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Ataxia-telangiectasia (AT) is a complex disorder characterized by progressive neurodegeneration, immunodeficiency, hypersensitivity to DNA damaging agents and cancer predisposition. Clinical heterogeneity is observed even among the affected siblings with AT. Mutations of the ataxia-telangiectasia mutated (ATM) gene are responsible for AT. H2AX, an essential histone protein, is phosphorylated by ATM in response to double-strand breaks, and H2AX-deficient mice share some clinical and laboratory findings with AT. Therefore, we sought a possible modifier effect of H2AX gene on various clinical features in a group of patients with AT and healthy controls. We performed sequence analysis of H2AX gene in 81 patients with AT, and in 51 of them, we analysed methylation. We examined H2AX gene expression in 25 patients. We investigated 48 healthy individuals as a control group. We did not detect any mutation or sequence variation in the H2AX gene, or any altered methylation pattern in any of the patients. Although H2AX gene expression was markedly increased (2.5- to 11.8-fold) in five of 25 patients, and slightly increased (1.5- to 2.4-fold) in four patients, the correlations between H2AX gene expression and the evaluated clinical features of the patients were not significant. Other potential modifier genes that might be scrutinized in AT patients include p53, 53BP1 and TIP60, as well as the genes that effect mitochondrial function and the oxidative response. [ABSTRACT FROM AUTHOR]

Left-lateral strike slip along the Dead Sea Fault Zone (DSFZ) between the African and Arabian plates is partitioned into a complex set of motions at its northern extension where Arabia impinges into the Anatolian collage. As a result, the nature of the contemporary link between the east Anatolian and Dead Sea transforms is unclear. To quantify strike slip motion expressed as tectonic rotations along the inferred southwest continuation of the East Anatolian Fault Zone (EAFZ), we have investigated the paleomagnetism of young (<1 Ma) volcanics in the Adana Basin-Gulf of İskenderun region comprising the Ceyhan-Osmaniye volcanic suite. This volcanism is sited close to the intersection between the sinistral Karataş-Osmaniye Fault Zone (KOFZ) and the Neotethyian Suture. Nine sites from a basaltic lava field in the vicinity of Osmaniye are entirely of normal polarity and, in the context of their very young morphologies, are assigned to the Brunhes Chron; declinations are mostly clockwise from the present field. This age assignment identifies rapid Recent (<780 ka) uplift at the head of the Gulf of İskenderun and is linked to a diversion of the Ceyhan river drainage and ongoing regional tilting. Eight sites yield a mean declination of 11.3 ± 10°, implying clockwise block rotation on Riedel-type fractures on the northwest side of the KOFZ. Seven lavas sites from a volcanic succession near Botaş at the southwestern extension of the volcanic lineament are of reversed polarity and rotated counterclockwise by 43 ± 7° with respect to the present field. Polarity, K-Ar, and morphological evidence indicate an assignment toward the latter part of the Matuyama Chron and identify rapid Neogene block rotation of a flake within the KOFZ. An inferred maximum slip rate of 0.6 cm/year on this fault zone is comparable with lower estimates of slip on the EAFZ and suggests that most strike slip on the DSFZ is now being partitioned to the west of the Gulf of İskenderun on a developing strike slip zone linking with the Cyprus Arc. [ABSTRACT FROM AUTHOR]

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.