Chromosome rearrangements are found in many acute leukemias. As a result, genes at the breakpoints can be disrupted, forming fusion genes. One of the genes involved in several chromosome aberrations in hematological malignancies is NUP98 (11p15). As NUP98 is close to the 11p telomere, small translocations might easily be missed. Using a NUP98-specific split-signal fluorescence in situ hybridization (FISH) probe combination, we analyzed 84 patients with acute myeloid leukemia (AML), acute lymphoblastic leukemia, or myelodysplastic syndrome with either normal karyotypes or 11p abnormalities to investigate whether there are unidentified 11p15 rearrangements. Neither NUP98 translocations nor deletions were identified in cases with normal karyotypes, indicating these aberrations may be very rare in this group. However, NUP98 deletions were observed in four cases with unbalanced 11p aberrations, indicating that the breakpoint is centromeric of NUP98. Rearrangements of NUP98 were identified in two patients, both showing 11p abnormalities in the diagnostic karyotype: a t(4;11)(q1?3;p15) with expression of the NUP98-RAP1GDS1 fusion product detected in a 60-year-old woman with AML-M0, and an add(11)(p15) with a der(21)t(11;21)(p15;p13) observed cytogenetically in a 1-year-old boy with AML-M7. JARID1A was identified as the fusion partner of NUP98 using 3' RACE, RT-PCR, and FISH. JARID1A, at 12p13, codes for retinoblastoma binding protein 2, a protein implicated in transcriptional regulation. This is the first report of JARID1A as a partner gene in leukemia.
In this study, it was aimed to examine the interrater reliability of the scoring of paragraph writing skills on foreign languages with the measurement invariance tests. The study group consists of 267 students studying English at the Preparatory School at Gazi University. In the study, where students write a paragraph on the same topic, the paragraphs are rated separately by three different interrater using the same scoring key. The evidence for the validity measurements was collected with AFA and DFA while the evidence for the reliability measurements was collected by the Cronbach-alpha (α) coefficient. As a result of testing with Multi-Group Confirmatory Factor Analysis within the context of the measurement invariance of the interrater reliability, no evidence of full and partial scalar invariance can be obtained while evidence of formal configural and metric invariance is obtained. As a result, the lack of evidence of scalar invariance means that raters scoring the writing skills do not use the same initial level of performance. In this case, the invariant uniqueness and invariant factor variances could not be tested, and therefore no evidence of reliability between raters could be obtained.
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