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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Supported in part by a Grant-in-Aid for a Comprehensive 10-year Strategy for Cancer Control from the Ministry of Health and Welfare; a Grant-in-Aid for Creative Basic Research (Human Genome Program) from the Ministry of Education, Science, and Culture; and a grant of Special Co-ordination Funds for Promotion of Science and Technology from the Science and Technology Agency of Japan.

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