN, PLEC, and PRSS1 being the most frequently mutated genes. The median SWE measurement was 36.5 kPa (range: 19.1–70.4 kPa). No statistically significant correlation was found between SWE values and the presence of gene mutations (p > 0.05). Cases with metastasis exhibited higher median SWE values (40.1 kPa) compared to non-metastatic cases (34.7 kPa), though this difference was not statistically significant. Conclusions: While no significant association was observed between endometrial stiffness and specific gene mutations, higher SWE values in metastatic cases suggest that increased tissue stiffness may be linked to tumor aggressiveness. Further large-scale studies are warranted to validate these findings and explore the potential of SWE as a non-invasive tool in assessing endometrial cancer characteristics.

Objective:Understanding the relationship between genetic structure and the molecular changes involved in endometrial cancer (EC) provides an opportunity to personalize treatments and incorporate targeted therapies. Method:We compared cytogenetic and molecular features observed in tumoral and adjacent healthy tissue endometrium samples in EC patients. Results:Non-clonal chromosome aberrations (NCCAs) frequently in patients with EC, especially in 10,15,17,22, X chromosomes and were monitored in 73.7%, clonal chromosomal alterations were observed in 26.3% of the patients. Down POLE gene expression in 42.1%, up p53gene expression in 57.9%, PTEN down-regulation in 47.3%, down ARID1A gene expression in 42.1%, PIK3CA up-regulation was observed in 68% of patients. Conclusion:The up-regulation of tumor suppressor genes in our study shows that not only these genes are involved but also different pathways and factors play a role in tumorigenesis. Furthermore, an increased number of NCCAs shows an essential role in the development of ECs.

Purpose : Fetal karyotyping is commonly used to detect chromosomal abnormalities in high -risk pregnancies. Our study is intended to evaluate the results of fetal karyotyping performed in our laboratory for six years and to determine the frequency of chromosomal abnormalities, thus revealing their clinical significance. Materials and Methods: The cytogenetic results of 661 prenatal samples with an indication for invasive prenatal procedures (amniocentesis, cordocentesis) who had a chromosome analysis and FISH testing between February 2013 and March 2019 were analyzed in our study. Results: A total of 72 (10.8%) abnormal fetal karyotypes were observed in the study group. Trisomy 21 was the most common numerical aberration (29%, n = 23), followed by trisomy 18 (16%, n = 13), trisomy 13 (2.6%, n = 2), triploid (2.6%, n = 2), sex chromosome aneuploidies (5.2%, n = 4), and rare mosaic autosomal aneuploidies (2.6%, n = 2). Inversions (16%, n = 13), inherited translocations (7.8%, n = 6), unbalanced/de novo translocations (6.5%, n = 5), deletions (5.2%, n = 4), additional chromosomes (1.3%, n = 1), isochromosomes (1.3%, n = 1), and derivative chromosomes (1.3%, n = 1) were identified as structural abnormalities. Of the 18 cases that underwent FISH testing, trisomy 18 was detected in 1 case and tetrasomy 12p was detected in 1 case. Conclusion: Fetal karyotyping is still an effective and valuable method in the diagnosis of fetal anomalies and provision of effective genetic counseling. In addition, fetal karyotyping should be supported by complementary methods and advanced technologies for accurate and rapid prenatal genetic diagnosis.

