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Familial Mediterranean Fever (FMF) which is frequently present in Mediterranean populations is caused by mutations in the MEFV gene. According to recent data, MEFV mutations are not the only cause of FMF, but these are major genetic determinants which cause FMF. It has also been suggested that there may be a number of other genes causing FMF. The MEFV gene(More)
Reactive oxygen species (ROS) have been suggested to play an important role in physiopathology of schizophrenia. The major intracellular antioxidant enzymes, copper-zinc superoxide dismutase in the cytoplasm and manganese superoxide dismutase (Mn-SOD) in the mitochondria, rapidly and specifically reduce superoxide radicals to hydrogen peroxide.(More)
Activities of adenosine deaminase (AD), and xanthine oxidase (XO) enzymes were measured in bladder washing fluid (BWF) from 37 patients with bladder cancer. The patients were divided into several groups according to their sex; pattern, number, and depth of the tumors; and tumor grade. There was a statistically significant difference in XO activities between(More)
We report a 6-year-old boy diagnosed as transfusion dependent chronic nonspherocytic hemolytic anemia since 40 days old. Hemoglobin H inclusions were detected with brilliant cresyl blue preparation. His parents were found to be normal on physical examination. His mother had hemoglobin level of 9.34 g/dL, accompanied by typical thalassemic changes of the red(More)
To detect somatic cytogenetic abnormalities and AZF microdeletions in a sample of 187 Turkish infertile men to determine the frequencies and the characteristics of our primary male infertility data in order to perform appropriate genetic counseling. This study included 187 infertile men. Chromosomal studies and screening of AZF deletions was performed by(More)
BACKGROUND We aimed to investigate the possible association between Mn-SOD polymorphism in the mitochondrial targeting sequence and asthma. METHODS Alanine or valine polymorphism in the signal peptide of Mn-SOD gene was evaluated using a primer pair to amplify a 107-bp fragment followed by digestion with NgoM IV. RESULTS No significant difference in(More)
As the size and complexity of space launches continues to grow an architecture is becoming ever more necessary to accurately organize and determine workforce requirements for the involved organizations. The Launch Services Program at Kennedy Space Center has recently begun using a tool developed by the technology consulting firm Booz-Allen Hamilton(More)
Macrophage activation by interferon-gamma (IFN-gamma) 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-gamma gene and intronic (CA)n polymorphic microsatellite marker of the interferon-gamma receptor 1 (IFN-gammaR1) gene to TB susceptibility were investigated(More)
Griscelli syndrome (GS) is a rare autosomal recessive disorder associated with skin or hair hypopigmentation, hepatosplenomegaly, pancytopenia, and immunologic and central nervous system abnormalities. GS type II is caused by RAB27A mutations. We present RAB27A mutation analysis of 6 cases diagnosed as GS type II. Missense mutations (L26P and L130P) in 2(More)
A pyruvate kinase deficiency prevalence study and determination of the normal levels of the enzyme were performed in Antalya city, Turkey. Heparinized blood samples obtained from a representative population of the Antalya province (617 women and 573 men) were tested for pyruvate kinase deficiency by qualitative and quantitative tests between April 1992 and(More)