Consistent disruption of the AML1 gene occurs within a single intron in the t(8;21) chromosomal translocation - PubMed (original) (raw)
. 1992 Dec 15;52(24):6945-8.
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- PMID: 1458484
Consistent disruption of the AML1 gene occurs within a single intron in the t(8;21) chromosomal translocation
K Shimizu et al. Cancer Res. 1992.
Abstract
The AML1 gene on chromosome 21 was rearranged by the t(8;21) chromosomal translocation in acute myeloid leukemia (AML). Southern blot analysis of 21 AML patients with t(8;21), including three with complex translocations, t(8;V;21), demonstrated that all the breakpoints occurred at random within a single intron between two coding exons of AML1. Clustering of the breakpoints in the restricted intron suggests the formation of a unique fusion gene between the AML1 gene and a presumable counterpart gene on chromosome 8. Nucleotide sequencing of the breakpoint region revealed that the translocation event was accompanied by deletion of a short stretch of nucleotides.
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