RESUMEN
Genetic analysis was carried out in 37 Albanian patients with haemophilia A. The factor VIII intron 22 inversion was detected only in 2/19 (10.5%) apparently unrelated patients with severe haemophilia A, while the intron 1 inversion was absent. A total of 19 different gene mutations were identified. Ten mutations were novel: four null mutations in severe haemophilia A patients (Gln1090X, Cys1832X, 2374delT, 5676insT) and six missense mutations (five in severe haemophilia A) (Ile76Thr, Leu299Pro, Asp525Glu, Cys692Tyr, His1755Leu and Trp1835Cys). None of these novel mutations occurred at CpG hotspots. These results further emphasize the extreme heterogeneity of the molecular basis of haemophilia A. The low prevalence of intron 22 inversion in Albanian patients with severe haemophilia A should be addressed by further studies.
Asunto(s)
Análisis Mutacional de ADN/métodos , Factor VIII/genética , Hemofilia A/genética , Mutación , Albania , Femenino , Humanos , MasculinoRESUMEN
Three historical ethnic minorities are present in Calabria: Albanians, Greeks, and Occitans. The Albanian ethnic minority is the more populous, having settled in Calabria between the 15th and 17th centuries, and these populations are now located in the provinces of Cosenza and Catanzaro. In the present study the Albanian population structure is analyzed based on the allele frequencies of six classic genetic markers: ACP, GC, PGM1, AK, ADA, and 6PGD. The results show a significant heterogeneity between the Albanian population in Calabria and the population in Molise. Therefore the cultural and reproductive isolation of the Albanian ethnic minority of Calabria is related to a great genetic peculiarity. Moreover, the frequencies of some alleles, particularly those of the PGM*1W31 variant, and the analysis of the R matrix still show the actual peculiar genetic structure of the Albanians of Calabria, although the genetic flow is evident in the decrease of endogamy and in the increase in the degree of mixing.
Asunto(s)
Etnicidad/genética , Frecuencia de los Genes , Genética de Población/estadística & datos numéricos , Adolescente , Albania/etnología , Niño , Femenino , Marcadores Genéticos , Humanos , Italia , Masculino , Fenotipo , Polimorfismo GenéticoRESUMEN
Cilofungin was combined with amphotericin B or flucytosine to determine if synergistic inhibition or killing occurred against 50 strains of various Candida species. Synergistic inhibition of growth occurred only once with amphotericin B and cilofungin and only 2 times with flucytosine and cilofungin. Synergistic killing occurred in 5 strains with the amphotericin B-cilofungin combination and in 7 strains with the flucytosine-cilofungin combination. Antagonism occurred frequently with both the amphotericin B-cilofungin and the flucytosine-cilofungin combinations.
Asunto(s)
Anfotericina B/farmacología , Antifúngicos/farmacología , Candida/efectos de los fármacos , Flucitosina/farmacología , Péptidos Cíclicos , Interacciones Farmacológicas , Equinocandinas , Pruebas de Sensibilidad Microbiana , Péptidos/farmacologíaRESUMEN
Cilofungin was combined with amphotericin B or flucytosine to determine if synergistic inhibition or killing occurred against 50 strains of various Candida species. Synergistic inhibition of growth occurred only once with amphotericin B and cilofungin and only 2 times with flucytosine and cilofungin. Synergistic killing occurred in 5 strains with the amphotericin B-cilofungin combination and in 7 strains with the flucytosine-cilofungin combination. Antagonism occurred frequently with both the amphotericin B-cilofungin and the flucytosine-cilofungin combinations.