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Objectives: The purpose of this study was to determine the differences in the distribution of TNF-α (-308) gene polymorphism among aggressive periodontitis, chronic periodontitis and periodontally healthy individuals and also to investigate whether this polymorphism is associated with gingival crevicular fluid TNF-α levels and periodontal disease severity., Material and Methods: A total of 93 individuals were enrolled in the study including 38 aggressive periodontitis, 29 chronic periodontitis patients, and 26 healthy controls. Single nucleotide polymorphism at TNF-α (-308) is analyzed by PCR-RFLP method. Gingival crevicular fluid samples were analyzed for TNF-α, using ELISA., Results: The distribution of genotypes and allele frequencies for TNF-α (-308) were similar among the groups. After stratification of patients with respect to attachment level, aggressive periodontitis patients with clinical attachment level ⩾4mm was observed to have a higher frequency of TNF-α (-308) allele 2 compared to the chronic periodontitis patients with clinical attachment level ⩾4mm. No significant differences were found between the TNF-α levels of the different genotypes in spite of an insignificant increase in patient groups carrying TNF-α (-308) allele 2., Conclusion: The results of this study revealed an association between TNF-α (-308) allele 2 frequency and aggressive periodontitis patients with clinical attachment level ⩾4mm in the population studied., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

Tumor necrosis factor alpha (TNF-alpha) is a principal cytokine that may induce weight loss. TNF-alpha -308 G to A polymorphism increases transcription of TNF-alpha in vitro. The aim of this study was to investigate whether TNF-alpha gene promoter polymorphism at position -308 (G to A substitution) is one of the factors playing a role in the development of anorexia nervosa (AN). Sixteen patients with AN, aged 11-20 years, were included in this study, and 5/16 (31%) patients had TNF-alpha -308 G/A genotype. In the control group, 12/174 (7%) had -308 G/A genotype. There was a significant statistical difference between the patient and control groups (p=0.007). The minimum body mass index (BMI) values ever recorded for each patient during the course of the disease were significantly higher in the five patients with TNF-alpha -308 G to A polymorphism (p= 0.003). TNF-alpha gene promoter polymorphism at position -308 might be associated with a predisposition to AN and initiate the disease. The protective mechanisms that affect clinical manifestation of the disease may be related with other anti-inflammatory cytokines or immunologic mechanisms.

X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the skipping of exon 9 in a 2.5-year-old boy with this disorder.

Objectives: Several studies have suggested that genetic susceptibility to rheumatic fever (RF) may be linked to HLA Class II alleles. The purpose of this study was to examine the association between HLA Class II genes and RF in Turkish children., Methods: DNA typing HLA Class II genes (DRB1, DQA1, DQB1) were performed in 55 children with RF and 50 healthy unrelated controls using sequence specific primers (SSP)., Results: The frequency of the HLA DQA1*03 (OR: 0.462, p < 0.05) allele was significantly decreased in the patient group. Also, the frequency of the combination of DRB1*04 and DQA1*03 allele (OR: 0.42, p < 0.01) was more significantly decreased in the patient group. Differences in frequencies of the DRB1 and DQB1 alleles between groups were not significant., Conclusions: Our data indicate that the HLA DQA1*03 allele may be a protecting factor in Turkish children with RF. Our results also suggest that the combination of the DRB1*04 and DQA1*03 alleles may be a stronger protective factor than the DQA1*03 allele alone.

The factor V Leiden mutation in 12-children with thrombosis and in 20 controls was investigated. Five heterozygous individuals and 1 homozygous individual among the cases with thrombosis and 1 heterozygous individual among controls were found. Central nervous system thromboses were increased in children with the factor V mutation, associated with protein S deficiency.