Consistent disruption of the AML1 gene occurs within a single intron in the t (8;21) chromosomal translocation
Shimizu, K.; Miyoshi, H.; Kozu, T.; Nagata, J.; Enomoto, K.; Maseki, N.; Kaneko, Y.; Ohki, M.
Cancer Research 52(24): 6945-6948
1992
ISSN/ISBN: 0008-5472 PMID: 1458484 Document Number: 392619
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.