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- W2586680672 abstract "Proc Amer Assoc Cancer Res, Volume 46, 2005138 The AML1/RUNX gene on human chromosome 21q22 is often disrupted by translocations in leukemia of which more than ten have been cloned. Recently, we cloned a translocation breakpoint involving the AML1 gene and the PRDX4 gene on Xp22 in a leukemia patient with a t(X;21). PRDX4 is a member of the peroxiredoxin gene family which is involved in antioxidation. To determine whether the PRDX4 gene was involved in other translocations in patients with leukemia, we screened cells from 15 patients with leukemia and Xp22 abnormalities using the FISH (Fluorescence in situ hybridization) technique and a labeled BAC (Bacterial Artificial Chromosome) clone covering the PRDX4 gene. A split FISH signal was detected in one of the patients implicating PRDX4 involvement. This patient who had a Pro B cell ALL showed a t(X;18)(p22;q23) translocation on cytogenetic analysis as well as other cytogenetic abnormalities. A 22Mb area on chromosome 18 was investigated with 30 BAC clones to localize the translocation breakpoint and to define the partner gene on chromosome 18. The potential breakpoint could be narrowed to a 50 kilobase region between the genes SOCS6 and CBLN2. Two BAC clones (RP11-139B13, RP11-432G11) were found that showed a split signal on both the derivative chromosomes 18 and X and thus appeared to span the translocation breakpoint. Using two color FISH with the BAC for PRDX4 and one BAC on chromosome 18 that split, we saw a fusion signal on the X chromosome; the PRDX4 BAC translocated to an as yet unidentified small chromosome not chromosome 18, indicating a complex rearrangement. Some ESTs (Expressed Sequence Tags) but no known genes are located in the breakpoint region on chromosome 18. Molecular studies are in progress to clone the genomic breakpoint and to confirm the fusion gene. PRDX4 is the only gene implicated in antioxidation that has been involved in leukemia-associated translocations. This is the second example of its involvement in a translocation. We conclude that antioxidant enzymes might play a heretofore unrecognized role in leukemogenesis." @default.
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- W2586680672 date "2005-05-01" @default.
- W2586680672 modified "2023-09-25" @default.
- W2586680672 title "Cytogenetic and molecular study of the PRDX4 gene in a t(X; 18)(p22; q23) translocation." @default.
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