Recent studies have indicated that the interleukin‐12/interferon‐γ (IFN‐γ) axis is important in mycobacterial infection susceptibility. Using an intronic (CA)n polymorphic microsatellite marker within the IFN‐γ receptor‐1 (IFNGR1) gene, we have compared the allelic frequencies of this marker in hospitalized tuberculosis patients (n = 120) with that of controls (n = 87) from Rijeka, Croatia. We identified 13 (CA)n alleles in the tuberculosis patients, whereas only 10 were found in the controls. A significant difference between one allelic marker and the control group was observed (P = 0.02, 95% confidence interval 0.14–0.94), suggesting a possible protective association. In contrast, several other allelic markers showed a trend towards association with the disease. We also found a trend towards an increased frequency in homozygosity of one allelic marker in patients (11.7%) as compared with controls (4.6%). We conclude that there is no evidence for disease association of the IFNGR1 gene marker in Mendelian‐type (single‐allele) inheritance. However, our results also suggest that unidentified allelic variations in the IFNGR1 gene might elevate or decrease the risk in this ethnic population, as a part of the multigenic predisposition to tuberculosis.
Cisticna fibroza (CF) je autosomno recesivna bolest koja nastaje kao posljedica mutacije u samo jednom genu, genu CFTR (od engl. cystic fibrosis transmembrane conductance regulator gene). Produkt gena je protein CFTR koji djeluje kao prenosilac iona klora kroz membrane epitelnih stanica. Unutar gena CFTR do danas je opisano preko 1000 mutacija, od kojih su mnoge vrlo rijetke, a njihova raznolikost i razlicita zastupljenost unutar jedne populacije u mnogome otežavaju dijagnostiku cisticne fibroze. Najucestalija mutacija je delecija tri para baza u desetom eksonu, delta F508, s prosjecnom ucestaloscu od 67%. U genu CFTR opisan je i velik broj polimorfizama (preko 200) koje se primjenjuju u standardoj dijagnostici, pogotovo unutar obitelji s nepoznatom mutacijom. Do danas je objavljeno niz studija koje govore o važnosti primjene polimorfnih biljega u dijagnosticiranju i pracenju nasljeđivanja cisticne fibroze. Cilj ove studije bio je odrediti raspodjelu tri polimorfna, intragenska biljega, IVS 8 CA, IVS 1 CA i IVS 17b CA, unutar zdravih ispitanika i ispitanika koji imaju klinicku sliku cisticne fibroze. Kod oboljelih osoba pratili smo i pojavnost 15 najucestalijih mutacija (DF508, DI507, G542X, G551D, R553X, N1303k, 621+1G--T, W1281X, 3849+10kbC--T, 1717-1G--A, 2789+5G--A, 3849+4A--G, R1162X, 1898+1G--A i R117H). Usporedbom rezultata obje analize odredili smo povezanost pojedine mutacije i pripadajuceg haplotipa. Poznato je, naime, da su i pojedine mutacije znacajno cesce povezane s pojedinim polimorfnim biljezima. Za umnažanje ponavljajucih sljedova nukleotida koristili smo metodu lancane reakcije polimerazom, PCR, upotrebom ranije objavljenih pocetnica. Tocan broj ponavljajucih sljedova odredili smo elektroforezom u gelu poliakrilamida. U cilju određivanja raspodjele pojedinih haplotipova unutar zdravih i bolesnih ispitanika proveli smo statisticku analizu te odredili postoji li povezanost pojedine mutacije sa specificnim haplotipom. Za određivanje 15 najucestalijih mutacija također smo koristili metodu lancane reakcije polimerazom, uz upotrebu ranije objavljenih pocetnica, a analizu dobivenih odsjecaka provodili smo metodom RFLP, te analizom heterodupleksa. Rezultati ove studije pokazali su, dosad nepoznatu, raspodjelu polimorfnih biljega unutar gena CFTR u stanovnika Hrvatske. Služit ce kao smjernica u dijagnosticiranju cisticne fibroze metodama molekularne dijagnostike, narocituo unutar obitelji koje su opterecene cisticnom fibrozom, a gdje nisu pronađene mutacije gena.
Pine Lake sits within a 900+ acre property owned by Hartwick College in West Davenport, NY. The property is an environmental center where biological and geochemical research is ongoing. Pine Lake itself is a 12 acre kettle hole lake created during the Woodfordian stage of the Wisconsonian glaciation. Bedrock is not exposed locally, but is buried beneath till. Preliminary geochemical analyses of the lake water suggest that the lake has a significant capacity to buffer the detrimental effects of acid precipitation (Adams, 1992). Water percolating through the glacial till on which the lake is situated is thought to play a major part in the introduction of buffering agents. The authors collected four refraction profiles adjacent to the lake to determine depth to bedrock and extent of glacial till. This will provide constraints for hydrologic models. Data was collected from two pairs of refraction lines. Two lines were placed on the north side of the lake and two on the east side. On each side of the lake, lines were oriented perpendicular to each other to constrain the dip of underlying bedrock. Data represent high resolution reversed refraction profiles and will allow the authors to constrain thickness of till and underlyingmore » bedrock geometry. Data was downloaded to a workstation, bandpass filtered from 5--280 Hz., scaled using a single window gain, and statically corrected. They see refracted arrivals from two interfaces. The upper interface is located at approximately 13 feet with a velocity of roughly 5,000 ft/sec and the lower interface at approximately 88 feet with a velocity of 12,000 ft/sec. These interfaces are essentially flat-lying and are most likely part of the Upper Devonian Unadilla Formation. The glacial till that blankets the area ranges in thickness from 13 feet to 71 feet.« less
In the first part of the paper authors discuss some of the classical sociological ideas about the neighborhood, developed within the Chicago School and the symbolic interactionism of Jane Jacobs. Those ideas are then used in order to examine the neighborhood relations in Novi Sad, in the context of transition and spatial transformation. Authors present selected results of a survey conducted in 2015. on a representative sample of 503 citizens of Novi Sad. The neighborhood relations in Novi Sad are investigated with the aim of analyzing their quality in different parts of the city and their relation with different social characteristics. According to the research hypothesis, the quality of neighborhood relations varies significantly in different parts of the city and between different social groups, whereby the parts of the city are classified by the degree of their spatial transformation in transition. The research confirmed the first hypothesis and found that the neighborhood relations are more intense in the old, historic part of the city, within the single-family and mixed housing, among the owners of apartments as well as those born in Novi Sad or had moved to the city less than 10 years ago. Although some findings suggest that differences in neighborhood relations are arising from the degree and quality of spatial reconstruction in the transition, these links are not simple nor direct. Through the analysis of the research results authors assess the relevance of some classical sociological ideas for understanding and planning the neighborhoods in the contemporary city in transition. In conclusion, authors emphasize the importance of overcoming strict spatial determinism as well as the idealization of neighborhood relations in further research in this area.
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