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Updated: Aug 7, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints
C A Felix1, M R Hosler, D J Slater
1Division of Oncology, The Children's Hospital of Philadelphia, Pennsylvania 19104-4318, USA. felix@email.chop.edu
Background:
AF-4 is a common partner gene of MLL. AF-4 breakpoints occur in introns, but most AF-4 introns are uncharacterized.
Methods And Results:
We cloned AF-4 intron 4 and examined the frequency of breakpoints in this intron. The 5.8-kb intron is rich in repeat sequences and was the site of translocation in 3 of 17 leukemias with t(4;11). We cloned the der (11) and der (4) breakpoints and isolated the fusion transcripts in the cell line MV4-11 and in a de novo acute lymphoblastic leukemia (ALL). Both translocations joined MLL intron 6 and AF-4 intron 4. In MV4-11, 249 bases from AF-4 were present in both derivative chromosomes, indicating duplication. In the de novo ALL, duplication of 446 bases from MLL and AF-4 occurred. Reciprocal fusion transcripts were expressed.
Conclusions:
Intronic sequence of AF-4 is useful for molecular diagnosis of t(4;11). Duplicated intronic regions suggest staggered chromosomal breakage.
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