Amaç: Kromozomal anomaliler, tekrarlayan düşüklerin en önemli risk faktörleri arasındadır. Vakaların %5.5'inde, ebeveynlerden birinin sitogenetik anormalliği mevcuttur ki bu oran genel nüfusa göre %0.55'tir. Son literatür verileri, düşüklere neden olan sebeplerin tespiti için a‐CGH yöntemini kullanmış olsa da, kromozomal yeniden düzenlemenin ve tekrarlayan düşüklerin korelasyonunu değerlendirmek için özel olarak yapılan az sayıda çalışma bulunmaktadır; ancak bu konuda net bir kanıt bulunmamaktadır. Bu çalışmada, a-CGH yöntemi kullanılarak açıklanamayan tekrarlayan düşükleri olan çiftlerde kromozomal yeniden düzenlenmenin korelasyonunu amaçladık. Yöntem: Beşten fazla düşüğü olan 74 hastanın karyotipleme ve a-CGH verileri retrospektif olarak analiz edildi. Hücre kültürleri, karyotipleme için standartlaşmış prosedürler takiben 400-550 bant düzeyinde hücre hasadı ve G-bantlama işlemleri gerçekleştirildi. Anne veya baba DNA'sının ekstrakte edilen miktarı ve kalitesi sırasıyla spektrofotometre ve jel elektroforezi ile ölçüldü. Bulgular: Toplam 74 hasta arasında, çalışmaya 50 kadın ve 24 erkek dahil edildi. A-CGH sonuçları, erkeklerin 22'sinde (%91.7) ve kadınların 46'sında (%92) normal olarak bulundu ve normal hastaların, duplikasyon ve delesyon anormallikleri (Duplikasyon: 4q12, 2(p15-p14), 17q12; Delesyon: 1(q21.1-q21.2), 16p11.2, Xp22.31) olan hastalarla karşılaştırıldığında dağılımı anlamlı değildi (P > 0.05). Sonuç: Anne ve baba adaylarının kromozmlarının aCGH ile araştırılması sonucunda düşük oranda delesyon ve dublikasyon anormallikleri izlenmiştir. Hastalara gerekli danışmanlığın verilebilmesi için bu anormalliklerin klinik önemi araştırılmalıdır.

Objective: Intellectual disability (ID) is a complex, variable, and clinically heterogeneous neurodevelopmental disorder that affects 1% - 3% of the global population. Copy number variations (CNVs) contribute to approximately 15%-20% of ID cases. Array comparative genomic hybridization (aCGH) is the first-line test for diagnosing patients with ID with/without multiple congenital anomalies (MCAs). This study aimed to present CNVs identified in a retrospective aCGH cohort of Turkish patients with ID with/without other medical conditions. Materials and Methods: The study population consisted of 210 patients (139 male, 71 female) aged 2-18 years. aCGH analysis was performed using oligo and bacterial artificial chromosome (BAC)-based microarray platforms. CNVs were interpreted using public databases and literature mining and categorized according to international guidelines. Results: Forty-five CNVs were detected in 38 (18%) patients. Among these CNVs, 21 (46.6%) were pathogenic, 4 (8.8%) were likely pathogenic, and 8 (17.7%) were variants of uncertain clinical significance (VUS). Nineteen CNVs corresponded to rare microdeletion/ microduplication syndromes. Conclusions: This study reports rare CNVs or syndromes among Turkish patients with ID with/without other medical conditions. Data revealed an overall diagnostic rate of 11.43%, which confirms aCGH as the first-line technology allowing geneticists to diagnose complex phenotypes, identify candidate genes involved in ID, and explore novel CNV effects.

Background and Aims: MMP-2 and TIMP-1 are vital molecules in the remodeling of the extracellular matrix, and they have a critical role in the metastatic process of breast cancer. This study aimed to detect expression levels of MMP-2 and TIMP-1 genes by Quantitative Real-Time Polymerase Chain Reaction (qRT-PCR) and identify their potential roles in breast cancer prognosis. Methods: MMP-2 and TIMP-1 gene expression levels in 17 breast cancer tumor tissues and normal breast tissue were examined. The expression levels of MMP-2 and TIMP-1 were analyzed by qRT-PCR. The association between the expression levels of MMP-2 and TIMP-1 and clinicopathological manifestations of breast cancer was examined. Results: Lower gene expression levels of MMP-2 and TIMP-1 were detected in tumors compared to the controls. A statistical correlation was not observed between the expression level of MMP-2, TIMP-1, and clinicopathological parameters (tumor Conclusion: Our findings have been suggesting that expression profiles of MMP-2 and TIMP-1 might be independent prognostic and predictive biomarkers for breast cancer. These biomarkers are candidate molecules for personalized therapy. MMP-2 and TIMP-1 expression patterns will also aid in the identification of more precise and targeted subgroups of breast cancer.

