Renal cell carcinoma (RCC) is the most common malignancy of the kidney. Since RCC is curable when it is confined to the renal capsule, early diagnosis is extremely important. Promoter hypermethylation is the most common mechanism for the inactivation of the tumor suppressor genes (TSG) in the development of human cancer. This study aimed to investigate the methylation profiles of 7 TSG (RASSF1A, ECAD, TIMP3, APC, MGMT, p16 and RARβ2) in 3 different tissue samples (normal, premalign, malign) of patients with RCC. Twenty-one patients diagnosed with RCC were included in the study. Methylation-specific polymerase chain reaction was performed to detect the methylation patterns of the 7 TSG. High methylation rates for the genes RASSF1A (76%), p16 (80%), ECAD (42%), TIMP3 (33%) and MGMT (33%) were observed in the patients with RCC. The APC (14%) and RARβ2 (19%) genes showed low methylation rates. In conclusion, 5 TSG (RASSF1A, ECAD, TIMP3, MGMT and p16) showed high methylation rates in RCC patients. A methylation-based gene test including these genes may be useful in the early detection of RCC.

Background/Aims: Quantitative fluorescent polymerase chain reaction (QF-PCR) is a successful prenatal diagnostic method which has been regularly used for the diagnosis of common chromosomal abnormalities in recent years. This method provides diagnosis of common aneuploidies in a few hours after sampling with a high throughput, very low error rates and low cost. Methods: In this study, 576 amniotic fluid samples were analyzed for trisomies 13, 18, and 21 and sex chromosome aneuploidies using different commercial QF-PCR kits (ChromoQuant™ version 1, Aneufast™, ChromoQuant™ version 2). Test results were compared with those obtained by conventional cytogenetic analyses. Results: Nine cases of trisomy 21 (1.6%), 1 case of trisomy 13 (0.17%), 3 cases of trisomy 18 (0.52%), 1 case of Turner syndrome (0.17%), 2 cases of Klinefelter’s syndrome (0.34%), 2 cases of triploidy (0.34%) and 1 case of XXX (0.17%) were detected by QF-PCR. The results obtained by QF-PCR were consistent with the results of cytogenetic studies (except for 2 samples which had structural chromosomal abnormalities which could not be detected by QF-PCR). Conclusion: The QF-PCR method is an appropriate choice for rapid aneuploidy testing in our as well as in other populations.

Macrophage activation by interferon-γ (IFN-γ) is important in host resistance to tuberculosis (TB). In this study, the relationships of the +874 T/A polymorphism in the first intron of the IFN-γ gene and intronic (CA)n polymorphic microsatellite marker of the interferon-γ receptor 1 (IFN-γR1) gene to TB susceptibility were investigated in children. Forty children with TB and 67 age-matched controls were included. There were no significant differences between the allele frequencies and genotype frequencies of patient and control groups for the polymorphism +874 T/A in the IFN-γ gene. Differences that were not statistically significant were found between the group of children with TB and the control group for the allelic markers (170 and 180) in the IFN-γR1 gene. The incidence of the allele 170 was higher in patients (30.9%) than in controls (17.4%), whereas the allele 180 was found to be more common in controls (9% vs 1.2%). In conclusion, no significant association was observed between the +874 T/A polymorphism found in the first exon of the IFN-γ gene and TB susceptibility in Turkish children.

β-Thalassemia (β-thal) is the most common monogenic disorder in Turkey. The aim of this study was to investigate the spectrum of β-thal mutations in the Aegean region of Turkey. The data was derived from 1171 unrelated β-thal subjects, detected in a regional reference hospital between November 2004 and December 2013. Screening for the 22 common mutations was performed using the polymerase chain reaction (PCR)-reverse dot-blot method, and direct automated DNA sequencing for the unknown samples. Thirty-one different β-thal alleles were identified. Seven mutations, namely IVS-I-110 (G > A) (41.7%), IVS-I-1 (G > A) (8.9%), IVS-II-745 (C > G) (8.6%), codon 8 (–AA) (7.7%), IVS-II-1 (G > A) (7.2%), IVS-I-6 (T > C) (6.6%), codon 39 (C > T) (4.6%) accounted for 85.3% of the mutated alleles. Frequencies of the remaining 24 β-thal mutations were less than 2.2%; these included one novel mutation [HBB: c.206_212del (p.Leu69Profs*19)], and four others [–56 (G > C), codon 16 (–C), IVS-I (–3) (C > T) (codon 29), codon 76 (–C)] found in Turkey for the first time. The results will help to prevent severe β-thal through genetic counseling and prenatal diagnosis (PND) in the Aegean region of Turkey.