INTRODUCTION:Breast cancer is the most prevalent malignancy in women worldwide. Although pathogenic variants in the BRCA1/2 genes are responsible for the majority of hereditary breast cancer cases, a substantial proportion of patients are negative for pathogenic variations in these genes. In cancers, the signal transduction pathways of the cell are usually affected first. Therefore, this study aimed to detect and classified genetic variations in non-BRCA signaling genes and investigate the underlying genetic causes of susceptibility to breast cancer.METHODS:Ninety-six patients without pathogenic variants in the BRCA1/2 genes who met the inclusion criteria were enrolled in the study, and 34 genes were analyzed using next-generation sequencing (NGS) for genetic analysis.RESULTS:Based on the ClinVar database or American College of Medical Genetics criteria, a total of 55 variants of 16 genes were detected in 43 (44.8%) of the 96 patients included in the study. The pathogenic variants were found in the TP53, CHEK2, and RET genes, whereas the likely pathogenic variants were found in the FGFR1, FGFR3, EGFR, and NOTCH1 genes.CONCLUSION:The examination of signaling genes in patients who met the established criteria for hereditary breast cancer but were negative for BRCA1/2 pathogenic variants provided additional information for approximately 8% of the families. The results of the present study suggest that NGS is a powerful tool for investigating the underlying genetic causes of occurrence and progression of breast cancer.

Amaç: RAS genleri, Epidermal Büyüme Faktörü Reseptörü (EGFR) tarafından indüklenen RAS-MAPK Sinyal yolağının bir üyesidir. Bu yolaktaki genlerde meydana gelen mutasyonlar kanser gelişimini tetiklemektedir. Kolorektal kanserde (KRK), RAS genlerinde meydana gelen mutasyonlar EGFR hedefli tedaviye karşı direnç gelişimine neden olur. EGFR monoklonal antikorları, kemoterapötik ajanlar olarak metastatik kolorektal kanser tedavisinde yaygın şekilde kullanılmaktadır. KRAS mutasyonları KRK’nın 30-50%’sinde, NRAS mutasyonları ise 2-3%’ünde bulunur. Bu çalışmada, KRK’lı hastalarda KRAS/NRAS mutasyonlarını analiz etmeyi amaçladık. Yöntem: EGFR-hedefli tedaviye direnç gösteren 100 metastatik KRK hastası, Real-Time Polimeraz Zincir Reaksiyonu yöntemi ile KRAS mutasyonu (ekzon 2, 3, 4) ve NRAS mutasyonu (ekzon 2, 3, 4) durumu için tarandı. Bulgular: Bu çalışma sonucunda, KRAS mutasyonu oranı 48% ve NRAS mutasyonu oranı 1,92% olarak bulundu. En yaygın KRAS mutasyonları kodon 12’de saptandı. Kodon 12 mutasyonlarının dağılımı G12V (25%), G12D (23%), G12C (14,5%) olarak elde edildi. Sonuç: Çalışmamızda saptanan KRAS ve NRAS mutasyon sıklıkları benzer raporlar ile uyumlu bulundu. Sonuçlarımız, RAS mutasyonlarının test edilmesinin EGFR-hedefli tedaviden fayda sağlayacak hastaları belirlemede hayati rolünü desteklemektedir.

BACKROUND:Identification of driver mutations and rapid detection of genetic changes in lung cancer are critical in the management of the disease. Genetic structures of tumor tissues tend to change constantly and the possibility of emergence of new pathogenic variants that will create resistance to treatment. Liquid biopsy analysis has been one of the most effective approaches used to monitor and identify individual genetic changes.METHODS:In this study, TP53, EGFR, MET, ALK, PIK3CA, MAP2K, ERBB2 and ROS genes in cf DNA samples of 324 patients with lung adenocarcinoma were screened for genetic variations by NGS method. Analysis of the data showed that there were a total of 755 variations in 324 patients.RESULTS:Pathogenic and possibly pathogenic variations were identified in 178 patients (54.9%) on TP53, 118 (36.4%) on EGFR, 55 (17.0%) on MET, 46 (14.2%) on ALK, 39 (12.0%) on MAP2K, 6 (1.9%) on ERBB2 and in 2 (0,6%) patients ROS genes. The detailed variant data of the genes included in the study were compared with the patients' stage status, metastasis status, smoking, age distribution and life span data, and the presence of possible significant relationships and candidate biomarkers for the molecular pathogenesis of the disease were investigated.CONCLUSION:As a result of data analysis, genetic changes associated with metastasis and adenocarcinoma formation were identified. It has been shown that variations identified in TP53, PIK3CA, MAP2K1 and EGFR genes can play critical roles in the pathogenesis and development of the disease.

Objective: RAS genes are members of the RAS/Mitogen activated protein kinase pathway which is induced by Epidermal Growth Factor Receptor (EGFR). Mutations in genes in this pathway trigger cancer development. In colorectal cancer, mutations in RAS genes cause resistance to EGRF- targeted therapy. In the treatment of metastatic colorectal cancer, EGFR’s monoclonal antibodies are widely used as chemotherapeutic agents. Kirsten-RAS mutations are found in 30-50% and N-RAS mutations are found in 2-3% of colorectal cancer. In this study, we aimed to analyze Kirsten-RAS /N-RAS mutations in patients with metastatic colorectal cancer. Methods: One hundred of metastatic colorectal cancer patients resistant to EGFR- targeted therapy were scanned for the Kirsten-RAS mutations status (exon 2,3,4) and N-RAS mutation status (Exon 2,3,4) by Real-Time PCR (Polymerase Chain Reaction) method. Results: As a result of this study, Kirsten-RAS mutation was found 48% and N-RAS mutation was 1.92%. The most common Kirsten-RAS mutations were in codon 12. The distribution of codon 12 mutations were obtained as G12V (25%), G12D (23%), G12C (14.5%). Conclusion: In our study, the frequencies of Kirsten-RAS and N-RAS mutations were compitable with similar reports. Our results have supported that testing RAS genes mutations have a vital role in identifying patients who benefit from Epidermal Growth Factor Receptor- targeted therapy.

Papillary thyroid cancer (PTC) is the most common type of thyroid malignancies. PTC has good prognosis, but it can dedifferentiate into aggressive forms. In this study, we aimed to identify differentially expressed genes (DEGs) between PTC samples and normal controls. We used gene expression microarrays to identify DEGs between 20 PTC samples and 10 normal controls. We performed enrichment analysis to discover biological processes and signalling pathways associated with PTC and construct protein-protein interaction (PPI) networks to find out key genes for the disease. We identified 1554 up-regulated and 912 down-regulated DEGs in PTC samples compared to normal controls. The coagulation system was the most significant pathway and SERPINA1 was the most up-regulated gene of this pathway. CCND1, PGR, CEBPA, CDKN1A, SPDEF, PLAU and MDM2 were key nodes in PPI networks. Causal network analysis revealed that SFN, which was one of the up-regulated DEGs found in our study, was the most causative upstream regulator for PTC. In conclusion, deregulation of SERPINA1, CCND1, PGR, CEBPA, CDKN1A, SPDEF, PLAU and MDM2 genes and coagulation system pathway may contribute to PTC development. SFN may be an important gene in diagnosis, prognosis and novel anticancer drug approaches for PTC. Further experiments are required to confirm the functions of identified DEGs in our study.

ÖZ GİRİŞ ve AMAÇ: Akut myeloid löseminin (AML) 1alpha,25dihydroxyvitamin D (3) (1,25(OH)2D3)'ün farklılaştırma etkisiyle tedavisi ön plana çıkan araştırma konularındandır.Bu çalışmanın amacı HL-60 hücrelerinde lösemi hücre döngüsü regülasyonu ve apopitozunda 1,25(OH)2D3'ün rolünü araştırmaktır. YÖNTEM ve GEREÇLER:Vitamin D ile indüklenmiş HL-60 hücrelerinde ücre döngüsü ve apoptoz ile ilişkili 13 genin (TNFR1, Bax, Bak, AIF, Survivin, Cdk1 (Cdc2), Cdk2, Cdk4, Siklin D1 ve Siklin E) dört farklı zamanda (18, 36, 48, 72.saatler) gen anlatımlarını gerçek zamanlı kantitatif PZR (polimeraz zincir reaksiyonu) yöntemini kullanarak analiz ettik